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
ALKBH4	54784	broad.mit.edu	37	7	102098318	102098318	+	Silent	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:102098318C>G	ENST00000292566.3	-	3	471	c.432G>C	c.(430-432)ggG>ggC	p.G144G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	144						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AGCCCTCCAGCCCCGGGTAGA	0.667000													9	50					0	0	0.004482	0	0
OR8H1	219469	broad.mit.edu	37	11	56057964	56057964	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr11:56057964T>C	ENST00000313022.2	-	1	602	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCAATGTCGTATGTGTCCAT	0.443000													14	71					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577498C>T	ENST00000420246.2	-	7	915		c.e7+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(29)|p.0?(8)|p.E258fs*71(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)		TGGCTCCTGACCTGGAGTCTT	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)			10	30					0	0	0.008291	0	0
CCDC28A	25901	broad.mit.edu	37	6	139101113	139101113	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:139101113C>A	ENST00000332797.6	+	3	738	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	195										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGGAAAACTTCAAGCATTTGG	0.393000													11	62					2.27111e-07	2.60936e-07	0.013537	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857175	9857175	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:9857175G>A	ENST00000396573.2	-	14	4535	c.4226C>T	c.(4225-4227)gCa>gTa	p.A1409V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1409V|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1409V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACAGTACGATGCCGTTGACCT	0.502000													19	41					0	0	0.007413	0	0
CCDC18	343099	broad.mit.edu	37	1	93691976	93691976	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:93691976T>G	ENST00000343253.7	+	17	2761	c.2259T>G	c.(2257-2259)ttT>ttG	p.F753L	CCDC18_ENST00000401026.3_Missense_Mutation_p.F754L|CCDC18_ENST00000338949.4_Missense_Mutation_p.F509L|CCDC18_ENST00000334652.5_Missense_Mutation_p.F49L|CCDC18_ENST00000557479.1_Missense_Mutation_p.F872L|CCDC18_ENST00000421014.2_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	753										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGGAAAAGTTTGAAAAACAGT	0.294000													5	51					0	0	0.001984	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164982	85164982	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:85164982T>C	ENST00000448803.2	+	3	1848	c.1556T>C	c.(1555-1557)gTg>gCg	p.V519A	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.V519A|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.V518A|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.V369A	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	519					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CAGCTCGTAGTGCACCAGCGG	0.592000													30	147					0	0	0.010818	0	0
FAM149A	25854	broad.mit.edu	37	4	187088346	187088346	+	Silent	SNP	G	G	T	rs150961217		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:187088346G>T	ENST00000356371.5	+	13	2178	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	FAM149A_ENST00000227065.4_Silent_p.T435T|FAM149A_ENST00000514153.1_Silent_p.T435T|FAM149A_ENST00000502970.1_Silent_p.T435T|FAM149A_ENST00000389354.5_Silent_p.T435T|FAM149A_ENST00000503432.1_Silent_p.T435T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	726										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGTCGGATACGCCTCGAAAAA	0.368000													21	110					7.41877e-09	8.70899e-09	0.012319	1	0
COX15	1355	broad.mit.edu	37	10	101474430	101474430	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:101474430G>C	ENST00000016171.5	-	9	1197	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	COX15_ENST00000497381.1_5'UTR|CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	383					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GTGGCGGCCAGAGGAGTTGGG	0.507000													12	84					0	0	0.002450	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827639	130827639	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:130827639G>A	ENST00000245255.3	+	3	455	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	61					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAACAGCCAAGTCACAAGGTG	0.438000													9	14					0	0	0.004482	0	0
PPFIA3	8541	broad.mit.edu	37	19	49631304	49631304	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:49631304G>A	ENST00000334186.4	+	2	523	c.174G>A	c.(172-174)ctG>ctA	p.L58L	PPFIA3_ENST00000602351.1_Silent_p.L58L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	58						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCGCAGCTGCGGCTGCGCG	0.726000													10	13					0	0	0.010729	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728189	20728189	+	Missense_Mutation	SNP	T	T	G	rs57947174	by1000genomes	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:20728189T>G	ENST00000427401.4	-	4	914	c.820A>C	c.(820-822)Aca>Cca	p.T274P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	274					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATCTTATGTGTAGTAAGGTTA	0.398000													4	19					0	0	0.009096	0	0
CUL1	8454	broad.mit.edu	37	7	148483659	148483659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:148483659G>A	ENST00000325222.4	+	12	1594	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	CUL1_ENST00000409469.1_Missense_Mutation_p.E439K|CUL1_ENST00000602748.1_Missense_Mutation_p.E439K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCAGAGGAGGCAGAACT	0.378000													17	36					0	0	0.007413	0	0
CUX2	23316	broad.mit.edu	37	12	111758444	111758444	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:111758444G>A	ENST00000261726.6	+	17	2785	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	877						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCCTGAAGCCCACCGTGC	0.701000													4	12					0	0	0.009096	0	0
FCRLA	84824	broad.mit.edu	37	1	161681071	161681071	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:161681071G>C	ENST00000540926.1	+	4	617	c.324G>C	c.(322-324)tgG>tgC	p.W108C	FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.W119C|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.W108C|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.W125C|FCRLA_ENST00000349527.4_Missense_Mutation_p.W102C|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	102	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCCAGGCCTGGCAAGACTGGC	0.577000													6	49					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616610	77616610	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:77616610T>G	ENST00000521891.2	+	2	735	c.287T>G	c.(286-288)aTg>aGg	p.M96R	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M96R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M96R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M96R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGAAATACATGGAACACCAC	0.502000										HNSCC(33;0.089)			66	125					0	0	0.014410	0	0
ROCK1	6093	broad.mit.edu	37	18	18625307	18625307	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr18:18625307G>T	ENST00000399799.1	-	5	1476	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	179	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TACTTCTGCAGTATAGAATCG	0.373000													10	47					6.42651e-13	7.79846e-13	0.010729	1	0
KIF6	221458	broad.mit.edu	37	6	39387750	39387750	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:39387750C>G	ENST00000287152.7	-	15	1878	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	KIF6_ENST00000541946.1_Missense_Mutation_p.S46T|KIF6_ENST00000373213.4_Missense_Mutation_p.S434T|KIF6_ENST00000538893.1_Missense_Mutation_p.S539T|KIF6_ENST00000373215.3_Missense_Mutation_p.S595T|KIF6_ENST00000229913.5_Missense_Mutation_p.S46T|KIF6_ENST00000394362.1_Missense_Mutation_p.S46T|KIF6_ENST00000373216.3_Missense_Mutation_p.S595T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	595					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCATTTATACTTTCTCCCAG	0.358000													11	89					0	0	0.008291	0	0
C14orf79	122616	broad.mit.edu	37	14	105457937	105457937	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:105457937G>A	ENST00000547315.1	+	3	1318	c.679G>A	c.(679-681)Gga>Aga	p.G227R	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000549240.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	227								p.G227*(1)		breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTTGTTCTCGGAATAGATGC	0.562000													42	70					0	0	0.011902	0	0
ARL11	115761	broad.mit.edu	37	13	50204602	50204602	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:50204602A>G	ENST00000282026.1	+	2	354	c.19A>G	c.(19-21)Aga>Gga	p.R7G	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	7					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGTGAATTCCAGAGGTCACAA	0.572000													13	106					0	0	0.002450	0	0
LIN54	132660	broad.mit.edu	37	4	83891502	83891502	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:83891502G>A	ENST00000340417.3	-	4	1306	c.929C>T	c.(928-930)tCa>tTa	p.S310L	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.S310L|LIN54_ENST00000510557.1_Missense_Mutation_p.S89L|LIN54_ENST00000446851.2_Missense_Mutation_p.S89L|LIN54_ENST00000442461.2_Missense_Mutation_p.S89L	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	310					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTTCAAAGGTGAGATGGCTAT	0.333000													16	97					0	0	0.004990	0	0
EFHC1	114327	broad.mit.edu	37	6	52303383	52303383	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:52303383C>T	ENST00000371068.5	+	3	670	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EFHC1_ENST00000433625.2_Silent_p.F98F|EFHC1_ENST00000538167.1_Silent_p.F170F	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	189	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGACCAATTCACACAGGTAT	0.383000													8	86					0	0	0.006214	0	0
ABCA6	23460	broad.mit.edu	37	17	67092867	67092867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:67092867C>T	ENST00000284425.2	-	24	3370	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1066					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAAGCTGACGTCCACTAGT	0.353000													6	19					0	0	0.001984	0	0
SPAG6	9576	broad.mit.edu	37	10	22690177	22690177	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:22690177C>G	ENST00000376603.2	+	9	1655	c.1513C>G	c.(1513-1515)Ctg>Gtg	p.L505V	SPAG6_ENST00000376601.1_Missense_Mutation_p.L190V|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Missense_Mutation_p.L429V|SPAG6_ENST00000376624.3_Missense_Mutation_p.L429V|SPAG6_ENST00000538630.1_Missense_Mutation_p.L404V|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	429					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TCCCAATATTCTGAAACATGT	0.348000													8	26					0	0	0.004482	0	0
CNGB1	1258	broad.mit.edu	37	16	57994804	57994804	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:57994804C>T	ENST00000564448.1	-	8	534	c.474G>A	c.(472-474)ctG>ctA	p.L158L	CNGB1_ENST00000251102.8_Silent_p.L158L|CNGB1_ENST00000311183.4_Silent_p.L158L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	158					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACAGAAGCAGCCGCAGCC	0.622000													3	22					0	0	0.000602	0	0
ZNF292	23036	broad.mit.edu	37	6	87968682	87968682	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:87968682G>T	ENST00000369577.3	+	8	5378	c.5335G>T	c.(5335-5337)Ggt>Tgt	p.G1779C	ZNF292_ENST00000339907.4_Missense_Mutation_p.G1774C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGATCTCAGGGTGCTGGTGA	0.323000													5	22					0.000602214	0.000656961	0.000602	1	0
NFKB1	4790	broad.mit.edu	37	4	103527776	103527776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:103527776G>A	ENST00000226574.4	+	17	2343	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	NFKB1_ENST00000505458.1_Missense_Mutation_p.E625K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E625K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E445K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	625	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AGCTGCCAAAGAAGGACATGA	0.502000													11	72					0	0	0.008291	0	0
ZNF80	7634	broad.mit.edu	37	3	113955725	113955725	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:113955725C>T	ENST00000482457.2	-	1	700	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	66						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCTGATGTCGAACAAGGAG	0.488000													4	30					0	0	0.009096	0	0
BTNL2	56244	broad.mit.edu	37	6	32363864	32363864	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32363864C>G	ENST00000454136.3	-	5	1034	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	BTNL2_ENST00000544175.1_Missense_Mutation_p.E67Q|BTNL2_ENST00000374993.1_Missense_Mutation_p.E344Q|BTNL2_ENST00000414363.1_Missense_Mutation_p.E134Q|BTNL2_ENST00000374995.3_Missense_Mutation_p.E250Q|BTNL2_ENST00000540315.1_Missense_Mutation_p.E134Q|BTNL2_ENST00000429232.2_Missense_Mutation_p.E251Q			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	344	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCATCTTTTTCAAAAAGGCAG	0.483000													7	79					0	0	0.006214	0	0
RGS12	6002	broad.mit.edu	37	4	3432594	3432594	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:3432594G>A	ENST00000336727.3	+	17	4930	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	RGS12_ENST00000382788.3_Silent_p.L1342L|RGS12_ENST00000344733.5_Silent_p.L1342L|RGS12_ENST00000338806.4_Silent_p.L694L|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1342						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTGACCCTGATGGGGGAGG	0.672000													7	56					0	0	0.003080	0	0
SVEP1	79987	broad.mit.edu	37	9	113148250	113148250	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:113148250G>A	ENST00000401783.2	-	43	10501	c.10165C>T	c.(10165-10167)Ctg>Ttg	p.L3389L	SVEP1_ENST00000374469.1_Silent_p.L3366L|SVEP1_ENST00000297826.5_Silent_p.L1315L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3389	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCAGCAGAAAACCTTCC	0.493000													4	50					0	0	0.000602	0	0
DPEP3	64180	broad.mit.edu	37	16	68011733	68011733	+	Splice_Site	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:68011733C>G	ENST00000268793.4	-	6	1205		c.e6-1			NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3						meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTACTACTTTCTGCAGAAACA	0.498000													3	24					0	0	0.004672	0	0
RAD17	5884	broad.mit.edu	37	5	68680680	68680680	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:68680680C>T	ENST00000509734.1	+	7	1276	c.598C>T	c.(598-600)Cta>Tta	p.L200L	RAD17_ENST00000361732.2_Silent_p.L189L|RAD17_ENST00000358030.2_Silent_p.L24L|RAD17_ENST00000354868.5_Silent_p.L189L|RAD17_ENST00000305138.4_Silent_p.L189L|RAD17_ENST00000282891.6_Silent_p.L103L|RAD17_ENST00000521422.1_Silent_p.L24L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Silent_p.L189L|RAD17_ENST00000345306.6_Silent_p.L189L|RAD17_ENST00000380774.3_Silent_p.L200L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	200					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CAAAGAGTTTCTACTAAGAGC	0.323000								Other conserved DNA damage response genes					10	43					0	0	0.008291	0	0
LSS	4047	broad.mit.edu	37	21	47635094	47635094	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47635094C>T	ENST00000397728.3	-	9	1089	c.1011_splice	c.e9+1	p.P337_splice	LSS_ENST00000522411.1_Splice_Site_p.P326_splice|LSS_ENST00000457828.2_Splice_Site_p.P257_splice|LSS_ENST00000356396.4_Splice_Site_p.P337_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	337					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCACTGACCGGGCCGATGC	0.642000													7	67					0	0	0.008291	0	0
KATNA1	11104	broad.mit.edu	37	6	149919454	149919454	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:149919454A>C	ENST00000367411.2	-	8	1179	c.921T>G	c.(919-921)atT>atG	p.I307M	KATNA1_ENST00000335643.8_Missense_Mutation_p.I231M|KATNA1_ENST00000335647.5_Missense_Mutation_p.I307M|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	307					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTATCTCATCAATAAATATGG	0.393000													20	59					0	0	0.014323	0	0
NDC1	55706	broad.mit.edu	37	1	54269617	54269617	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:54269617G>C	ENST00000371429.3	-	10	1648	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	NDC1_ENST00000540001.1_Missense_Mutation_p.F350L|NDC1_ENST00000234725.8_Missense_Mutation_p.F235L|NDC1_ENST00000537333.1_Missense_Mutation_p.F15L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		GGCTGAGGCTGAAAACTTCTT	0.393000													36	185					0	0	0.006999	0	0
SETD9	133383	broad.mit.edu	37	5	56212663	56212663	+	Silent	SNP	T	T	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:56212663T>G	ENST00000285947.2	+	6	1220	c.834T>G	c.(832-834)ctT>ctG	p.L278L	SETD9_ENST00000541720.1_Intron|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	278																	GTGTTGTTCTTGTCGCACTTA	0.333000													13	25					0	0	0.002450	0	0
SLC26A1	10861	broad.mit.edu	37	4	982693	982693	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:982693G>A	ENST00000361661.2	-	4	2411	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	IDUA_ENST00000509744.1_Intron|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Silent_p.L678L|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	678	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGCACACTGAGGAACAGCT	0.672000													4	15					0	0	0.009096	0	0
RFPL3	10738	broad.mit.edu	37	22	32756682	32756682	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr22:32756682G>A	ENST00000249007.4	+	2	1022	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.V244I|RFPL3_ENST00000382088.3_Missense_Mutation_p.V244I|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	273	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATTCAGGAGCGTCTCTGCTGA	0.483000													14	47					0	0	0.003163	0	0
KIAA0247	9766	broad.mit.edu	37	14	70175519	70175519	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:70175519G>C	ENST00000342745.4	+	5	897	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	195						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GCTGACCCCAGAGTACAGATT	0.592000													18	89					0	0	0.006122	0	0
KMT2D	8085	broad.mit.edu	37	12	49438545	49438545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:49438545C>A	ENST00000301067.7	-	19	4944	c.4945G>T	c.(4945-4947)Gag>Tag	p.E1649*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGAGCAGCTCATCGGTGTCC	0.607000													17	50					9.7654e-05	0.000107619	0.007413	1	0
FMN2	56776	broad.mit.edu	37	1	240601464	240601464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:240601464T>A	ENST00000319653.9	+	16	5244	c.5014T>A	c.(5014-5016)Ttt>Att	p.F1672I	FMN2_ENST00000545751.1_Missense_Mutation_p.F268I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1672	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCTGACTTTAAAGACTT	0.383000													15	117					0	0	0.006122	0	0
OPN4	94233	broad.mit.edu	37	10	88425489	88425489	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:88425489G>T	ENST00000372071.2	+	11	1678	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	OPN4_ENST00000241891.5_Missense_Mutation_p.S473I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	473					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.S484I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGATCCCCAGCCAGGACCCC	0.577000													23	54					1.10923e-09	1.31645e-09	0.002780	1	0
LACE1	246269	broad.mit.edu	37	6	108843529	108843529	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:108843529C>T	ENST00000368977.4	+	13	1533	c.1347C>T	c.(1345-1347)acC>acT	p.T449T		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	449							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCATGTTTACCGGAGAAGAGG	0.378000													11	73					0	0	0.008291	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000449859.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562000													40	286					0	0	0.006999	0	0
CEP76	79959	broad.mit.edu	37	18	12697408	12697408	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr18:12697408C>T	ENST00000262127.2	-	5	746		c.e5-1		RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Splice_Site	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTCCATCACCTAGCAATATA	0.299000													18	52					0	0	0.006122	0	0
LAMP3	27074	broad.mit.edu	37	3	182841888	182841888	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:182841888G>C	ENST00000265598.3	-	6	1487	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	LAMP3_ENST00000466939.1_Missense_Mutation_p.S387C	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	411					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGTATCCAGATGATTGACA	0.453000													34	62					0	0	0.003755	0	0
APBA2	321	broad.mit.edu	37	15	29390768	29390768	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:29390768G>T	ENST00000558402.1	+	10	1926	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	APBA2_ENST00000558259.1_Missense_Mutation_p.A443S|APBA2_ENST00000411764.1_Missense_Mutation_p.A431S|APBA2_ENST00000561069.1_Missense_Mutation_p.A443S|APBA2_ENST00000558330.1_Missense_Mutation_p.A431S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	443	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGTTTTAAATGCAGACACGCA	0.468000													7	50					0.00198382	0.00210051	0.001984	1	0
MRPS15	64960	broad.mit.edu	37	1	36926866	36926866	+	Splice_Site	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:36926866T>C	ENST00000373116.5	-	4	460	c.300_splice	c.e4+1	p.K100_splice		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	100					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTCACCTTGTTGGCCAT	0.527000													17	32					0	0	0.004990	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213722	35213722	+	Splice_Site	SNP	A	A	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:35213722A>G	ENST00000274938.7	+	20	2601	c.2599_splice	c.e20-1	p.S867_splice	SCUBE3_ENST00000394681.1_Splice_Site_p.S883_splice	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	867	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTTCCCAGCATCCCCATCCT	0.572000													87	208					0	0	0.014410	0	0
KLHL25	64410	broad.mit.edu	37	15	86312285	86312285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:86312285C>T	ENST00000337975.5	-	2	1031	c.757G>A	c.(757-759)Gag>Aag	p.E253K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E253K|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	253						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGAGGGCCTCGCTGGAGACG	0.657000													8	23					0	0	0.003080	0	0
DNAI1	27019	broad.mit.edu	37	9	34514718	34514718	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:34514718C>A	ENST00000242317.4	+	18	1970	c.1799C>A	c.(1798-1800)gCa>gAa	p.A600E		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	600					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTTCGCAGCAGTCACCACA	0.567000									Kartagener syndrome				24	93					1.66031e-10	1.99237e-10	0.003954	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782195	41782195	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:41782195G>A	ENST00000392006.3	+	5	951	c.778G>A	c.(778-780)Gag>Aag	p.E260K	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E217K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E260K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E171K|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	260	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTATGCTTCGAGATGAAGGT	0.532000													12	88					0	0	0.013537	0	0
TRHDE	29953	broad.mit.edu	37	12	72666978	72666978	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:72666978C>T	ENST00000261180.4	+	1	516	c.420C>T	c.(418-420)cgC>cgT	p.R140R	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	140					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						CGCAGCTGCGCCTGTCGGGCC	0.697000													5	25					0	0	0.003080	0	0
RANBP2	5903	broad.mit.edu	37	2	109383270	109383270	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:109383270C>T	ENST00000283195.6	+	20	6401	c.6275C>T	c.(6274-6276)aCg>aTg	p.T2092M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2092	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATAACGACTACGATGAACCTG	0.413000													62	360					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	39010003	39010003	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:39010003G>T	ENST00000355481.4	+	67	10299	c.10168G>T	c.(10168-10170)Ggc>Tgc	p.G3390C	RYR1_ENST00000360985.3_Missense_Mutation_p.G3390C|RYR1_ENST00000359596.3_Missense_Mutation_p.G3390C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3390					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCCCAGGAGGGCGAGCTGCT	0.662000													6	20					0.00116845	0.00124943	0.001168	1	0
PBX2	5089	broad.mit.edu	37	6	32154198	32154198	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32154198C>T	ENST00000375050.4	-	9	1524	c.1254G>A	c.(1252-1254)acG>acA	p.T418T		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	418							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGTCCCTCCGTTGGGGATG	0.572000													3	32					0	0	0.004672	0	0
IL12RB1	3594	broad.mit.edu	37	19	18194250	18194250	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:18194250G>A	ENST00000600835.1	-	3	419	c.116C>T	c.(115-117)gCa>gTa	p.A39V	IL12RB1_ENST00000322153.6_Missense_Mutation_p.A39V|IL12RB1_ENST00000430026.2_Missense_Mutation_p.A39V|IL12RB1_ENST00000593993.1_Missense_Mutation_p.A39V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	39					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACCTGAGTCTGCATCCGGATA	0.567000													4	107					0	0	0.009096	0	0
SPTBN1	6711	broad.mit.edu	37	2	54849492	54849492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:54849492C>T	ENST00000333896.5	+	8	1278	c.893C>T	c.(892-894)gCc>gTc	p.A298V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A311V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	311					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATCACTTGCCTCTGACCTT	0.398000													10	91					0	0	0.006214	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59982801	59982801	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:59982801C>G	ENST00000265036.5	-	2	369	c.302G>C	c.(301-303)cGt>cCt	p.R101P	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R101P|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R74P	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	101	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTATAAGTGACGATTGTCTTC	0.428000													27	224					0	0	0.004656	0	0
CTBP2	1488	broad.mit.edu	37	10	126716163	126716163	+	Silent	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:126716163G>T	ENST00000309035.6	-	1	296	c.166C>A	c.(166-168)Cga>Aga	p.R56R	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TCCTGTGGTCGGTGGTTTGGC	0.637000													7	59					8.12818e-05	9.04994e-05	0.001984	1	0
DNAH10	196385	broad.mit.edu	37	12	124268604	124268604	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124268604C>T	ENST00000409039.3	+	8	952	c.927C>T	c.(925-927)atC>atT	p.I309I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	309	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGATGTGATCAAGGAATCCG	0.463000													28	41					0	0	0.005443	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578685	112578685	+	Silent	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:112578685C>G	ENST00000257604.5	+	5	917	c.300C>G	c.(298-300)ctC>ctG	p.L100L	TRAFD1_ENST00000412615.2_Silent_p.L100L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	100					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTTCCATTCTCAAACTGAAGG	0.463000													22	73					0	0	0.014323	0	0
HYDIN	54768	broad.mit.edu	37	16	70926425	70926425	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:70926425C>A	ENST00000393567.2	-	56	9406	c.9256G>T	c.(9256-9258)Gtg>Ttg	p.V3086L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3086										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGAGTCCACGGAAAAGCTG	0.453000													9	53					7.48243e-07	8.50634e-07	0.006214	1	0
CPN2	1370	broad.mit.edu	37	3	194063384	194063384	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:194063384G>A	ENST00000323830.3	-	2	137	c.48C>T	c.(46-48)gcC>gcT	p.A16A	CPN2_ENST00000429275.1_Silent_p.A16A	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	16					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGGCAGGCCTGGCCAGGAGCA	0.592000													6	68					0	0	0.001984	0	0
RRAGC	64121	broad.mit.edu	37	1	39317431	39317431	+	Splice_Site	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:39317431T>C	ENST00000373001.3	-	5	933		c.e5-2			NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C						apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ACCTGAATTCTTGGAAAAACA	0.323000													16	66					0	0	0.004007	0	0
PLXND1	23129	broad.mit.edu	37	3	129278515	129278515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:129278515C>T	ENST00000393239.1	-	32	5423	c.5245G>A	c.(5245-5247)Gag>Aag	p.E1749K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1749K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1749					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCCTCTTCTCAGCCTGCTCC	0.582000													41	133					0	0	0.006999	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441135	142441135	+	Silent	SNP	C	C	T	rs150126504	byFrequency	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:142441135C>T	ENST00000520105.1	+	5	1381	c.438C>T	c.(436-438)tgC>tgT	p.C146C	PTP4A3_ENST00000329397.1_Silent_p.C171C|PTP4A3_ENST00000521578.1_Silent_p.C171C|PTP4A3_ENST00000524028.1_Silent_p.C85C|PTP4A3_ENST00000349124.1_Silent_p.C146C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	171	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCCGGTGCTGCGTTATGTAGC	0.622000													16	84					0	0	0.006122	0	0
ITGAE	3682	broad.mit.edu	37	17	3661071	3661071	+	Missense_Mutation	SNP	C	C	G	rs143543471		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:3661071C>G	ENST00000263087.4	-	9	1047	c.949G>C	c.(949-951)Gag>Cag	p.E317Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	317	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGGGGGTCCTCGAATATGCCA	0.562000													33	239					0	0	0.012213	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32921801	32921801	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:32921801C>T	ENST00000361627.3	+	8	1665	c.943C>T	c.(943-945)Cta>Tta	p.L315L	ARHGAP11A_ENST00000565905.1_Silent_p.L126L|ARHGAP11A_ENST00000567348.1_Silent_p.L315L|ARHGAP11A_ENST00000563864.1_Silent_p.L315L|ARHGAP11A_ENST00000543522.1_Silent_p.L126L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	315					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCAGCCCAGCTATCTGAATC	0.343000													9	84					0	0	0.006214	0	0
EPHA10	284656	broad.mit.edu	37	1	38187398	38187398	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:38187398C>T	ENST00000373048.4	-	11	2079	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189K|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E694K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGAGGGCCTCGGCCAGGAAG	0.672000													5	24					0	0	0.000602	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129300	248129300	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:248129300C>G	ENST00000366480.3	+	1	766	c.667C>G	c.(667-669)Cta>Gta	p.L223V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATTATCTTGCTACTACCATT	0.448000													9	18					0	0	0.006214	0	0
PNPLA4	8228	broad.mit.edu	37	X	7868777	7868777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:7868777C>T	ENST00000381042.4	-	7	882	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	PNPLA4_ENST00000537427.1_Missense_Mutation_p.G151S|PNPLA4_ENST00000444736.1_Missense_Mutation_p.G238S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	238					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCATCAAAACCACACTGATAC	0.343000													5	10					0	0	0.000602	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510198	77510198	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:77510198C>T	ENST00000477717.1	+	3	806	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	191					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAACCTGCATCTCCTGAGCCA	0.587000													27	187					0	0	0.009535	0	0
UBL7	84993	broad.mit.edu	37	15	74738533	74738533	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:74738533G>A	ENST00000567435.1	-	11	1504	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	UBL7_ENST00000564488.1_Silent_p.D347D|UBL7_ENST00000395081.2_Silent_p.D347D|UBL7_ENST00000565335.1_Silent_p.D347D|UBL7_ENST00000361351.4_Silent_p.D347D			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	347	UBA.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGATGCCCATGTCACGTAGCT	0.602000													17	89					0	0	0.006122	0	0
COL4A1	1282	broad.mit.edu	37	13	110829000	110829000	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:110829000C>G	ENST00000375820.4	-	35	3062	c.2941G>C	c.(2941-2943)Ggg>Cgg	p.G981R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	981	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCTGCCCGTCCTTTCCA	0.577000													15	43					0	0	0.004007	0	0
SEC31B	25956	broad.mit.edu	37	10	102247522	102247522	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:102247522C>T	ENST00000370345.3	-	26	3488	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1131					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGGCAACCTCATGGAGCCCA	0.587000													4	31					0	0	0.000602	0	0
PRKACA	5566	broad.mit.edu	37	19	14211687	14211687	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:14211687C>T	ENST00000308677.4	-	5	566	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.V116M	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	124	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCGCCGGGCACGTACTCCATG	0.602000													11	52					0	0	0.010729	0	0
LIG4	3981	broad.mit.edu	37	13	108861732	108861732	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:108861732T>A	ENST00000356922.4	-	2	2157	c.1885A>T	c.(1885-1887)Aaa>Taa	p.K629*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.K629*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.K629*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	629					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGGGCAGCTTTCCGCTTTTTT	0.383000								Non-homologous end-joining					22	51					0	0	0.002780	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255845	50255845	+	RNA	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:50255845G>T	ENST00000420502.1	+	0	1189							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TAGGCTGGGGGGAAGGGGCTG	0.622000													16	20					3.35478e-16	4.11722e-16	0.003163	1	0
NCOA1	8648	broad.mit.edu	37	2	24929930	24929930	+	Silent	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:24929930C>A	ENST00000405141.1	+	14	2302	c.1591C>A	c.(1591-1593)Cga>Aga	p.R531R	NCOA1_ENST00000348332.3_Silent_p.R531R|NCOA1_ENST00000395856.3_Silent_p.R531R|NCOA1_ENST00000406961.1_Silent_p.R531R|NCOA1_ENST00000407230.1_Silent_p.R380R|NCOA1_ENST00000288599.5_Silent_p.R531R|NCOA1_ENST00000538539.1_Silent_p.R531R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	531	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATAATAACCGATCTTATTC	0.443000			T	PAX3	alveolar rhadomyosarcoma								16	83					2.23348e-06	2.51267e-06	0.004007	1	0
PTPRC	5788	broad.mit.edu	37	1	198713307	198713307	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:198713307C>T	ENST00000367376.2	+	26	2987	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	PTPRC_ENST00000352140.3_Missense_Mutation_p.P891L|PTPRC_ENST00000594404.1_Missense_Mutation_p.P778L|PTPRC_ENST00000442510.2_Missense_Mutation_p.P941L|PTPRC_ENST00000348564.6_Missense_Mutation_p.P780L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	939					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGTGAGCCGTCTCCACTA	0.368000													5	31					0	0	0.000602	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144068318	144068318	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:144068318A>T	ENST00000056217.5	+	6	3770	c.3596A>T	c.(3595-3597)cAt>cTt	p.H1199L	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.H121L	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1199	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGTGGATCATTTCCAACTT	0.488000													15	201					0	0	0.002780	0	0
PLG	5340	broad.mit.edu	37	6	161160163	161160163	+	Silent	SNP	G	G	A	rs61731712		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:161160163G>A	ENST00000308192.9	+	16	2004	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	647	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCTCGAACCGCATGTTCAGG	0.478000													34	82					0	0	0.003755	0	0
OVOL2	58495	broad.mit.edu	37	20	18022341	18022341	+	Silent	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr20:18022341C>A	ENST00000278780.6	-	3	590	c.348G>T	c.(346-348)tcG>tcT	p.S116S	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	116					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGAACCACCGAGTCGCTGC	0.612000													10	28					0.000673444	0.00072732	0.008291	1	0
DNAH10	196385	broad.mit.edu	37	12	124285882	124285882	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124285882G>A	ENST00000409039.3	+	15	2188	c.2163G>A	c.(2161-2163)acG>acA	p.T721T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	721	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATAGGAACGTTAAACGATG	0.463000													69	164					0	0	0.014410	0	0
YY2	404281	broad.mit.edu	37	X	21875473	21875473	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:21875473G>C	ENST00000429584.2	+	1	1369	c.871G>C	c.(871-873)Gct>Cct	p.A291P	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	291	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGTGGCAAAGCTTTTCTTGA	0.537000													52	82					0	0	0.014410	0	0
TMEM8A	58986	broad.mit.edu	37	16	426289	426289	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:426289C>T	ENST00000431232.2	-	6	1231	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	TMEM8A_ENST00000250930.3_Silent_p.T164T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	357					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGTCCTCCCGCGTGACTGGGT	0.672000													31	74					0	0	0.012213	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283477	33283477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:33283477G>A	ENST00000431845.2	-	2	1368	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S406F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGGGCATAGGAAGAGGGAGT	0.592000													33	212					0	0	0.012213	0	0
PCNT	5116	broad.mit.edu	37	21	47863774	47863774	+	Missense_Mutation	SNP	C	C	G	rs138097697		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47863774C>G	ENST00000359568.5	+	45	9859	c.9752C>G	c.(9751-9753)cCa>cGa	p.P3251R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3251					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGTCCCCCCCAACCCGGGAT	0.592000													40	73					0	0	0.009718	0	0
OTOP2	92736	broad.mit.edu	37	17	72927021	72927021	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:72927021G>T	ENST00000331427.4	+	6	1383	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	OTOP2_ENST00000580223.1_Missense_Mutation_p.G431W	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	431						integral to membrane		p.G431R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGACCGCCCGGGGCTGAGCC	0.622000													7	97					1.06961e-07	1.24213e-07	0.003080	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			19	44					0	0	0.014323	0	0
QRICH2	84074	broad.mit.edu	37	17	74287585	74287585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:74287585G>A	ENST00000262765.5	-	4	2904	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	909							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACATGCTGTTGATCTGGGTGT	0.512000													14	122					0	0	0.002450	0	0
P2RX7	5027	broad.mit.edu	37	12	121605311	121605311	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:121605311G>A	ENST00000328963.5	+	7	709	c.255G>A	c.(253-255)gaG>gaA	p.E85E	P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000546057.1_Silent_p.E255E|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.E165E			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	255						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGGCATTGAGATCTACTGGG	0.537000													16	80					0	0	0.004007	0	0
CTNNA1	1495	broad.mit.edu	37	5	138145779	138145780	+	In_Frame_Ins	INS	-	-	GTG			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:138145779_138145780insGTG	ENST00000302763.7	+	4	444_445	c.354_355insGTG	c.(352-357)tctgaa>tcGTGtgaa	p.118_119SE>SCE	CTNNA1_ENST00000518825.1_In_Frame_Ins_p.118_119SE>SCE|CTNNA1_ENST00000355078.5_In_Frame_Ins_p.15_16SE>SCE	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	118	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGCTCTTCTGTGAAGCGAGG	0.455													15	84	---	---	---	---					
AC108004.3	0	broad.mit.edu	37	17	260080	260081	+	RNA	INS	-	-	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:260080_260081insG	ENST00000466740.2	-	0	330																											CCGCGGTCCGTGGGGCACCGGG	0.688													2	4	---	---	---	---					
SLC5A10	125206	broad.mit.edu	37	17	18918511	18918512	+	Splice_Site	INS	-	-	GGTACGGGGGTGGGGGCC			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:18918511_18918512insGGTACGGGGGTGGGGGCC	ENST00000317977.6	+	10	1610_1611	c.1040_splice	c.e10+1	p.-346_splice	SLC5A10_ENST00000395647.2_Splice_Site_p.-429_splice|SLC5A10_ENST00000417251.2_Splice_Site_p.-377_splice|SLC5A10_ENST00000395645.3_Splice_Site_p.-413_splice|SLC5A10_ENST00000395643.2_Splice_Site_p.-386_splice|SLC5A10_ENST00000395642.1_Splice_Site_p.-346_splice			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCTGGTGGGACGGTACGGGGGT	0.644													9	10	---	---	---	---					
GGT3P	2679	broad.mit.edu	37	22	18769967	18769968	+	RNA	INS	-	-	AT	rs111331306		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr22:18769967_18769968insAT	ENST00000412448.1	-	0	834																											TAGGAGGAAAGAtttttttttc	0.535													2	4	---	---	---	---