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
RP11-156P1.3	0	broad.mit.edu	37	17	45131761	45131761	+	RNA	SNP	C	C	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:45131761C>G	ENST00000575173.1	-	0	418																											GGACAAGATCCTCAACAGGGA	0.473000													49	69					0	0	0.870114	0	0
ATRIP	84126	broad.mit.edu	37	3	48506335	48506335	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:48506335C>T	ENST00000412052.1	+	12	2344	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	ATRIP_ENST00000357105.6_Missense_Mutation_p.R594W|ATRIP_ENST00000346691.4_Missense_Mutation_p.R694W|ATRIP_ENST00000320211.3_Missense_Mutation_p.R721W	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	721					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCTGTCTGCGGGACACGGT	0.632000								Other conserved DNA damage response genes					4	37					0	0	0.150653	0	0
TCERG1	10915	broad.mit.edu	37	5	145838701	145838701	+	Silent	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:145838701T>C	ENST00000296702.5	+	4	731	c.693T>C	c.(691-693)gcT>gcC	p.A231A	TCERG1_ENST00000394421.2_Silent_p.A231A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	231	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.A231A(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggctcaggctcaggcacaag	0.687000													3	63					0	0	0.115264	0	0
NALCN	259232	broad.mit.edu	37	13	101763560	101763560	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	ENST00000251127.6	-	19	2291	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	737						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468000													5	260					0	0	0.217242	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			129	20					0	0	0.870114	0	0
LIMCH1	22998	broad.mit.edu	37	4	41646515	41646515	+	Splice_Site	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	ENST00000313860.7	+	10	1025		c.e10-1		LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000509277.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site|LIMCH1_ENST00000508501.1_Splice_Site	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCCACACTCAGGAGCACCAG	0.672000											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					0	0	0.335167	0	0
DPY19L2P1	0	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889																											ATCTTCGTAAAGTGGATGATT	0.423000													4	131					0	0	0.248553	0	0
HRNR	388697	broad.mit.edu	37	1	152192510	152192510	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	ENST00000368801.2	-	3	1670	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	532					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567000													45	377					0	0	0.840704	0	0
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567000													4	159					0	0	0.184627	0	0
C3P1	0	broad.mit.edu	37	19	10165979	10165979	+	RNA	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:10165979G>A	ENST00000495140.1	+	0	1607																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CACCTCCAAGGGGAACCCAGG	0.592000													15	109					0	0	0.539581	0	0
CTTN	2017	broad.mit.edu	37	11	70261803	70261803	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	ENST00000301843.8	+	7	643	c.437A>G	c.(436-438)gAg>gGg	p.E146G	CTTN_ENST00000376561.3_Missense_Mutation_p.E146G|CTTN_ENST00000346329.3_Missense_Mutation_p.E146G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	146						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532000													197	325					0	0	0.870114	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323365	135323365	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	ENST00000316077.9	-	5	709	c.489A>T	c.(487-489)agA>agT	p.R163S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R145S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R163S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	163						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323000													84	118					0	0	0.870114	0	0
FTO	79068	broad.mit.edu	37	16	53907734	53907734	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:53907734C>T	ENST00000471389.1	+	5	1154	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FTO_ENST00000394647.3_Missense_Mutation_p.A15V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	311	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGTTTTGGCCGGTTCACAA	0.383000													4	225					0	0	0.150653	0	0
DDI2	84301	broad.mit.edu	37	1	15956989	15956989	+	Silent	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:15956989G>A	ENST00000480945.1	+	3	609	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	146					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCCAACCCGCATGAGCTGT	0.517000													4	219					0	0	0.150653	0	0
PXDC1	221749	broad.mit.edu	37	6	3738299	3738299	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:3738299G>A	ENST00000380283.4	-	2	834	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	114	PX.				cell communication		phosphatidylinositol binding										ACTTTACAGGGCATGCTTATG	0.572000													5	349					0	0	0.217242	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	62					0	0	0.150653	0	0
IDH3B	3420	broad.mit.edu	37	20	2640677	2640677	+	Splice_Site	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	ENST00000380843.4	-	9	944	c.915_splice	c.e9+1	p.T305_splice	IDH3B_ENST00000380851.5_Splice_Site_p.T305_splice|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	305					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAGCCTCACCGTCTCAAAGAC	0.537000													8	327					0	0	0.335167	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977409	29977409	+	RNA	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:29977409T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGCAAAGGCATCTGAATGTGT	0.512000													3	59					0	0	0.335167	0	0
RGAG1	57529	broad.mit.edu	37	X	109695813	109695813	+	Silent	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	ENST00000465301.2	+	3	2214	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	RGAG1_ENST00000540313.1_Silent_p.P656P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	656										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGCCGCAAATGACAG	0.502000													4	166					0	0	0.150653	0	0
PEAR1	375033	broad.mit.edu	37	1	156880104	156880104	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	ENST00000338302.3	+	15	1982	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PEAR1_ENST00000292357.7_Missense_Mutation_p.G586D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	586	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	427					0	0	0.479597	0	0
NEDD1	121441	broad.mit.edu	37	12	97331097	97331097	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	ENST00000266742.4	+	9	1382	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	NEDD1_ENST00000411739.2_Missense_Mutation_p.S259F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S348F|NEDD1_ENST00000557644.1_Missense_Mutation_p.S355F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S259F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	348					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCTGCCACGTCCATTGCCACA	0.428000													6	266					0	0	0.248553	0	0
FPGT-TNNI3K	0	broad.mit.edu	37	1	74833604	74833604	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:74833604T>C	ENST00000370895.1	+	15	1615	c.1580T>C	c.(1579-1581)gTg>gCg	p.V527A	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V527A|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.V527A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.V527A|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V426A			Q59H18	TNI3K_HUMAN		426	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GGCTCCTATGTGTCTGTTCCA	0.313000													7	301					0	0	0.248553	0	0
NEK8	284086	broad.mit.edu	37	17	27065006	27065006	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	ENST00000268766.6	+	7	1093	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	353						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701000													40	55					0	0	0.840704	0	0
WDR49	151790	broad.mit.edu	37	3	167223186	167223186	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	ENST00000308378.3	-	13	2042	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	WDR49_ENST00000476376.1_Missense_Mutation_p.D404E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.D544E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAATTTATATCTTCTGATG	0.303000													3	99					0	0	0.115264	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	57					0	0	0.150653	0	0
IFT122	55764	broad.mit.edu	37	3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	ENST00000296266.3	+	19	2473	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_ENST00000348417.2_Missense_Mutation_p.A710T|IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512000													4	125					0	0	0.150653	0	0
ABTB2	25841	broad.mit.edu	37	11	34176285	34176285	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	ENST00000435224.2	-	15	3153	c.2729C>T	c.(2728-2730)aCa>aTa	p.T910I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T724I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	724							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592000													91	117					0	0	0.870114	0	0
CPXM2	119587	broad.mit.edu	37	10	125526579	125526579	+	Silent	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	ENST00000241305.3	-	10	1543	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	463					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522000													3	238					0	0	0.115264	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45131760	45131760	+	RNA	SNP	C	C	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:45131760C>A	ENST00000575173.1	-	0	418																											AGGACAAGATCCTCAACAGGG	0.473000													49	69					8.52529e-16	9.96618e-16	0.870114	1	0
ANKZF1	55139	broad.mit.edu	37	2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577000													5	222					0	0	0.217242	0	0
GPR128	84873	broad.mit.edu	37	3	100352130	100352130	+	Missense_Mutation	SNP	G	G	A	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	ENST00000273352.3	+	4	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313000													4	95					0	0	0.150653	0	0
RET	5979	broad.mit.edu	37	10	43609023	43609023	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	ENST00000355710.3	+	10	2011	c.1779A>G	c.(1777-1779)ggA>ggG	p.G593G	RET_ENST00000340058.5_Silent_p.G593G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	593			G -> E (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGTTGGGGGACACGAGCCTG	0.642000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	18					0	0	0.278610	0	0
DAW1	164781	broad.mit.edu	37	2	228750104	228750104	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:228750104G>C	ENST00000373666.2	+	2	714	c.78G>C	c.(76-78)aaG>aaC	p.K26N	DAW1_ENST00000545118.1_Missense_Mutation_p.K11N|DAW1_ENST00000309931.2_Missense_Mutation_p.K26N					dynein assembly factor with WDR repeat domains 1																		GAGAATTAAAGACTAAGTCCA	0.343000													17	218					0	0	0.557998	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669755	78669755	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	ENST00000286627.5	-	24	3894	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	KCNMA1_ENST00000372440.1_Missense_Mutation_p.A981V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1008V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1022V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1043V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1042V	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1039					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACTGACGGCAAATGCTGT	0.512000													4	83					0	0	0.150653	0	0
FLOT1	10211	broad.mit.edu	37	6	30708275	30708275	+	Missense_Mutation	SNP	G	G	A	rs139987312	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	ENST00000376389.3	-	7	788	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	FLOT1_ENST00000456573.2_Missense_Mutation_p.R142W|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	190						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCTCACCCGGATCCCAGCA	0.532000													101	138					0	0	0.870114	0	0
IGHG3	0	broad.mit.edu	37	14	106236010	106236010	+	RNA	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr14:106236010G>A	ENST00000390551.2	-	0	793																											TTTTGGAGATGGTTTTCTCGA	0.612000													8	494					0	0	0.335167	0	0
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000503823.1_Silent_p.C1094C|SLIT2_ENST00000273739.5_Silent_p.C1115C|SLIT2_ENST00000503837.1_Silent_p.C1098C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438000													5	215					0	0	0.184627	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299708	107299708	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	ENST00000282251.5	-	8	1277	c.1250C>A	c.(1249-1251)aCa>aAa	p.T417K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.T417K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	417							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418000													39	484					2.26627e-22	2.68715e-22	0.834066	1	0
OR5H6	79295	broad.mit.edu	37	3	97983515	97983515	+	Silent	SNP	T	T	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	ENST00000383696.2	+	1	428	c.387T>C	c.(385-387)ttT>ttC	p.F129F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAATGTTTTCTCTTGGCAA	0.368000													26	277					0	0	0.654019	0	0
FAM120A	23196	broad.mit.edu	37	9	96214360	96214360	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:96214360C>A	ENST00000277165.6	+	1	357	c.163C>A	c.(163-165)Cac>Aac	p.H55N	FAM120A_ENST00000375389.3_Missense_Mutation_p.H55N|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000340893.4_Missense_Mutation_p.H55N|FAM120A_ENST00000333936.5_Missense_Mutation_p.H55N	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	55						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACTGCCTGCACCGCCTCTA	0.736000													2	2					0.0784	0.0879351	0.115264	1	0
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507000													4	183					0	0	0.150653	0	0
GLP2R	9340	broad.mit.edu	37	17	9757822	9757822	+	Translation_Start_Site	SNP	A	A	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	ENST00000574745.1	+	0	406				GLP2R_ENST00000262441.5_Missense_Mutation_p.Y172F			O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor						G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCGTTATGCCTTGCTG	0.552000													99	825					0	0	0.870114	0	0
TBX20	57057	broad.mit.edu	37	7	35242048	35242048	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	ENST00000408931.3	-	8	1864	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	446						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAGTCATACAAATGGCGTCA	0.502000													13	21					0	0	0.411799	0	0
PDE6B	5158	broad.mit.edu	37	4	659049	659049	+	Silent	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	ENST00000255622.6	+	19	2242	c.2199A>G	c.(2197-2199)gcA>gcG	p.A733A	PDE6B_ENST00000429163.2_Silent_p.A454A|PDE6B_ENST00000496514.1_Silent_p.A733A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	733					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCAGGTCGCACTTCTCGTGG	0.627000													11	43					0	0	0.575678	0	0
LAMA2	3908	broad.mit.edu	37	6	129475728	129475728	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	ENST00000421865.2	+	8	1155	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	369	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R369L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388000													81	107					0	0	0.870114	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	165					0	0	0.184627	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923828	43923828	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43923828G>A	ENST00000329196.5	+	1	1573	c.1556G>A	c.(1555-1557)cGc>cAc	p.R519H	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	519						integral to membrane	aspartic-type endopeptidase activity										GCTGCCTGCCGCCAAGAGCTC	0.622000													5	107					0	0	0.184627	0	0
CSPP1	79848	broad.mit.edu	37	8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	ENST00000262210.5	+	11	1487	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A192T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443000													9	244					0	0	0.335167	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316103	38316103	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:38316103G>A	ENST00000311856.4	+	3	540	c.491G>A	c.(490-492)cGc>cAc	p.R164H	SLC22A13_ENST00000450935.2_Intron	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	164						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGATTGGCCGCAAGGCCACA	0.637000													3	57					0	0	0.150653	0	0
MACC1	346389	broad.mit.edu	37	7	20198861	20198861	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	ENST00000400331.5	-	5	1431	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H	MACC1_ENST00000332878.4_Missense_Mutation_p.Y375H|MACC1_ENST00000589011.1_Missense_Mutation_p.Y375H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	375					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGTCCATAAATTCCAATT	0.398000													66	90					0	0	0.870114	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	168					0	0	0.248553	0	0
WNT9B	7484	broad.mit.edu	37	17	44953783	44953783	+	Missense_Mutation	SNP	G	G	A	rs149931425	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	ENST00000393461.2	+	4	826	c.773G>A	c.(772-774)cGc>cAc	p.R258H	WNT9B_ENST00000290015.2_Missense_Mutation_p.R258H			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	258					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642000													52	80					0	0	0.870114	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448000													58	88					0	0	0.870114	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507277	130507277	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	ENST00000314830.8	-	7	1479	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SH2D3C_ENST00000373274.3_Missense_Mutation_p.A296T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A299T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A388T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A102T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A298T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	456					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTTTGGGGCACTTCCGGGA	0.662000													24	171					0	0	0.624587	0	0
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562000			T	ROS1	NSCLC								47	68					0	0	0.870114	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													7	66					0	0	0.278610	0	0
FOXP4	116113	broad.mit.edu	37	6	41554783	41554783	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	ENST00000373060.1	+	6	1005	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	FOXP4_ENST00000373063.3_Missense_Mutation_p.L183F|FOXP4_ENST00000409208.1_Missense_Mutation_p.L183F|FOXP4_ENST00000373057.3_Missense_Mutation_p.L181F|FOXP4_ENST00000307972.4_Missense_Mutation_p.L183F	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	183	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	53					0	0	0.307466	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								52	105					0	0	0.870114	0	0
PCDHA12	0	broad.mit.edu	37	5	140256670	140256670	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	ENST00000398631.2	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.R538H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692000													7	212					0	0	0.278610	0	0
SESN2	83667	broad.mit.edu	37	1	28598956	28598956	+	Silent	SNP	C	C	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	ENST00000253063.3	+	4	837	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	172					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652000													55	93					0	0	0.870114	0	0
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	ENST00000366474.1	+	1	778	c.778delC	c.(778-780)ctfs	p.P260fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													36	166	---	---	---	---					
STAG3L1	0	broad.mit.edu	37	7	74991539	74991539	+	RNA	DEL	C	C	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:74991539delC	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN								nucleus	binding										AGAGCATGttctttttttttt	0.418													2	4	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													4	6	---	---	---	---					
RP11-390F4.6	0	broad.mit.edu	37	9	6663835	6663836	+	RNA	INS	-	-	AAAC	rs150953125	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:6663835_6663836insAAAC	ENST00000413145.1	+	0	130																											GTCCTATTTGTaaacaaacaaa	0.411													4	3	---	---	---	---					
FAM208B	54906	broad.mit.edu	37	10	5784139	5784140	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:5784139_5784140delAA	ENST00000328090.5	+	14	3032_3033	c.2407_2408delAA	c.(2407-2409)tfs	p.N803fs	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	803																	GTTTTACAGCAATCAGAACAAA	0.396													70	220	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64375614	64375616	+	RNA	DEL	TCT	TCT	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:64375614_64375616delTCT	ENST00000561657.1	-	0	381																											ttcctctctctcttttcttgtct	0.512													6	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76944356	76944356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	ENST00000373344.5	-	7	763	c.549delA	c.(547-549)aafs	p.K183fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K145fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	183	ADD.		Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAATGGAATCTTTTTGAAAAT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						157	237	---	---	---	---