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
C1QTNF1	114897	broad.mit.edu	37	17	77044107	77044107	+	Silent	SNP	C	C	T	rs56302593		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:77044107C>T	ENST00000339142.2	+	5	1338	c.783C>T	c.(781-783)agC>agT	p.S261S	C1QTNF1_ENST00000392445.2_Silent_p.S261S|C1QTNF1_ENST00000580474.1_Silent_p.S261S|C1QTNF1_ENST00000580454.1_Silent_p.S261S|C1QTNF1_ENST00000581774.1_Silent_p.S261S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Silent_p.S271S|C1QTNF1_ENST00000579760.1_Silent_p.S261S|C1QTNF1_ENST00000583904.1_Silent_p.S261S|C1QTNF1_ENST00000311661.4_Silent_p.S179S|C1QTNF1_ENST00000578229.1_Silent_p.S179S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	261	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCATCTTCAGCGAGGAGCTGG	0.612000													9	20					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776783	77776783	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:77776783G>T	ENST00000521891.2	+	11	11281	c.10833G>T	c.(10831-10833)atG>atT	p.M3611I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M3566I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M3562I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M3585I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3562						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATCCGAATGGATATGTTCA	0.363000										HNSCC(33;0.089)			4	17					0.150653	0.152447	1	1	0
MIOS	54468	broad.mit.edu	37	7	7612950	7612950	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:7612950C>G	ENST00000340080.4	+	4	1265	c.844C>G	c.(844-846)Cta>Gta	p.L282V	MIOS_ENST00000405785.1_Missense_Mutation_p.L282V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	282										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGGACTGGTCTACTTGCCAC	0.393000													24	38					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72093914	72093914	+	RNA	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:72093914C>T	ENST00000343721.5	-	0	758				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACACGAGCTGCGCGTAGGCCT	0.527000													3	13					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63831868	63831868	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:63831868G>A	ENST00000233114.8	+	6	972	c.537G>A	c.(535-537)aaG>aaA	p.K179K	MDH1_ENST00000409476.1_Silent_p.K55K|MDH1_ENST00000394423.1_Silent_p.K179K|MDH1_ENST00000539945.1_Silent_p.K197K|MDH1_ENST00000544381.1_Silent_p.K90K|MDH1_ENST00000409908.1_Silent_p.K14K	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	179					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	ATGATGTAAAGAATGTCATTA	0.373000													5	27					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531715	84531715	+	RNA	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr9:84531715C>G	ENST00000527857.1	+	0	1737					NR_026851.1																						ACCCTCGCCTCAAACCCTGCC	0.512000													4	22					0	0	1	0	0
DIRC1	116093	broad.mit.edu	37	2	189599476	189599476	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:189599476G>T	ENST00000308100.4	-	2	442	c.172C>A	c.(172-174)Cct>Act	p.P58T	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	58										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			ATGATGGAAGGCTCCAATGTT	0.428000													19	16					5.26018e-13	6.12486e-13	1	1	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			20	9					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128088035	128088035	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:128088035T>C	ENST00000409947.1	-	6	593	c.311A>G	c.(310-312)gAa>gGa	p.E104G	MAP3K2_ENST00000344908.5_Missense_Mutation_p.E104G			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	104	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATCCAGCAGTTCCACAGCTTT	0.358000													8	4					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959764	70959764	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:70959764C>T	ENST00000322954.6	-	16	3444	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	UACA_ENST00000379983.2_Missense_Mutation_p.E1074K|UACA_ENST00000560441.1_Missense_Mutation_p.E1072K|UACA_ENST00000539319.1_Missense_Mutation_p.E978K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1087						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTAGCTTCTCTTTCACATTC	0.373000													17	16					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208206832	208206832	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:208206832G>A	ENST00000367033.3	-	28	5644	c.4887C>T	c.(4885-4887)ggC>ggT	p.G1629G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1629					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGTCGGGGCTGCCCGTATACC	0.597000													14	10					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121953	90121953	+	RNA	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:90121953G>C	ENST00000483379.1	+	0	352																											ATTTAGCCTGGTTTCAGCAGA	0.522000													41	143					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564993	179564993	+	Silent	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:179564993G>T	ENST00000393371.2	-	1	356	c.60C>A	c.(58-60)ccC>ccA	p.P20P	RASGEF1C_ENST00000361132.4_Silent_p.P20P			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	20					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCTCGGTGGGGGGTGGGC	0.652000													20	26					2.44723e-14	2.9093e-14	1	1	0
PSMC4	5704	broad.mit.edu	37	19	40485867	40485867	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:40485867A>C	ENST00000157812.2	+	7	1015	c.817A>C	c.(817-819)Aag>Cag	p.K273Q	PSMC4_ENST00000455878.2_Missense_Mutation_p.K242Q	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATCGCCACCAAGAGATTCGA	0.582000													5	18					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52509029	52509029	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:52509029A>T	ENST00000216286.5	-	7	1618	c.1619T>A	c.(1618-1620)cTc>cAc	p.L540H	NID2_ENST00000541773.1_Missense_Mutation_p.L487H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	540	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCCACGTGGAGGTGGCCACT	0.557000													65	59					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197794	12197794	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:12197794G>C	ENST00000379033.3	+	6	561	c.414G>C	c.(412-414)ttG>ttC	p.L138F	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.L160F|SEC61A2_ENST00000304267.8_Missense_Mutation_p.L160F|SEC61A2_ENST00000379020.4_Missense_Mutation_p.L160F	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TTGCTGGTTTGATTGTGCTGC	0.473000													9	198					0	0	1	0	0
TRAV17	28666	broad.mit.edu	37	14	22465936	22465936	+	RNA	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:22465936C>A	ENST00000390445.2	+	0	159																											TGGAAACTCTCCTGGGAGTGT	0.468000													4	27					0.00909568	0.00937131	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70886019	70886019	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:70886019G>T	ENST00000333538.5	+	5	1524	c.890G>T	c.(889-891)tGg>tTg	p.W297L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	297						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGTACAGCTGGGAGCTGTGG	0.592000													39	67					4.00102e-26	5.03832e-26	1	1	0
BLVRA	644	broad.mit.edu	37	7	43830918	43830918	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:43830918G>A	ENST00000402924.1	+	5	368	c.205G>A	c.(205-207)Gag>Aag	p.E69K	BLVRA_ENST00000265523.4_Missense_Mutation_p.E69K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	69					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CCAAGAGGTGGAGGTCGCCTA	0.512000													7	80					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129209120	129209120	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:129209120G>A	ENST00000280333.6	+	43	4406	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1433	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGGGTGAACGAGGTCCAGCG	0.428000													5	13					0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122520593	122520593	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:122520593G>C	ENST00000389682.3	+	5	633	c.386G>C	c.(385-387)cGg>cCg	p.R129P	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Intron|TSN_ENST00000409193.1_Missense_Mutation_p.R124P	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	129					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GAGCCAGATCGGGAGAAAGGA	0.358000													3	24					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128658	161128658	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:161128658C>T	ENST00000523217.1	+	9	1453	c.1211C>T	c.(1210-1212)aCc>aTc	p.T404I	GABRA6_ENST00000274545.5_Missense_Mutation_p.T414I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	414			P -> S (in dbSNP:rs34907804).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGGAGGCACCAGTAAAATA	0.458000										TCGA Ovarian(5;0.080)			21	8					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524689	112524689	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:112524689C>T	ENST00000369697.1	-	1	729	c.660G>A	c.(658-660)gaG>gaA	p.E220E	KCND3_ENST00000315987.2_Silent_p.E220E|KCND3_ENST00000302127.4_Silent_p.E220E			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	220						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCGAGTAGCGCTCCCCGCACG	0.657000													18	19					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915771	119915771	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:119915771C>G	ENST00000272520.3	-	1	694	c.75G>C	c.(73-75)atG>atC	p.M25I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	25						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AGGTGCCCATCATCTCATAGT	0.741000										HNSCC(49;0.14)			3	10					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18534754	18534754	+	Silent	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:18534754C>A	ENST00000433979.1	+	13	1928	c.1812C>A	c.(1810-1812)ccC>ccA	p.P604P	PIK3C2G_ENST00000266497.5_Silent_p.P604P|PIK3C2G_ENST00000538779.1_Silent_p.P645P	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	604					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTGAGCCTCCCGTAGAAATGA	0.473000													9	79					1.11149e-13	1.30313e-13	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13809193	13809193	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:13809193C>T	ENST00000265104.4	-	46	7816	c.7712G>A	c.(7711-7713)aGg>aAg	p.R2571K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2571	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTCAGTCCTCACATTGTC	0.423000									Kartagener syndrome				29	64					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027610	37027610	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:37027610C>A	ENST00000358047.3	+	1	1179	c.1127C>A	c.(1126-1128)tCc>tAc	p.S376Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	376										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGTGTCCCATCTCTGC	0.637000													36	57					4.62619e-21	5.65793e-21	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2820117	2820117	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:2820117T>A	ENST00000602557.1	-	62	10057	c.9502A>T	c.(9502-9504)Agt>Tgt	p.S3168C	CSMD1_ENST00000537824.1_Missense_Mutation_p.S3167C|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2991C|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3168C|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2990C|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2991C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3168	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTCCCACTAAGTCGCCCT	0.517000													6	12					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69652259	69652259	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:69652259C>T	ENST00000453994.2	+	14	1924	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Silent_p.N470N|GDPD2_ENST00000536730.1_Silent_p.N391N|GDPD2_ENST00000538649.1_Silent_p.N391N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	470					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCACCACCAACGACTGCCAGC	0.512000													47	72					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774215	104774215	+	RNA	SNP	T	T	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr11:104774215T>A	ENST00000532510.1	-	0	3321																											TATCTTGTCATGGACACTCGT	0.408000													7	7					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27454929	27454929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:27454929G>T	ENST00000264705.4	+	17	2644	c.2482G>T	c.(2482-2484)Gag>Tag	p.E828*	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Nonsense_Mutation_p.E765*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	828	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCGCCTGTATGAGCTCACACG	0.542000													12	55					7.03913e-09	7.87271e-09	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47423670	47423670	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:47423670C>T	ENST00000404338.3	+	1	1738	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	580					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCGGTTTATCCGGCCGTCTGA	0.478000													38	33					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258615	16258615	+	Silent	SNP	C	C	T	rs139575390		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:16258615C>T	ENST00000375759.3	+	11	6084	c.5880C>T	c.(5878-5880)gcC>gcT	p.A1960A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1960					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCGGCGAGCCGATGAAGAGG	0.607000													20	31					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382364	41382364	+	Missense_Mutation	SNP	C	C	G	rs148305120	byFrequency	TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:41382364C>G	ENST00000377801.3	-	2	450	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	PLCXD3_ENST00000328457.3_Missense_Mutation_p.E126Q			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	126	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTGATCTCCTCAAGGCCTTCA	0.423000													57	47					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988270	113988270	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:113988270A>G	ENST00000297405.5	-	7	1382	c.1138T>C	c.(1138-1140)Tcc>Ccc	p.S380P	CSMD3_ENST00000352409.3_Missense_Mutation_p.S380P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S340P|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	380						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAACACTGGATACAGTAACA	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	117					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367700	142367700	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:142367700C>T	ENST00000377741.3	-	2	414	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	108						integral to plasma membrane	G-protein coupled receptor activity	p.T108T(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CAGCGAAGCGCGTGGGCAGGG	0.612000													6	49					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55079393	55079393	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:55079393G>A	ENST00000262288.3	+	12	1202	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	383					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GGAGGCCTGGGTGCGGAAACT	0.473000													9	75					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632651	32632651	+	Missense_Mutation	SNP	C	C	G	rs41556424		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:32632651C>G	ENST00000399084.1	-	3	481	c.303G>C	c.(301-303)gaG>gaC	p.E101D	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E101D|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E101D|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E101D|HLA-DQB1_ENST00000399082.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	101	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGGGTCCCCTCCAGGACTT	0.667000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				59	14					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629158	139629158	+	Splice_Site	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:139629158C>T	ENST00000303045.6	-	54	4315	c.3869G>A	c.(3868-3870)cGg>cAg	p.R1290Q	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.R1270Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1290	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1290Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCACTTACCCGGGGACCGGG	0.572000										HNSCC(7;0.00092)			24	26					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512832	41512832	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:41512832C>A	ENST00000324071.4	+	4	514	c.507C>A	c.(505-507)ttC>ttA	p.F169L	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	169					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCCCACCTTCCTCTTCCAGT	0.502000													16	10					0.00400662	0.00417869	1	1	0
BBS2	583	broad.mit.edu	37	16	56553680	56553680	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr16:56553680G>T	ENST00000245157.5	-	1	515	c.95C>A	c.(94-96)gCg>gAg	p.A32E	BBS2_ENST00000568104.1_Missense_Mutation_p.A32E	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	32					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGTGGCGGCCGCCAGGCACGG	0.687000									Bardet-Biedl syndrome				3	27					0.150653	0.152447	1	1	0
SOX5	6660	broad.mit.edu	37	12	23757434	23757434	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:23757434C>T	ENST00000546136.1	-	8	1014	c.1012G>A	c.(1012-1014)Gta>Ata	p.V338I	SOX5_ENST00000381381.2_Missense_Mutation_p.V338I|SOX5_ENST00000309359.1_Missense_Mutation_p.V338I|SOX5_ENST00000545921.1_Missense_Mutation_p.V341I|SOX5_ENST00000541536.1_Missense_Mutation_p.V338I|SOX5_ENST00000451604.2_Missense_Mutation_p.V351I|SOX5_ENST00000537393.1_Missense_Mutation_p.V316I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	351					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTGGAGATACCTGCATTGCA	0.473000													19	37					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365018	118365018	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:118365018A>T	ENST00000528052.1	+	12	1364	c.1293A>T	c.(1291-1293)aaA>aaT	p.K431N	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.K431N|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.K431N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	431	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCTCCCCAAAGTGGGTGCCA	0.413000													6	28					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806824	15806824	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:15806824C>G	ENST00000550308.1	+	10	1574	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.I398M	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTCCCTTCATCTCCCGATGCT	0.617000													5	50					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427031	135427031	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:135427031C>T	ENST00000394143.1	+	6	1457	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	GPR112_ENST00000394141.1_Missense_Mutation_p.S184L|GPR112_ENST00000370652.1_Missense_Mutation_p.S389L|GPR112_ENST00000412101.1_Missense_Mutation_p.S184L|GPR112_ENST00000287534.4_Missense_Mutation_p.S326L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	389					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTACAACTTCAGCAATTAAA	0.368000													30	38					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651512	1651512	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr11:1651512G>T	ENST00000399676.2	+	1	480	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	148	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G148C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTCCAAGGGGGGCTGTGGTTC	0.677000													47	33					3.76997e-23	4.71246e-23	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31282327	31282327	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr16:31282327C>G	ENST00000544665.3	+	6	551	c.480C>G	c.(478-480)agC>agG	p.S160R	ITGAM_ENST00000287497.8_Missense_Mutation_p.S160R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	160	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCTGGTAGCATCATCCCAC	0.463000													42	123					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72197348	72197348	+	Splice_Site	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:72197348C>A	ENST00000356056.5	-	20	3158		c.e20-1		MYO9A_ENST00000563542.1_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site|MYO9A_ENST00000566885.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAATGATGCCTGCAACAGAA	0.303000													4	23					0.00024832	0.000262201	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52376113	52376113	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:52376113A>T	ENST00000420592.1	-	6	2286	c.953T>A	c.(952-954)aTa>aAa	p.I318K	ZNF577_ENST00000451628.2_Missense_Mutation_p.I318K|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.I377K			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTCTCTCTTATGTGAGTTTT	0.443000													13	46					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79058961	79058961	+	Silent	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:79058961C>A	ENST00000446378.2	+	9	11515	c.11484C>A	c.(11482-11484)acC>acA	p.T3828T	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3828	Fibronectin type-III 2.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCGGCCCACCACCCCAGAGG	0.612000													10	8					1.58986e-06	1.69985e-06	1	1	0
AVIL	10677	broad.mit.edu	37	12	58204204	58204204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:58204204C>T	ENST00000537081.1	-	6	667	c.668G>A	c.(667-669)cGc>cAc	p.R223H	AVIL_ENST00000257861.3_Missense_Mutation_p.R230H			O75366	AVIL_HUMAN	advillin	230	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GATAATGGAGCGTCGGCCAAG	0.517000													6	43					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834311	125834311	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:125834311C>T	ENST00000299308.3	+	2	374	c.366C>T	c.(364-366)tcC>tcT	p.S122S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	122						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTGAAATCCCACATCCTTG	0.473000													36	59					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47083022	47083022	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:47083022C>A	ENST00000457458.2	+	2	504	c.84C>A	c.(82-84)gaC>gaA	p.D28E	CDK16_ENST00000357227.4_Missense_Mutation_p.D22E|CDK16_ENST00000518022.1_Missense_Mutation_p.D22E|CDK16_ENST00000276052.6_Missense_Mutation_p.D96E	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	22							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GAGGCATAGACAAGACCAATG	0.587000													14	31					7.93312e-07	8.59e-07	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20793050	20793050	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:20793050T>C	ENST00000404938.2	+	27	4149	c.3497T>C	c.(3496-3498)aTt>aCt	p.I1166T	ABCB5_ENST00000258738.6_Missense_Mutation_p.I721T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	721					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACTAGCTATTGCAAGGGCT	0.413000													32	37					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:140237348C>T	ENST00000307360.5	+	1	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCAGCGCGGGCGGTGCA	0.682000													6	37					0	0	1	0	0
SNORD3B-2	780852	broad.mit.edu	37	17	18967370	18967370	+	RNA	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:18967370C>T	ENST00000364880.1	-	0	79																											ctctcttcctcggggttttcg	0.498000													3	7					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915944	42915944	+	Silent	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:42915944C>A	ENST00000316161.4	-	1	1689	c.1365G>T	c.(1363-1365)ctG>ctT	p.L455L	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	455					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGACCATAAGCAGGATAAAGA	0.562000													28	2					4.22769e-11	4.85614e-11	1	1	0
EYS	346007	broad.mit.edu	37	6	66053990	66053990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:66053990C>T	ENST00000503581.1	-	10	2077	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	EYS_ENST00000370616.2_Missense_Mutation_p.V514M|EYS_ENST00000370621.3_Missense_Mutation_p.V514M|EYS_ENST00000342421.5_Missense_Mutation_p.V514M|EYS_ENST00000393380.2_Missense_Mutation_p.V514M|EYS_ENST00000370618.3_Missense_Mutation_p.V514M	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	514					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGATCGTTCACATAGGTTGCA	0.363000													13	22					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161573	43161573	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr21:43161573C>T	ENST00000352483.2	-	9	1988	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	RIPK4_ENST00000332512.3_Missense_Mutation_p.G594R|RIPK4_ENST00000544709.1_Missense_Mutation_p.G531R|RIPK4_ENST00000542057.1_Missense_Mutation_p.G531R			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	594						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACACTCACCCCCGGCTGCTTG	0.682000													9	73					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078988	135078988	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:135078988G>C	ENST00000428680.2	-	10	1579	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.Q437E|CNOT4_ENST00000361528.4_Missense_Mutation_p.Q434E|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.Q437E|CNOT4_ENST00000541284.1_Missense_Mutation_p.Q437E|CNOT4_ENST00000451834.1_Missense_Mutation_p.Q434E	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	437					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAGGAGTTCTGAAGAGATGTG	0.488000													6	53					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179123066	179123066	+	Silent	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:179123066T>C	ENST00000232564.3	-	9	1114	c.828A>G	c.(826-828)gtA>gtG	p.V276V	GNB4_ENST00000468623.1_Silent_p.V276V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	276					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			TTGAGAAGGCTACAGAAGTGA	0.423000													9	59					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120692428	120692428	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:120692428G>A	ENST00000263708.2	+	15	2020	c.1249G>A	c.(1249-1251)Ggt>Agt	p.G417S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G50S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	417						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCAGTTGGTCATTTGGT	0.388000													10	20					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100856150	100856150	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:100856150C>A	ENST00000223127.3	-	8	1250	c.852G>T	c.(850-852)caG>caT	p.Q284H		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	284					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCTCCGGTCCTGGTTGCAGA	0.647000													25	18					4.31634e-10	4.89185e-10	1	1	0
MSN	4478	broad.mit.edu	37	X	64949312	64949312	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:64949312G>A	ENST00000360270.5	+	4	377	c.205G>A	c.(205-207)Gat>Aat	p.D69N		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	69	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GACTGCCCAGGATGTGCGGAA	0.493000			T	ALK	ALCL								36	62					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536186	1536186	+	Silent	SNP	G	G	A	rs148668779		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr16:1536186G>A	ENST00000447419.2	-	3	1216	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.P392P			Q96A99	PTX4_HUMAN	pentraxin 4, long	397	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGACCCTCCGGGGGGGATCT	0.667000													9	18					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633735	49633735	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:49633735G>A	ENST00000334186.4	+	7	1107	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R253Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	253						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGCCAGCTGCGGGAGCGCCTG	0.687000													5	7					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356829	97356829	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:97356829G>A	ENST00000389672.5	+	14	2725	c.2687G>A	c.(2686-2688)cGg>cAg	p.R896Q	EPHA6_ENST00000502694.1_Missense_Mutation_p.R288Q|EPHA6_ENST00000514100.1_Missense_Mutation_p.R288Q|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	801	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTAGCGGCTCGGAATATACTG	0.443000													19	45					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255038	15255038	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:15255038G>C	ENST00000378116.4	-	8	2555	c.2549C>G	c.(2548-2550)cCc>cGc	p.P850R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	850						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTCTGGTGGGGGCTGGCTGC	0.622000													17	128					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713899	67713899	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:67713899G>A	ENST00000335894.4	+	16	2555	c.2489G>A	c.(2488-2490)aGc>aAc	p.S830N	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Missense_Mutation_p.S566N|IQCH_ENST00000360277.4_Missense_Mutation_p.S491N|IQCH_ENST00000546225.1_Missense_Mutation_p.S487N	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	830										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATAGATCCAAGCACCTTGGAA	0.413000													6	30					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579853	11579853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:11579853C>T	ENST00000294484.6	+	9	2254	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R706C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	706					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACGGGCAGCCGCGGCCATCT	0.667000													15	62					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552698	69552698	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:69552698C>A	ENST00000337103.4	+	7	2452	c.860C>A	c.(859-861)gCt>gAt	p.A287D	C8orf34_ENST00000325233.3_Missense_Mutation_p.A56D|C8orf34_ENST00000518698.1_Missense_Mutation_p.A398D|C8orf34_ENST00000539993.1_Missense_Mutation_p.A312D			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	312					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACTTACCCTGCTGAGCCTCAG	0.403000													15	42					2.35188e-11	2.71986e-11	1	1	0
COL6A1	1291	broad.mit.edu	37	21	47410901	47410901	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr21:47410901A>C	ENST00000361866.3	+	15	1179	c.1065A>C	c.(1063-1065)caA>caC	p.Q355H		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	355	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGCATTCAAGGACCCCCTG	0.637000													9	32					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52543815	52543815	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:52543815T>G	ENST00000594154.1	-	4	376	c.164A>C	c.(163-165)gAt>gCt	p.D55A	ZNF432_ENST00000221315.5_Missense_Mutation_p.D55A|ZNF432_ENST00000597273.1_Missense_Mutation_p.D55A			O94892	ZN432_HUMAN	zinc finger protein 432	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGAGAGTGCATCTGGTTTGCT	0.438000													20	39					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50280682	50280682	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr22:50280682C>T	ENST00000216268.5	+	2	3849	c.3372C>T	c.(3370-3372)tgC>tgT	p.C1124C		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TTTTGGGCTGCCCCCCAAGCA	0.552000													11	15					0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62592764	62592764	+	Silent	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr11:62592764C>G	ENST00000294179.3	-	7	741	c.588G>C	c.(586-588)gtG>gtC	p.V196V	STX5_ENST00000541317.1_Silent_p.V100V|STX5_ENST00000394690.1_Silent_p.V142V|STX5_ENST00000377897.4_Silent_p.V196V	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	196					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CCTCTGTCCTCACTTCTAAAA	0.458000													98	289					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879081	178879081	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:178879081T>C	ENST00000286063.6	-	2	1336	c.1019A>G	c.(1018-1020)cAa>cGa	p.Q340R	PDE11A_ENST00000358450.4_Missense_Mutation_p.Q90R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTTATCGCTTGGGCCACACC	0.383000									Primary Pigmented Nodular Adrenocortical Disease, Familial				22	5					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588525	93588525	+	Silent	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:93588525G>T	ENST00000329082.7	-	4	1327	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	RGMA_ENST00000556658.1_Silent_p.P243P|RGMA_ENST00000542321.2_Silent_p.P336P|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Silent_p.P360P|RGMA_ENST00000543599.1_Silent_p.P336P|RGMA_ENST00000425933.2_Silent_p.P336P|RGMA_ENST00000538818.1_Silent_p.P243P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	352					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGAAGGTCTCGGGGGCTGTGG	0.662000													3	16					1	1	1	1	0
IFT172	26160	broad.mit.edu	37	2	27684153	27684153	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:27684153C>A	ENST00000260570.3	-	22	2528	c.2425G>T	c.(2425-2427)Ggg>Tgg	p.G809W		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	809					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TAGAGTTCCCCCTTGATAAGG	0.572000													10	47					1.61879e-10	1.84694e-10	1	1	0
UROC1	131669	broad.mit.edu	37	3	126224595	126224595	+	Silent	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:126224595C>G	ENST00000290868.2	-	8	815	c.762G>C	c.(760-762)ggG>ggC	p.G254G	UROC1_ENST00000383579.3_Silent_p.G254G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	254					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGCCTGAGCCCCACTCATTC	0.642000													8	43					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28749853	28749853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:28749853C>T	ENST00000225719.4	+	5	1545	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	CPD_ENST00000543464.2_Missense_Mutation_p.S243L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	490	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TCTGGAACATCATCCTCCTAC	0.418000													11	123					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114179250	114179250	+	Silent	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr4:114179250C>A	ENST00000357077.4	+	12	1286	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	ANK2_ENST00000394537.3_Silent_p.I411I|ANK2_ENST00000264366.6_Silent_p.I411I|ANK2_ENST00000506722.1_Silent_p.I390I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	411					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAACCGCATCAAAGTCATGG	0.393000													24	26					1.33986e-20	1.62698e-20	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48654968	48654968	+	Silent	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:48654968A>G	ENST00000435803.1	+	59	14856	c.14832A>G	c.(14830-14832)aaA>aaG	p.K4944K	ABCA13_ENST00000544596.1_Silent_p.K674K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4944	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCACATCAAAAATAGGTGCG	0.418000													3	5					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688732	153688732	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:153688732C>T	ENST00000369682.3	+	2	384	c.209C>T	c.(208-210)cCc>cTc	p.P70L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	70	Sema.				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)					GTCACGGGGCCCGTCGAGGAC	0.662000													12	13					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020572	5020572	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:5020572G>T	ENST00000382545.3	+	2	1135	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	10					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGAACGTGGACGAGGCTTC	0.711000													22	28					1.1804e-14	1.41315e-14	1	1	0
ZNF131	7690	broad.mit.edu	37	5	43175157	43175157	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:43175157A>C	ENST00000509634.1	+	7	2148	c.1692A>C	c.(1690-1692)ttA>ttC	p.L564F	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.L598F|ZNF131_ENST00000505606.2_Missense_Mutation_p.L564F|ZNF131_ENST00000399534.1_Missense_Mutation_p.L598F|ZNF131_ENST00000306938.4_Missense_Mutation_p.L564F			P52739	ZN131_HUMAN	zinc finger protein 131	598						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CTGAGGATTTAGAGACCAAGC	0.453000													4	55					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326330	158326330	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:158326330T>C	ENST00000444681.2	+	4	943	c.650T>C	c.(649-651)aTa>aCa	p.I217T	CD1E_ENST00000368161.3_Silent_p.D281D|CD1E_ENST00000368166.3_Missense_Mutation_p.I127T|CD1E_ENST00000452291.2_Missense_Mutation_p.I127T|CD1E_ENST00000368167.3_Missense_Mutation_p.I316T|CD1E_ENST00000368156.1_Missense_Mutation_p.I226T|CD1E_ENST00000368154.1_Missense_Mutation_p.I72T|CD1E_ENST00000368157.1_Missense_Mutation_p.I72T|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368164.3_Silent_p.D92D|CD1E_ENST00000368160.3_Missense_Mutation_p.I316T|CD1E_ENST00000368155.3_Missense_Mutation_p.I171T|CD1E_ENST00000368165.3_Missense_Mutation_p.I226T|CD1E_ENST00000368163.3_Missense_Mutation_p.I261T	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	316	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTGACTGTGATAGTTACCCTG	0.388000													3	12					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995899	140995899	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:140995899G>T	ENST00000285879.4	+	4	2995	c.2709G>T	c.(2707-2709)ttG>ttT	p.L903F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	903							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGCCCTTGTTCACTTATA	0.478000										HNSCC(15;0.026)			83	145					2.33925e-33	2.9677e-33	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123498511	123498511	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:123498511C>G	ENST00000280562.5	-	3	362	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	PITPNM2_ENST00000542749.1_Missense_Mutation_p.G53R|PITPNM2_ENST00000546049.1_Missense_Mutation_p.G53R|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G53R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	53					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGAGCCGCCTGGGCCATCT	0.607000													16	44					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585136	158585136	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:158585136C>T	ENST00000368147.4	-	48	6838	c.6658G>A	c.(6658-6660)Ggg>Agg	p.G2220R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTTGTCCCCCAGGTCCACA	0.493000													35	86					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118924	194118924	+	Silent	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:194118924G>T	ENST00000401815.1	-	1	159	c.88C>A	c.(88-90)Cgg>Agg	p.R30R	GP5_ENST00000323007.3_Silent_p.R30R			P40197	GPV_HUMAN	glycoprotein V (platelet)	30	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGGCGTCCCGGAAGACACAC	0.677000													16	22					1.3612e-06	1.46459e-06	1	1	0
CLPSL1	340204	broad.mit.edu	37	6	35755644	35755644	+	Splice_Site	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:35755644G>T	ENST00000373861.5	+	3	317	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	CLPSL1_ENST00000542261.1_Splice_Site_p.V74L			A2RUU4	CF127_HUMAN	colipase-like 1	75					digestion|lipid catabolic process	extracellular region	enzyme activator activity										TCTTTCCCAGGTGTTCTTTGG	0.552000													8	34					3.09899e-07	3.3771e-07	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118220919	118220919	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:118220919G>C	ENST00000402510.2	-	11	4273	c.4274C>G	c.(4273-4275)cCt>cGt	p.P1425R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1425										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTGGTAGCAGGGGCTGGAAT	0.443000													48	49					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706439	96706439	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:96706439A>C	ENST00000389672.5	+	3	754	c.716A>C	c.(715-717)tAt>tCt	p.Y239S	EPHA6_ENST00000542517.1_Missense_Mutation_p.Y145S|EPHA6_ENST00000470610.2_Missense_Mutation_p.Y239S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	144						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAAACCAGTATACAAAGATC	0.428000													82	65					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													5	64					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366245	123366245	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:123366245A>G	ENST00000360772.3	-	28	4823	c.4445T>C	c.(4444-4446)gTa>gCa	p.V1482A	MYLK_ENST00000360304.3_Missense_Mutation_p.V1482A|MYLK_ENST00000346322.5_Missense_Mutation_p.V1413A|MYLK_ENST00000475616.1_Missense_Mutation_p.V1482A|MYLK_ENST00000359169.1_Missense_Mutation_p.V1482A|MYLK_ENST00000354792.5_Missense_Mutation_p.V282A			Q15746	MYLK_HUMAN	myosin light chain kinase	1482	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTCTTTTCTACAAGTCGAAA	0.443000													6	30					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353392	105353392	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:105353392G>C	ENST00000453495.1	+	12	3047	c.2819G>C	c.(2818-2820)gGg>gCg	p.G940A	CEP170B_ENST00000418279.1_Missense_Mutation_p.G869A|CEP170B_ENST00000556508.1_Missense_Mutation_p.G869A|CEP170B_ENST00000414716.3_Missense_Mutation_p.G939A					centrosomal protein 170B																		GAGTGTGAGGGGGGCAGCACC	0.682000													7	52					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96171752	96171752	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr4:96171752C>A	ENST00000453304.1	-	5	1009	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	UNC5C_ENST00000504962.1_Missense_Mutation_p.D221Y|UNC5C_ENST00000506749.1_Missense_Mutation_p.D221Y	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	221	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGGTTGTGATCAATAGTAATA	0.368000													34	80					1.414e-09	1.59192e-09	1	1	0
HCN1	348980	broad.mit.edu	37	5	45396800	45396800	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:45396800C>T	ENST00000303230.4	-	4	1081	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	342						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACTGCTTTCCCCAAGAATCA	0.428000													18	48					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23424355	23424355	+	Silent	SNP	G	G	A	rs146819079	byFrequency	TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:23424355G>A	ENST00000206474.7	-	2	261	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Silent_p.S3S|HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000555986.1_Silent_p.S3S|HAUS4_ENST00000555367.1_Silent_p.S3S|HAUS4_ENST00000342454.8_Silent_p.S3S|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Silent_p.S3S|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000397409.4_Silent_p.S3S			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	3					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						AGAAATCCCCGGATGCCATTT	0.418000													8	54					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084688	248084688	+	Silent	SNP	T	T	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:248084688T>G	ENST00000319968.4	+	1	369	c.369T>G	c.(367-369)gcT>gcG	p.A123A		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATGCGGCTGTCTGCCACC	0.617000													3	17					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14217703	14217703	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:14217703C>T	ENST00000403951.2	-	24	2618	c.2199G>A	c.(2197-2199)ctG>ctA	p.L733L	DGKB_ENST00000258767.5_Silent_p.L733L|DGKB_ENST00000406247.3_Silent_p.L733L|DGKB_ENST00000399322.3_Silent_p.L733L|DGKB_ENST00000407950.1_Silent_p.L725L|DGKB_ENST00000402815.1_Silent_p.L732L|DGKB_ENST00000444700.2_Silent_p.L714L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	733					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAGCACTTTTCAGGCCTGTGT	0.517000													29	37					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76225218	76225218	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:76225218G>A	ENST00000308275.3	+	7	1092	c.987G>A	c.(985-987)agG>agA	p.R329R	FBXO22_ENST00000540507.1_Silent_p.R225R	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	329					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCGTTGGCAGGGGCTTTCAGT	0.473000													26	12					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444283	5444283	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr11:5444283G>T	ENST00000300778.4	+	1	943	c.853G>T	c.(853-855)Gca>Tca	p.A285S	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACCTGCTGGCACCCCCGGT	0.453000													3	23					0.115264	0.118041	1	1	0
MYH6	4624	broad.mit.edu	37	14	23869939	23869939	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:23869939G>A	ENST00000405093.3	-	13	1459	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	MYH6_ENST00000356287.3_Silent_p.I463I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	463	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGCCAGCGATGTCCAGGA	0.547000													6	35					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701546	13701546	+	Splice_Site	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:13701546C>A	ENST00000265104.4	-	77	13443		c.e77-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAAGAAGCCTGCAATGAAG	0.353000									Kartagener syndrome				18	77					1.96895e-08	2.18772e-08	1	1	0
WISP1	8840	broad.mit.edu	37	8	134232956	134232956	+	Missense_Mutation	SNP	G	G	A	rs140648348	byFrequency	TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:134232956G>A	ENST00000250160.6	+	3	588	c.482G>A	c.(481-483)cGc>cAc	p.R161H	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGT	0.657000													25	119					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34796132	34796132	+	Splice_Site	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:34796132G>A	ENST00000265109.3	+	4	543	c.256G>A	c.(256-258)Gga>Aga	p.G86R	RAI14_ENST00000515799.1_Splice_Site_p.G89R|RAI14_ENST00000512629.1_Splice_Site_p.G86R|RAI14_ENST00000506376.1_Splice_Site_p.G78R|RAI14_ENST00000428746.2_Splice_Site_p.G86R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Splice_Site_p.G86R|RAI14_ENST00000397449.1_Splice_Site_p.G79R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	86						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATACTACCGGTATGTGGTT	0.428000													9	103					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2284316	2284316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr16:2284316G>A	ENST00000301727.4	+	10	1568	c.1520G>A	c.(1519-1521)cGt>cAt	p.R507H	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.R507H	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	507	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCCCATGTGCGTGGCCACCGG	0.642000													8	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070121	9070121	+	Silent	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:9070121T>C	ENST00000397910.4	-	3	17528	c.17325A>G	c.(17323-17325)gaA>gaG	p.E5775E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5777	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGATGTTGATTCAGTCTGAA	0.473000													16	39					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322835	55322835	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr11:55322835G>T	ENST00000314644.2	+	1	1053	c.1053G>T	c.(1051-1053)atG>atT	p.M351I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AACAGGCCATGAGGAGAATAT	0.333000										HNSCC(20;0.049)			17	21					1.15088e-07	1.26225e-07	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138266174	138266174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:138266174C>T	ENST00000302763.7	+	15	2113	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.Q572*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.Q675*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.Q305*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	675					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATCATGGCTCAGCTTCCCCA	0.468000													3	25					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41455850	41455850	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr21:41455850C>T	ENST00000400454.1	-	24	4693	c.4216G>A	c.(4216-4218)Ggc>Agc	p.G1406S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1406	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAGAGCTGCCCCCGTTGTCT	0.473000													18	8					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112437148	112437148	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:112437148C>T	ENST00000230538.7	-	36	5427	c.5030G>A	c.(5029-5031)cGt>cAt	p.R1677H	LAMA4_ENST00000389463.4_Missense_Mutation_p.R1670H|LAMA4_ENST00000424408.2_Missense_Mutation_p.R1670H|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1670H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1677	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTTCTGGGACGGACTTCAAA	0.408000													26	51					0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75401271	75401271	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:75401271G>A	ENST00000394905.2	-	3	381	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	CCL26_ENST00000005180.4_Missense_Mutation_p.L42F	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	42					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						GTCCAGGGAAGGGGCTTGTGG	0.522000													23	38					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132184909	132184909	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:132184909A>C	ENST00000260818.6	+	18	2211	c.1963A>C	c.(1963-1965)Att>Ctt	p.I655L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	655							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTGAAACGCATTTTGGTAAG	0.343000													7	19					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54483149	54483149	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr19:54483149C>T	ENST00000270458.2	+	3	499	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	132					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCATCTTCCCCATCCTTAGCG	0.657000													8	11					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354039	120354039	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:120354039C>T	ENST00000239032.2	-	2	856	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	PRLHR_ENST00000369169.1_Missense_Mutation_p.V240I	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	240					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGGAGGATGACCAGCAGAGGG	0.697000													3	3					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22067414	22067414	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr13:22067414T>C	ENST00000382374.4	-	12	1344	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		CCAGCTTGTTTCCAGACTTCT	0.303000													3	28					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699705	40699705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr12:40699705T>A	ENST00000298910.7	+	28	3954	c.3896T>A	c.(3895-3897)tTg>tAg	p.L1299*		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1299					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATCTTCCTTTGGATGAACTG	0.313000													11	12					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460481	110460481	+	Silent	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr8:110460481T>C	ENST00000378402.5	+	39	5990	c.5886T>C	c.(5884-5886)gaT>gaC	p.D1962D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1962	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGCCAATGATAGTGTGGTGC	0.428000										HNSCC(38;0.096)			7	26					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44969426	44969426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:44969426G>T	ENST00000377967.4	+	28	4149	c.4108G>T	c.(4108-4110)Gaa>Taa	p.E1370*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1325*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1377*|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E1291*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1370					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CGGAAACTTGGAAAACTTTGT	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								31	38					2.61193e-14	3.08353e-14	1	1	0
CRB2	286204	broad.mit.edu	37	9	126137569	126137569	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr9:126137569G>A	ENST00000373631.3	+	12	3581	c.3580G>A	c.(3580-3582)Gtg>Atg	p.V1194M	CRB2_ENST00000373629.2_Missense_Mutation_p.V862M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1194	EGF-like 15.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCTGGAGGGGTGTCTGAATG	0.637000													34	6					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947983	237947983	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:237947983A>G	ENST00000366574.2	+	90	13288	c.12971A>G	c.(12970-12972)aAg>aGg	p.K4324R	RYR2_ENST00000360064.6_Missense_Mutation_p.K4330R|RYR2_ENST00000542537.1_Missense_Mutation_p.K4308R|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4324					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGCTAAAAAGATCAAAGTT	0.542000													4	42					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60059727	60059727	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr17:60059727T>A	ENST00000397786.2	-	16	3713	c.3637A>T	c.(3637-3639)Aaa>Taa	p.K1213*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1213					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACACCACTTTTAGGAAAAGGA	0.388000													44	43					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35436916	35436916	+	Splice_Site	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr20:35436916C>G	ENST00000237536.4	-	8	3155	c.2814G>C	c.(2812-2814)gaG>gaC	p.E938D	SOGA1_ENST00000456801.2_Splice_Site_p.E541D|SOGA1_ENST00000279034.6_Splice_Site_p.E700D|SOGA1_ENST00000357779.3_Splice_Site_p.E700D	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	700										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAATCTTACCTCGAGGAAGT	0.587000											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681441	70681441	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr13:70681441G>T	ENST00000377844.4	-	1	1150	c.391C>A	c.(391-393)Cca>Aca	p.P131T	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	131					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCATGCCTGGCACCACCTCC	0.587000													8	50					0.00307968	0.00323176	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51824738	51824738	+	Silent	SNP	G	G	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:51824738G>C	ENST00000371117.3	-	36	6113	c.5838C>G	c.(5836-5838)gtC>gtG	p.V1946V	PKHD1_ENST00000340994.4_Silent_p.V1946V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1946	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCCACTGTGACGTTGTCGC	0.463000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	66					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101627200	101627200	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:101627200A>G	ENST00000310954.6	-	2	752	c.466T>C	c.(466-468)Tgt>Cgt	p.C156R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	156					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GACAACAAACAGAATGAAATA	0.388000													11	3					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611832	84611832	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:84611832A>G	ENST00000286744.5	+	19	2712	c.2488A>G	c.(2488-2490)Aag>Gag	p.K830E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.K830E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	830	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGACTGGTCGAAGGTAAGGGC	0.488000													8	28					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967427	142967427	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:142967427A>T	ENST00000370494.1	+	1	255	c.225A>T	c.(223-225)aaA>aaT	p.K75N		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	75							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGACCAAAATTTATCATC	0.408000													29	47					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119582338	119582338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:119582338C>A	ENST00000264235.8	-	9	2006	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.E355*|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	342					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TCCCGTAATTCATCAAAAAAT	0.483000													25	39					1.04121e-07	1.14939e-07	1	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74698808	74698808	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:74698808A>C	ENST00000541184.1	-	2	626	c.149T>G	c.(148-150)aTa>aGa	p.I50R	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.I59R|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.I59R	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	59						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ATGGTAGAGTATGAGGTAAAT	0.328000													11	8					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128902392	128902392	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:128902392C>T	ENST00000371106.3	+	21	2148	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	652					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCGCCAGGGCCCCAGACACCG	0.617000													19	41					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458563	155458563	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr6:155458563G>A	ENST00000461783.3	+	7	2720	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.A483T|TIAM2_ENST00000318981.5_Missense_Mutation_p.A483T|TIAM2_ENST00000529824.2_Missense_Mutation_p.A483T|TIAM2_ENST00000456144.1_Missense_Mutation_p.A483T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	483					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGAAACCGCCGAGTCCAG	0.527000													44	56					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137654926	137654926	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:137654926C>T	ENST00000323760.6	-	7	875	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CDC25C_ENST00000513970.1_Silent_p.L199L|CDC25C_ENST00000356505.3_Silent_p.L169L|CDC25C_ENST00000514555.1_Silent_p.L169L|CDC25C_ENST00000415130.2_Silent_p.L126L|CDC25C_ENST00000357274.3_Silent_p.L156L|CDC25C_ENST00000348983.3_Silent_p.L126L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	199					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTGATCTTTCAGGGAAAACT	0.353000													6	18					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131293969	131293969	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:131293969G>A	ENST00000512055.1	-	14	2999	c.873C>T	c.(871-873)caC>caT	p.H291H	CPNE4_ENST00000511604.1_Silent_p.H291H|CPNE4_ENST00000429747.1_Silent_p.H291H|CPNE4_ENST00000512332.1_Silent_p.H309H|CPNE4_ENST00000502818.1_Silent_p.H309H			Q96A23	CPNE4_HUMAN	copine IV	291										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATGCATCTTGTGAATCTGCA	0.403000													17	31					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50305670	50305670	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr20:50305670G>A	ENST00000338821.5	-	9	996	c.732C>T	c.(730-732)agC>agT	p.S244S	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	244					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCGGGGGGTCGCTGTCTTCCT	0.562000													37	56					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46525070	46525070	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr2:46525070A>G	ENST00000263734.3	+	1	530	c.20A>G	c.(19-21)aAg>aGg	p.K7R	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	7					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACAAGGAGAAGAAAAGGTAA	0.692000													7	14					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004424	42004424	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr7:42004424C>A	ENST00000395925.3	-	15	4331	c.4247G>T	c.(4246-4248)tGc>tTc	p.C1416F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1416					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTCACCCTGCAGGTCTGACT	0.562000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				34	48					6.05902e-23	7.51849e-23	1	1	0
FAM74A3	728495	broad.mit.edu	37	9	40715973	40715973	+	RNA	SNP	C	C	G			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr9:40715973C>G	ENST00000604146.1	+	0	312					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGGATGTCCCAAACAAGA	0.567000													8	9					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194336316	194336316	+	Silent	SNP	T	T	C			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:194336316T>C	ENST00000392432.2	-	8	1240	c.1035A>G	c.(1033-1035)aaA>aaG	p.K345K	TMEM44_ENST00000347147.4_Silent_p.K298K|TMEM44_ENST00000273580.7_Silent_p.K298K|TMEM44_ENST00000473092.1_Silent_p.K298K|TMEM44_ENST00000381975.3_Silent_p.K298K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	345						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TTTCTTCCTCTTTCTCTGCAC	0.512000													26	142					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304728	102304728	+	RNA	SNP	G	G	C	rs7169413		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr15:102304728G>C	ENST00000561463.1	+	0	12774																											GCGTGGGAACGAGAAGACACT	0.617000													3	18					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804517	22804517	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr21:22804517G>A	ENST00000400546.1	+	12	1819	c.1570G>A	c.(1570-1572)Ggt>Agt	p.G524S	NCAM2_ENST00000284894.7_Missense_Mutation_p.G382S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	524	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTCCCATGGAGGTGTACCTAT	0.468000													12	15					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31288342	31288342	+	Silent	SNP	G	G	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr16:31288342G>A	ENST00000544665.3	+	11	1256	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	ITGAM_ENST00000287497.8_Silent_p.V395V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	395					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGACCAGAGTGGATTCAGACA	0.473000													4	13					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008897	46008897	+	Silent	SNP	C	C	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr3:46008897C>T	ENST00000296137.2	-	8	2134	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	FYCO1_ENST00000535325.1_Silent_p.Q643Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	643					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGTAATCGGCCTGCAGGGCTT	0.637000													25	19					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29737716	29737716	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr22:29737716A>T	ENST00000357586.2	-	13	1756	c.1570T>A	c.(1570-1572)Tac>Aac	p.Y524N	AP1B1_ENST00000432560.2_Missense_Mutation_p.Y524N|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y524N|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y524N|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y524N|AP1B1_ENST00000317368.7_Missense_Mutation_p.Y524N|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y524N	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	524					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGTAGATGTAGCCACGGTCC	0.597000													9	56					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799378	31799378	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:31799378C>A	ENST00000438447.1	+	2	411	c.23C>A	c.(22-24)gCc>gAc	p.A8D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A8D			O15018	PDZD2_HUMAN	PDZ domain containing 2	8					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGGACAATGCCGTGCTGCAC	0.662000													5	56					0.184627	0.18572	1	1	0
TIMM17A	10440	broad.mit.edu	37	1	201926456	201926456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr1:201926456delC	ENST00000367287.4	+	2	110	c.74delC	c.(73-75)accfs	p.T25fs		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	25					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						ACGATGGGTACCATTGGTGGT	0.418													21	26	---	---	---	---					
ZFYVE16	9765	broad.mit.edu	37	5	79732657	79732658	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr5:79732657_79732658delGC	ENST00000338008.5	+	3	333_334	c.153_154delGC	c.(151-156)cagcgafs	p.R52fs	ZFYVE16_ENST00000510158.1_Frame_Shift_Del_p.R52fs|ZFYVE16_ENST00000505560.1_Frame_Shift_Del_p.R52fs	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	52					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTTCCTCACAGCGAACTTCATT	0.391													29	12	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971091	21971092	+	Frame_Shift_Ins	INS	-	-	C	rs137854599		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr9:21971091_21971092insC	ENST00000579755.1	-	2	601_602	c.309_310insG	c.(307-312)gggcttfs	p.L104fs	CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G38fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.G89fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G38fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.G89fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G89fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G89fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.L145fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G38fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.L104fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G38fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G38fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			Missing.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGTCCAGGAAGCCCTCCCGGGC	0.757		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	7	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35735158	35735160	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr9:35735158_35735160delCTG	ENST00000353704.2	+	5	926_928	c.488_490delCTG	c.(487-492)tctgct>tct	p.A164del	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	188					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		AATAAAAGATCTGCTCAAGAGAG	0.424													11	14	---	---	---	---					
SIRT1	23411	broad.mit.edu	37	10	69644881	69644883	+	In_Frame_Del	DEL	GGC	GGC	-	rs36062014		TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr10:69644881_69644883delGGC	ENST00000212015.6	+	1	455_457	c.402_404delGGC	c.(400-405)gaggcg>gag	p.A139del		NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	139	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						aggaggaagaggcggcggcggcg	0.700													2	4	---	---	---	---					
PABPN1	8106	broad.mit.edu	37	14	23791449	23791450	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chr14:23791449_23791450delGG	ENST00000397276.2	+	2	424_425	c.411_412delGG	c.(409-414)aaggagfs	p.E138fs	BCL2L2-PABPN1_ENST00000557008.1_Frame_Shift_Del_p.E165fs|BCL2L2-PABPN1_ENST00000553781.1_Frame_Shift_Del_p.E165fs|PABPN1_ENST00000557702.1_Frame_Shift_Del_p.E10fs|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.E138fs|PABPN1_ENST00000556821.1_Frame_Shift_Del_p.E10fs|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.S12fs					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAAGCTAAAGGAGCTACAGAA	0.525													8	6	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44942711	44942712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A5BV-01A-11D-A26M-08	TCGA-FD-A5BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f28c46e-e091-4701-bf63-bbb16aa03f4d	775e5e97-baa6-4dc9-b3b2-dd99a6d05ced	g.chrX:44942711_44942712insT	ENST00000377967.4	+	23	3332_3333	c.3291_3292insT	c.(3292-3294)ttgfs	p.L1098fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.L1105fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.L1053fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.L1019fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1098	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGGTGGAAGTTGCAGCTACA	0.401			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								13	14	---	---	---	---