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
KCNAB1	7881	broad.mit.edu	37	3	156181519	156181519	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:156181519C>T	ENST00000302490.8	+	6	1328	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.L171F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	171						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACAACCAAACTCTACTGGGG	0.338000													8	29					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223865	42223865	+	Silent	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:42223865C>G	ENST00000221992.6	+	7	1623	c.1509C>G	c.(1507-1509)ccC>ccG	p.P503P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P503P|CEACAM5_ENST00000398599.4_Silent_p.P502P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	503	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGCCCAAGCCCTCCATCTCCA	0.532000													23	127					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	74					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423000													5	13					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187179284	187179284	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:187179284C>A	ENST00000264690.6	+	15	2022	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	612	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGTCTACACCAAAGTCGCT	0.517000													24	37					2.39556e-15	2.83822e-15	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77473103	77473103	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:77473103C>G	ENST00000560626.2	-	4	1641	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	389	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACTAGAGGGACTTTCATAATT	0.413000													9	28					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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)			28	7					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	58					0.014758	0.0153202	1	1	0
BRCC3	79184	broad.mit.edu	37	X	154305493	154305493	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154305493C>T	ENST00000369462.1	+	4	269	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	82					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCTTACGACGTTCTGATAA	0.413000													49	39					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719088	52719088	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52719088G>T	ENST00000322088.6	+	7	922	c.864G>T	c.(862-864)caG>caT	p.Q288H	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	288	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ctgccttccagaacCTGATGA	0.612000			Mis		clear cell ovarian carcinoma								16	60					4.7546e-09	5.51332e-09	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771352	157771352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:157771352C>T	ENST00000368176.3	-	6	969	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	301						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGATTGCTTCTGGCCCCAGT	0.532000													12	52					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166615897	166615897	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:166615897G>C	ENST00000392701.3	-	5	1797	c.1022C>G	c.(1021-1023)tCg>tGg	p.S341W	GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	341					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATCAGGAAGCGACTCCCAGCC	0.388000													4	26					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	64					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606948	116606948	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:116606948C>G	ENST00000369248.4	+	12	2003	c.1668C>G	c.(1666-1668)caC>caG	p.H556Q	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	556										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTCCAGACCACCCCAAAAATG	0.353000													3	22					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162764	91162764	+	Silent	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:91162764A>G	ENST00000546318.1	+	2	1926	c.639A>G	c.(637-639)ctA>ctG	p.L213L	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L244L	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	244					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAGCTCTAGCCAACATGT	0.418000													102	62					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447499	91447499	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:91447499C>G	ENST00000360468.3	+	1	80	c.62C>G	c.(61-63)tCg>tGg	p.S21W	MAN2A2_ENST00000559717.1_Missense_Mutation_p.S21W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	21					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGTCTTCTCGCTCTACCTC	0.557000													25	44					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65729347	65729347	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:65729347C>T	ENST00000312397.5	+	1	188	c.96C>T	c.(94-96)caC>caT	p.H32H	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	32					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cgccgcggcaccgggaacaca	0.721000													3	9					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054608	2054608	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:2054608G>A	ENST00000382203.1	+	6	1267	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R353H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R353H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	353					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTCAGGCCCGCATAGCTCAT	0.398000													4	76					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697000													13	8					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863781	106863781	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:106863781G>T	ENST00000379987.2	+	8	1297	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	NPNT_ENST00000305572.8_Missense_Mutation_p.A361S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S|NPNT_ENST00000427316.2_Missense_Mutation_p.A391S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	361	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCACCAGCTGCCAGTACACC	0.517000													13	84					9.31168e-06	1.04636e-05	1	1	0
SVILP1	0	broad.mit.edu	37	10	30984944	30984944	+	RNA	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:30984944C>T	ENST00000435645.1	+	0	232																											GTCAACCTGACGGAACAGAAC	0.547000													3	25					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135825	32135825	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:32135825G>A	ENST00000312561.4	+	4	2350	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGGGTTTTGGACAACTCCTT	0.418000													11	56					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126132950	126132950	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:126132950G>A	ENST00000393425.1	+	4	252	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCDC37_ENST00000510833.1_Silent_p.A51A|CCDC37_ENST00000505024.1_Silent_p.A51A|CCDC37_ENST00000352312.1_Silent_p.A51A			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	51										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACCCTTCAGCGAACCCTTTCC	0.572000													61	119					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:242021733G>A	ENST00000310397.8	+	29	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582000													37	63					0	0	1	0	0
MMP2	0	broad.mit.edu	37	16	55523609	55523609	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:55523609C>A	ENST00000219070.4	+	7	1562	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	MMP2_ENST00000570308.1_Missense_Mutation_p.F275L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L|MMP2_ENST00000437642.2_Missense_Mutation_p.F301L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	351	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCTGTGTCTTCCCCTTCACTT	0.577000													28	49					2.44723e-14	2.86826e-14	1	1	0
CNPY1	285888	broad.mit.edu	37	7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:155301672C>A	ENST00000321736.5	-	2	223	c.61G>T	c.(61-63)Gct>Tct	p.A21S	CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403000													6	18					0.0215528	0.0221627	1	1	0
CDK10	8558	broad.mit.edu	37	16	89762026	89762026	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:89762026A>C	ENST00000331006.8	+	12	2609	c.868A>C	c.(868-870)Acc>Ccc	p.T290P	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000353379.7_Missense_Mutation_p.T337P			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	337	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCTCATGCCGACCTTTCCCCA	0.672000													5	9					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458098	48458098	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:48458098T>A	ENST00000218056.5	+	4	1021	c.516T>A	c.(514-516)gaT>gaA	p.D172E	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	172						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGCACGTGGATGAGGCAGGTG	0.572000													17	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635252	179635252	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:179635252G>C	ENST00000589042.1	-	35	8491	c.8267C>G	c.(8266-8268)tCt>tGt	p.S2756C	TTN_ENST00000460472.2_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S2756C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2494							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGACAGAGATAGCATA	0.443000													10	61					0	0	1	0	0
RP11-403I13.8	0	broad.mit.edu	37	1	149288711	149288711	+	RNA	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:149288711G>A	ENST00000433084.1	+	0	1261																											CTCCACCCCCGGCGCCCAACC	0.657000													3	7					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1580603	1580603	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:1580603T>C	ENST00000407249.3	-	7	523	c.524A>G	c.(523-525)gAa>gGa	p.E175G	CDK11B_ENST00000317673.7_Missense_Mutation_p.E173G|CDK11B_ENST00000340677.5_Missense_Mutation_p.E162G|CDK11B_ENST00000341832.6_Missense_Mutation_p.E128G			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	172	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCGCTTCCTTTCTAACTGCTC	0.602000													5	43					0	0	1	0	0
FAM178A	0	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:102689755G>A	ENST00000238961.3	+	8	2481		c.e8+1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		TTATTCTTAAGTAAGTAGAAA	0.264000													6	13					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32459673	32459673	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:32459673C>T	ENST00000283365.9	+	19	2251	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000399113.3_Missense_Mutation_p.R691C|DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	691					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R339C(1)|p.R691C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTACCATGCGTGGCGACAT	0.433000													4	23					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033136	41033136	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:41033136C>G	ENST00000380620.3	+	5	1242	c.650C>G	c.(649-651)aCc>aGc	p.T217S	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	217					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGCTCCGGCACCGGCTACGTG	0.512000													33	38					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55038789	55038789	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:55038789G>C	ENST00000474759.1	+	32	2738		c.e32-1		CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTTCCTGTAGAATTACCCTT	0.453000													11	39					0	0	1	0	0
CNR1	0	broad.mit.edu	37	6	88854544	88854544	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:88854544C>G	ENST00000537554.1	-	2	4012	c.450G>C	c.(448-450)agG>agC	p.R150S	CNR1_ENST00000369501.2_Missense_Mutation_p.R150S|CNR1_ENST00000468898.1_Missense_Mutation_p.R117S|CNR1_ENST00000549716.1_Missense_Mutation_p.R89S|CNR1_ENST00000549890.1_Missense_Mutation_p.R150S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R150S|CNR1_ENST00000535130.1_Missense_Mutation_p.R150S|CNR1_ENST00000428600.2_Missense_Mutation_p.R150S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	150					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTAGGAAGGCCTGCAGCGGA	0.602000													3	28					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888171	132888171	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:132888171T>C	ENST00000370818.3	-	3	815	c.370A>G	c.(370-372)Aac>Gac	p.N124D	GPC3_ENST00000543339.1_Missense_Mutation_p.N70D|GPC3_ENST00000394299.2_Missense_Mutation_p.N124D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	124						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGTAGTTCTTGGCATGG	0.368000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				50	86					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839206	83839206	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:83839206C>A	ENST00000349129.2	+	16	2580	c.2320C>A	c.(2320-2322)Cgt>Agt	p.R774S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	774					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATCAGAGTTACGTTCTGAAAA	0.393000													8	24					0.00621372	0.00651245	1	1	0
RPS28	6234	broad.mit.edu	37	19	8386953	8386953	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:8386953G>C	ENST00000600659.2	+	3	235	c.204G>C	c.(202-204)ttG>ttC	p.L68F		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	68					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										CCCGGAGGTTGCGCTGAGCTT	0.602000													4	8					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55872564	55872564	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:55872564G>A	ENST00000447944.2	-	22	1828	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	581					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCTTTTTTGCCACTAGAAG	0.294000													8	21					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451418	105451418	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:105451418C>A	ENST00000337685.2	+	5	2778	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	MUM1L1_ENST00000357175.2_Missense_Mutation_p.L665I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L665I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	665										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAAGTATCTAAAAGGACC	0.338000													3	2					0.004672	0.00494416	1	1	0
TLN2	83660	broad.mit.edu	37	15	63084975	63084975	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:63084975G>A	ENST00000561311.1	+	45	6102	c.5872G>A	c.(5872-5874)Gtc>Atc	p.V1958I	TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I			Q9Y4G6	TLN2_HUMAN	talin 2	1958					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCCGTGCCGTCACGGAAAA	0.577000													8	19					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118107897	118107897	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:118107897A>G	ENST00000278949.4	-	3	374	c.319T>C	c.(319-321)Tac>Cac	p.Y107H	MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	107	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCCTTTGTATACATTTCCA	0.423000													55	70					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344803	38344803	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38344803A>T	ENST00000374618.3	+	5	1929	c.1751A>T	c.(1750-1752)cAt>cTt	p.H584L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H583L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TACGAATGTCATGAATGTGGA	0.378000													25	49					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	59					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150405020	150405020	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:150405020G>A	ENST00000388825.4	+	2	299	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	69					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TTGTCAACGTGGCCAGCTACT	0.517000													7	42					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872940	55872940	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:55872940G>T	ENST00000313503.1	+	1	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAAGGCTCTGCCTCGCTCTC	0.458000										HNSCC(53;0.14)			12	424					7.03913e-09	8.07647e-09	1	1	0
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						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)		CGGCGATTTGCCGCCCTCAGT	0.622000													5	181					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910256	132910256	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:132910256G>T	ENST00000258034.2	-	1	621	c.570C>A	c.(568-570)ggC>ggA	p.G190G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	190					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCTGGCAACTGCCCACACAAG	0.498000													6	68					0.00116845	0.001261	1	1	0
C19orf70	125988	broad.mit.edu	37	19	5679659	5679659	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:5679659G>T	ENST00000309324.4	-	2	554	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|C19orf70_ENST00000585605.1_5'UTR|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	49							protein binding			endometrium(1)|lung(1)	2						ATGGCGGGGGGGACCACCTCC	0.657000													10	22					2.17888e-05	2.42345e-05	1	1	0
ENC1	8507	broad.mit.edu	37	5	73932112	73932112	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:73932112A>G	ENST00000302351.4	-	2	1329	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	ENC1_ENST00000537006.1_Missense_Mutation_p.C67R|ENC1_ENST00000510316.1_5'UTR	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	67	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TAGCGACTGCATGCAGCCAGC	0.542000													19	8					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:157528639C>T	ENST00000346085.5	+	20	6365	c.6364C>T	c.(6364-6366)Cgc>Tgc	p.R2122C	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109C|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2109					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGTTGGGGATCGCAAAAACCC	0.488000													39	176					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	96					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	477							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAGTTTACACGGGTGATGGG	0.592000													5	53					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647149	37647149	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37647149T>C	ENST00000356958.4	-	3	439	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCAGGTGGCTGTAGGTCTCC	0.522000													10	30					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230164	7230164	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7230164A>T	ENST00000379938.2	+	10	2369	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	RREB1_ENST00000349384.6_Missense_Mutation_p.E611V|RREB1_ENST00000379933.3_Missense_Mutation_p.E611V|RREB1_ENST00000334984.6_Missense_Mutation_p.E611V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	611					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGAGCATGGAGGCCAAGATC	0.657000													4	53					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221397	55221397	+	RNA	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:55221397G>C	ENST00000413439.1	+	0	1177																											CCCCTGGGGAGAATCTGACCC	0.627000													14	23					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79918282	79918282	+	Silent	SNP	C	C	G	rs114465555	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:79918282C>G	ENST00000344726.5	-	3	206	c.78G>C	c.(76-78)cgG>cgC	p.R26R	HMGN3_ENST00000275036.7_Silent_p.R26R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	26					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATCTGGCAGACCGTCTTGTGG	0.353000													27	100					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79362391	79362391	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:79362391G>C	ENST00000264895.6	+	41	6045	c.5605G>C	c.(5605-5607)Gat>Cat	p.D1869H	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1869H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1868					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTCCAGAGAGATGCCATCAT	0.423000													5	10					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185347	154185347	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154185347C>T	ENST00000360256.4	-	11	1837	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTCAGGCACCGAGGATCTGA	0.413000													79	98					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761661	106761661	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:106761661G>C	ENST00000283148.7	-	6	554	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A	UXS1_ENST00000409501.3_Missense_Mutation_p.P148A|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	148					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTAGAGGGGCTCCACCACG	0.527000													16	48					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140272382	140272382	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:140272382C>T	ENST00000296543.5	+	8	1172	c.849C>T	c.(847-849)gcC>gcT	p.A283A	NAA15_ENST00000398947.1_Silent_p.A283A|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	283					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAGGAAGCCTGGACTAAAT	0.318000													14	6					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483678	202483678	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:202483678G>T	ENST00000439140.1	-	1	220	c.176C>A	c.(175-177)aCg>aAg	p.T59K	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	59										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGGGCCGTCGTGCCCTGGTT	0.647000													13	37					4.3838e-07	4.97744e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55568610	55568610	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:55568610T>C	ENST00000395445.1	-	36	5594	c.5200A>G	c.(5200-5202)Agt>Ggt	p.S1734G	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCACTTTCCACACCT	0.507000										HNSCC(58;0.16)			5	8					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107165066	107165066	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:107165066A>C	ENST00000245323.4	-	2	366	c.217T>G	c.(217-219)Tat>Gat	p.Y73D		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	73					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAATATTCATACTGGCCAACA	0.388000													8	53					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:16870140G>A	ENST00000524140.2	+	7	2292	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_ENST00000552788.1_Missense_Mutation_p.R625H|NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	625	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGCTGCTGCGCTTCCCGCCC	0.652000													10	30					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692521	153692521	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:153692521G>A	ENST00000369682.3	+	8	1868	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	565					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCACAACGTGCCAGACCT	0.697000													24	16					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613453	3613453	+	RNA	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:3613453G>A	ENST00000301749.7	-	0	1890				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCTCCTGAAATGCGTGA	0.642000													5	4					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924851	44924851	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:44924851C>G	ENST00000395699.2	-	1	109	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	33					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GAGGCCAGCTCCTGCGTCTCT	0.697000													3	21					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480588	32480588	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr22:32480588G>T	ENST00000266088.4	+	8	1077	c.827G>T	c.(826-828)tGg>tTg	p.W276L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	276					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACCTCCCATGGCCTGGGTTC	0.537000													5	53					0.00116845	0.001261	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13367	13367	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrM:13367G>A	ENST00000361567.2	+	1	1031	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	344					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TATGTGCTCCGGGTCCATCAT	0.443000													9	68					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924523	88924523	+	Missense_Mutation	SNP	A	A	G	rs61754379		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:88924523A>G	ENST00000263321.5	+	2	1475	c.973A>G	c.(973-975)Acc>Gcc	p.T325A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	325			T -> A (in OCA1B).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTGAGTTTGACCCAATATGA	0.418000													31	79					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413522	178413522	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:178413522C>T	ENST00000231188.5	-	8	1911	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R578H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	578					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCAGCTCAGGCGCACCACAGG	0.697000													21	6					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471732	75471732	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:75471732G>A	ENST00000427180.1	+	1	408	c.132G>A	c.(130-132)acG>acA	p.T44T	SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000591088.1_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	235					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCATTGTTACGAGGCAAAGTA	0.667000													7	17					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55981195	55981195	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:55981195C>A	ENST00000263923.4	-	5	799	c.504G>T	c.(502-504)aaG>aaT	p.K168N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	168	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAAATCTCTTTTCTGGGT	0.383000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			3	14					1	1	1	1	0
LRP1	4035	broad.mit.edu	37	12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:57571295C>T	ENST00000243077.3	+	26	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1428					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCGTGCACCGGGAGACCGG	0.667000													19	31					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192287	41192287	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:41192287C>G	ENST00000220509.5	+	4	1610	c.1271C>G	c.(1270-1272)aCg>aGg	p.T424R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	424					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCCTGGACACGGTCCTGGCC	0.617000													7	68					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772161	4772161	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:4772161G>T	ENST00000378191.4	+	2	612	c.231G>T	c.(229-231)ccG>ccT	p.P77P	AJAP1_ENST00000378190.3_Silent_p.P77P|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	77					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCCCGGCCCCGGTGTGGAGCC	0.776000													5	30					1	1	1	1	0
ZNF780A	284323	broad.mit.edu	37	19	40580527	40580527	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:40580527T>G	ENST00000450241.2	-	6	2031	c.1720A>C	c.(1720-1722)Act>Cct	p.T574P	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.T608P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P			O75290	Z780A_HUMAN	zinc finger protein 780A	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCAGTATGCAATTTC	0.413000													7	76					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585361	7585361	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7585361C>T	ENST00000379802.3	+	24	8207	c.7866C>T	c.(7864-7866)atC>atT	p.I2622I	DSP_ENST00000418664.2_Silent_p.I2023I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2622	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCAGCCATCTTTGACACAG	0.488000													22	81					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47796419	47796419	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:47796419C>A	ENST00000339998.6	-	14	1753	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGATCATTGTCAAAATTACCA	0.408000													7	82					0.00198382	0.00211996	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19685352	19685352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:19685352C>T	ENST00000284885.3	-	18	2108	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	692	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATTCTGAACCGCACTAAACC	0.448000													7	32					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47262018	47262018	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:47262018A>C	ENST00000311191.6	+	6	1083	c.854A>C	c.(853-855)aAg>aCg	p.K285T	LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T|LRCH1_ENST00000389798.3_Missense_Mutation_p.K285T	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	285										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CACATATTTAAGTATCTGAGC	0.373000													7	29					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732400	100732400	+	Missense_Mutation	SNP	G	G	A	rs111492335		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:100732400G>A	ENST00000306085.6	+	3	2104	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	603					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGGGACCGCGTGGCTGTCAG	0.692000													5	86					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52715971C>T	ENST00000322088.6	+	5	594	c.536C>T	c.(535-537)cCc>cTc	p.P179L	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								42	7					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478776	42478776	+	Silent	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:42478776T>C	ENST00000434000.1	-	9	717	c.435A>G	c.(433-435)gtA>gtG	p.V145V	GPATCH8_ENST00000591680.1_Silent_p.V223V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	223						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCTTCATCTACAGCCACTG	0.418000													22	63					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:99932018C>T	ENST00000524871.1	+	10	1345	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A352V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCAGGCGGTGCTGGAA	0.433000													35	34					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337																											TACTGATGAAAATAATAACAGAT	0.325													3	6	---	---	---	---					
ESPNP	0	broad.mit.edu	37	1	17039464	17039465	+	RNA	INS	-	-	AAAT	rs67904722	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:17039464_17039465insAAAT	ENST00000492551.1	-	0	194					NR_026567.1																						gcccagggaagaaatgcagccc	0.535													3	3	---	---	---	---					
RP5-1061H20.5	0	broad.mit.edu	37	1	229360270	229360273	+	RNA	DEL	TGTG	TGTG	-	rs113411142		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:229360270_229360273delTGTG	ENST00000430677.1	-	0	302																											tgtgagattctgtgtgtgtgtgtg	0.431													2	4	---	---	---	---					
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-561)tcgfs	p.S187fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	187					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436													25	44	---	---	---	---					
AC093818.1	0	broad.mit.edu	37	2	173400097	173400097	+	RNA	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:173400097delC	ENST00000450443.1	-	0	508				AC093818.1_ENST00000442417.1_RNA																							ggaggaatggcccaggctgcc	0.527													2	4	---	---	---	---					
LMCD1-AS1	0	broad.mit.edu	37	3	8482203	8482204	+	RNA	INS	-	-	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:8482203_8482204insG	ENST00000420095.1	-	0	571				LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA	NR_033378.1																						gtctgggaggtgggggtgcctc	0.787													4	4	---	---	---	---					
GUSBP1	0	broad.mit.edu	37	5	21534424	21534425	+	RNA	INS	-	-	AG	rs139770873		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:21534424_21534425insAG	ENST00000607545.1	+	0	314					NR_027026.1																						ACCCAACGCGAAGAGACTCCTT	0.485													4	2	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130785715	130785715	+	Splice_Site	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:130785715delC	ENST00000307984.5	-	23	3445		c.e23+1		RAPGEF6_ENST00000509018.1_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|FNIP1_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000512052.1_Splice_Site	NM_001164387.1	NP_001157859.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTACACTTACCCCAGACTCC	0.408													2	4	---	---	---	---					
SLC45A4	57210	broad.mit.edu	37	8	142228295	142228312	+	In_Frame_Del	DEL	CCCCGCTGGAGGTGGTGG	CCCCGCTGGAGGTGGTGG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	ENST00000519067.1	-	4	1577_1594	c.1274_1291delCCACCACCTCCAGCGGGG	c.(1273-1293)gac>g	p.ATTSSGD425del	SLC45A4_ENST00000517878.1_In_Frame_Del_p.ATTSSGD476del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.ATTSSGD425del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.ATTSSGD418del			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	476					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCTCGGTGTCCCCGCTGGAGGTGGTGGCCCCGCTCTG	0.679													7	106	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66466800	66466800	+	RNA	DEL	G	G	-	rs139943429	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:66466800delG	ENST00000424345.1	+	0	1433																											CCTCATCAGAGGACCCCAGAT	0.522													2	4	---	---	---	---					
RP11-508N22.9	0	broad.mit.edu	37	10	38454833	38454834	+	RNA	INS	-	-	GTGT	rs138441945	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38454833_38454834insGTGT	ENST00000419779.1	+	0	225																											CACTTTGCGGGgtgtgtgtgtg	0.465													3	3	---	---	---	---					
TPTE2P6	0	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													2	4	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													5	8	---	---	---	---					
AC026495.1	0	broad.mit.edu	37	15	20563408	20563417	+	RNA	DEL	CCTCTCCCTT	CCTCTCCCTT	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:20563408_20563417delCCTCTCCCTT	ENST00000581090.1	+	0	48_57																											CCTCCCAGAGcctctcccttcctctccctt	0.671													3	4	---	---	---	---					
RP11-347C12.2	0	broad.mit.edu	37	16	30307147	30307147	+	RNA	DEL	A	A	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:30307147delA	ENST00000411546.3	-	0	1130					NR_002453.4																						attacatctcaaaaaaaaaaa	0.398													2	4	---	---	---	---					
VPS35	55737	broad.mit.edu	37	16	46708574	46708575	+	Splice_Site	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:46708574_46708575insA	ENST00000299138.7	-	9	973		c.e9-2		VPS35_ENST00000568642.1_Splice_Site	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAGCTAATCTAAAAAAAAAAA	0.342													3	3	---	---	---	---					
RP1-37N7.3	0	broad.mit.edu	37	17	18315107	18315108	+	RNA	INS	-	-	CT	rs113907775	by1000genomes	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:18315107_18315108insCT	ENST00000577684.1	+	0	635_636																											gccctcttctcctcactgtctt	0.604													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11048067	11048070	+	RNA	DEL	CTCT	CTCT	-	rs140519785		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11048067_11048070delCTCT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tagactaaagctctctgagtttca	0.333													4	2	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11054219	11054220	+	RNA	INS	-	-	A	rs151065601		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11054219_11054220insA	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTAAATGAAGTAAAGGGAGCAA	0.361													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11092162	11092164	+	RNA	DEL	TTG	TTG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11092162_11092164delTTG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTAGGTTTTTTGTTGTTGtttg	0.404													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs141935972		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													4	8	---	---	---	---					
AP001626.2	0	broad.mit.edu	37	21	44071343	44071343	+	RNA	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:44071343delC	ENST00000424890.1	-	0	11																											cgcggggttgcccccgtcacc	0.632													2	4	---	---	---	---					
APEX2	27301	broad.mit.edu	37	X	55033376	55033379	+	Frame_Shift_Del	DEL	GACG	GACG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:55033376_55033379delGACG	ENST00000374987.3	+	6	1131_1134	c.1065_1068delGACG	c.(1063-1068)tcfs	p.ST355fs		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	355					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGAGCAGTCGACGCTGCAGCACA	0.569								Other BER factors					14	52	---	---	---	---