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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TBC1D5	9779	broad.mit.edu	37	3	17415993	17415993	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:17415993C>T	uc010hev.3	-	12	1056	c.792G>A	c.(790-792)tgG>tgA	p.W264*	TBC1D5_uc003cbf.3_Nonsense_Mutation_p.W264*|TBC1D5_uc003cbe.3_Nonsense_Mutation_p.W264*|TBC1D5_uc010hew.1_Nonsense_Mutation_p.W216*	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	264	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAGTTGAAAACCAAGGTTCAG	0.299000														153			4		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117896	96117896	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:96117896T>C	uc001pfx.4	-	3	230	c.16A>G	c.(16-18)Aga>Gga	p.R6G	CCDC82_uc009ywp.3_Missense_Mutation_p.R6G|CCDC82_uc009ywr.3_Missense_Mutation_p.R6G|CCDC82_uc009yws.3_Missense_Mutation_p.R6G	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	6							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTTCATGTCTTCTAACATGT	0.333000														74			4		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37888769	37888769	+	Silent	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:37888769C>T	uc003asx.1	-	16	2534	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Silent_p.P157P|CARD10_uc003asw.1_Silent_p.P553P|CARD10_uc003asy.1_Silent_p.P839P	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	839					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ACACCAGTAGCGGCCGCACCA	0.662000														97			51		0	0	1	0	0
NACAD	23148	broad.mit.edu	37	7	45123137	45123137	+	Missense_Mutation	SNP	G	A	A	rs111636724		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:45123137G>A	uc003tmt.3	-	1	2642	c.2642C>T	c.(2641-2643)gCt>gTt	p.A881V		NM_001146334	NP_001139806	O15069	NACAD_HUMAN	Homo sapiens NAC alpha domain containing (NACAD), mRNA.	881					protein transport	cytoplasm|nucleus				breast(1)|endometrium(2)|skin(2)	5						CGGTGTCATAGCGGAGTCCTG	0.622000														17			3		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39839775	39839775	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:39839775C>G	uc003guv.4	-	31	4251	c.3711G>C	c.(3709-3711)aaG>aaC	p.K1237N		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1237					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGTTCTTTTCTTTCCTCGGT	0.413000														55			4		0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96861118	96861118	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:96861118G>A	uc002svm.4	-	1	861	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	154	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATTGGGCGCCGCCACAGCTTA	0.498000														67			3		0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9954094	9954094	+	Silent	SNP	T	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr18:9954094T>A	uc002kok.3	+	5	935	c.636T>A	c.(634-636)ccT>ccA	p.P212P	VAPA_uc002koj.3_Silent_p.P257P	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA.	212					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						CGGATAAACCTGGATCAACCT	0.388000														103			70		0	0	1	0	0
THAP8	199745	broad.mit.edu	37	19	36526406	36526406	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:36526406T>G	uc002oda.1	-	3	1306	c.761A>C	c.(760-762)gAc>gCc	p.D254A	BC071809_uc002ocy.3_Intron|CLIP3_uc010eeq.2_5'Flank|CLIP3_uc002ocz.2_5'Flank|THAP8_uc010xtb.1_Missense_Mutation_p.D211A|THAP8_uc010xtc.1_Non-coding_Transcript	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	Homo sapiens THAP domain containing 8 (THAP8), mRNA.	254							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGCAGGGTCCTGGGCAAG	0.552000														98			9		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113229	42113229	+	Missense_Mutation	SNP	A	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:42113229A>C	uc001zok.4	+	23	2985	c.2699A>C	c.(2698-2700)cAt>cCt	p.H900P	MAPKBP1_uc010bci.3_Missense_Mutation_p.H894P|MAPKBP1_uc010udb.2_Missense_Mutation_p.H733P|MAPKBP1_uc001zoj.4_Missense_Mutation_p.H894P|MAPKBP1_uc010bcj.3_Missense_Mutation_p.H401P|MAPKBP1_uc010bck.3_Missense_Mutation_p.H111P|MAPKBP1_uc010bcl.3_Missense_Mutation_p.H401P	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	900										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCAGGAAGCATGGGCAGGAG	0.602000														70			43		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045495	7045495	+	Silent	SNP	A	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7045495A>C	uc001qrw.1	+	4	1302	c.1065A>C	c.(1063-1065)tcA>tcC	p.S355S	ATN1_uc001qrx.1_Silent_p.S355S|ATN1_uc001qry.1_Silent_p.S354S	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	355					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGCTCCTTCACCCCACTCTC	0.597000														45			34		0	0	1	0	0
NBPF4	148545	broad.mit.edu	37	1	108769307	108769307	+	Silent	SNP	G	A	A	rs143756753	by1000genomes	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:108769307G>A	uc009weo.2	-	13	2087	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	NBPF4_uc001dvo.2_Non-coding_Transcript	NM_001143989	NP_001137461	Q96M43	NBPF4_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 4 (NBPF4), mRNA.	0						cytoplasm		p.S623S(4)		endometrium(2)|lung(1)|skin(1)	4						TTACCTCTGCGCTCTCAGCAT	0.493000														9			6		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328810	38328810	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:38328810C>T	uc003aui.3	+	11	2424	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	717						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGAGGGCCGTGAGGATGA	0.637000														64			4		0	0	1	0	0
ZNF35	7584	broad.mit.edu	37	3	44700856	44700856	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:44700856A>G	uc003cnq.3	+	3	1222	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ZNF35_uc003cnr.3_Missense_Mutation_p.Y174C	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	334					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GAAAAATGCTATGAATGTAAT	0.423000														75			3		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	31977381	31977381	+	RNA	SNP	T	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:31977381T>C	uc021yvf.1	-	9		c.2338A>G						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCTGTCTGTCCATCCATGC	0.622000														143			4		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117769	117769	+	RNA	SNP	C	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrGL000205.1:117769C>A	uc002kgk.4	+	0		c.1147C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGTTGCAGTTCGAGCCAAGGC	0.587000														22			4		0.00909568	0.00909568	1	1	0
ANK2	287	broad.mit.edu	37	4	114290874	114290874	+	Silent	SNP	G	A	A	rs143290935		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:114290874G>A	uc003ibe.4	+	42	11623	c.11523G>A	c.(11521-11523)ccG>ccA	p.P3841P	ANK2_uc003ibd.4_Silent_p.P1747P|ANK2_uc003ibf.4_Silent_p.P1756P|ANK2_uc011cgc.2_Silent_p.P932P|ANK2_uc003ibg.4_Silent_p.P740P|ANK2_uc003ibh.4_Silent_p.P430P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3808					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)		AGAGCTCTCCGCGGAAAACCA	0.532000														75			5		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75152734	75152734	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:75152734G>A	uc001owo.4	-	13	1819	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	GDPD5_uc001owp.4_Missense_Mutation_p.R428W|GDPD5_uc001own.4_Missense_Mutation_p.R183W|GDPD5_uc009yuc.3_Missense_Mutation_p.R290W|GDPD5_uc009yud.3_Missense_Mutation_p.R309W	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	428	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGTTCAGCCGCTGGATGTGG	0.667000														44			36		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647558	158647558	+	Silent	SNP	G	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158647558G>T	uc001fst.1	-	6	1078	c.879C>A	c.(877-879)ggC>ggA	p.G293G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	293					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)					CAAGGTCTTTGCCATAGTCCT	0.468000														81			5		3.59834e-05	3.82323e-05	1	1	0
ADRA1A	148	broad.mit.edu	37	8	26722373	26722373	+	Silent	SNP	A	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:26722373A>C	uc003xfc.1	-	0	550	c.114T>G	c.(112-114)ctT>ctG	p.L38L	ADRA1A_uc010lul.1_Silent_p.L38L|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Silent_p.L38L|ADRA1A_uc010lum.1_Silent_p.L38L|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Silent_p.L38L|ADRA1A_uc003xfh.1_Silent_p.L38L|ADRA1A_uc022atd.1_Silent_p.L38L	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	38					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GCACCCCGAAAAGAATGAGGC	0.592000														73			3		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911469	88911469	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:88911469A>G	uc001kei.4	+	2	472	c.358A>G	c.(358-360)Atg>Gtg	p.M120V		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	120										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TAGCTCTAATATGCAAATATG	0.348000														174			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639167	179639167	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:179639167T>C	uc021vsy.1	-	29	7049	c.6824A>G	c.(6823-6825)gAc>gGc	p.D2275G	TTN_uc021vsz.1_Missense_Mutation_p.D2229G|TTN_uc021vta.1_Missense_Mutation_p.D2229G|TTN_uc021vtb.1_Missense_Mutation_p.D2229G|TTN_uc002unb.2_Missense_Mutation_p.D2275G|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2275	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2274C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCTATGTCCTGAAGTTC	0.353000														84			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18042900	18042900	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:18042900A>G	uc021trm.1	+	17	5405	c.5186A>G	c.(5185-5187)gAc>gGc	p.D1729G	MYO15A_uc021trl.1_Missense_Mutation_p.D1727G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1729	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATGTGCTGGACCTGTTCGTA	0.632000														24			3		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727413	73727413	+	Silent	SNP	G	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:73727413G>T	uc002jpg.3	+	9	1366	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	ITGB4_uc002jph.3_Silent_p.T393T|ITGB4_uc010dgo.3_Silent_p.T393T|ITGB4_uc002jpi.4_Silent_p.T393T|ITGB4_uc010dgp.1_Silent_p.T393T|ITGB4_uc002jpj.3_Silent_p.T393T|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	393					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGAAGACGAGGACTGGGT	0.642000														2			34		4.65686e-17	5.27778e-17	1	1	0
ABCB7	22	broad.mit.edu	37	X	74273332	74273332	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:74273332C>T	uc004ebz.3	-	15	2160	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H	ABCB7_uc010nlt.3_Missense_Mutation_p.R671H|ABCB7_uc004eca.3_Missense_Mutation_p.R711H|ABCB7_uc011mqn.2_Missense_Mutation_p.R685H|ABCB7_uc010nls.3_Missense_Mutation_p.R672H	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	711					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GTTCTGCACACGGCTGCTCTG	0.408000														66			3		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149901024	149901024	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:149901024G>T	uc004feh.1	+	9	1037	c.902G>T	c.(901-903)tGg>tTg	p.W301L	MTMR1_uc011mya.1_Missense_Mutation_p.W199L|MTMR1_uc004feg.1_Missense_Mutation_p.W293L|MTMR1_uc004fei.3_Missense_Mutation_p.W293L|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	293	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity	p.T301M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGTCATGGATTCATCCG	0.408000														129			4		0.00024832	0.000255845	1	1	0
RAF1	5894	broad.mit.edu	37	3	12660138	12660138	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:12660138A>G	uc003bxf.4	-	1	498	c.83T>C	c.(82-84)aTc>aCc	p.I28T	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	28					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGTAGGAGAGATGCAGCTGGA	0.463000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					166			4		0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74366496	74366496	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:74366496T>C	uc002fcr.2	-	13	2218	c.872A>G	c.(871-873)gAg>gGg	p.E291G	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		GAATCCTGGCTCTCCTGTGTG	0.627000														196			5		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13372388	13372388	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:13372388C>T	uc002mwy.3	-	25	4362	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_uc002mwx.3_Missense_Mutation_p.V82I|CACNA1A_uc010dzc.2_Missense_Mutation_p.V902I|CACNA1A_uc010xnd.2_Missense_Mutation_p.V1379I|CACNA1A_uc021ups.1_Missense_Mutation_p.V1376I|CACNA1A_uc010xne.2_Missense_Mutation_p.V1379I|CACNA1A_uc010dze.2_Missense_Mutation_p.V1376I|CACNA1A_uc021upt.1_Missense_Mutation_p.V1377I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1377					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGTTGAAGACGTTTTTAAGT	0.522000														107			3		0	0	1	0	0
NACAD	23148	broad.mit.edu	37	7	45123098	45123098	+	Missense_Mutation	SNP	G	A	A	rs112917247		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:45123098G>A	uc003tmt.3	-	1	2681	c.2681C>T	c.(2680-2682)tCg>tTg	p.S894L		NM_001146334	NP_001139806	O15069	NACAD_HUMAN	Homo sapiens NAC alpha domain containing (NACAD), mRNA.	894					protein transport	cytoplasm|nucleus				breast(1)|endometrium(2)|skin(2)	5						TGGGGCTGACGAGAGATCTGT	0.632000														39			3		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595778	3595778	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:3595778C>A	uc002lyg.2	-	2	1327	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TBXA2R_uc021umv.1_Missense_Mutation_p.A314S	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	314					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGAGCACGGCGCGGCGGAAC	0.677000														83			9		1.11149e-13	1.21905e-13	1	1	0
ALDOA	226	broad.mit.edu	37	16	30079974	30079974	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:30079974A>G	uc010veg.2	+	4	762	c.494A>G	c.(493-495)aAg>aGg	p.K165R	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Missense_Mutation_p.K111R|ALDOA_uc002dvw.3_Missense_Mutation_p.K111R|ALDOA_uc002dvz.3_Missense_Mutation_p.K111R|ALDOA_uc002dwa.4_Missense_Mutation_p.K111R|ALDOA_uc002dwc.3_Missense_Mutation_p.K111R	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	111					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGGTAGACAAGGGCGTGGTC	0.547000														159			4		0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183901	61183901	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:61183901C>T	uc001nrq.3	-	5	775	c.641G>A	c.(640-642)cGt>cAt	p.R214H	CPSF7_uc001nrp.3_Missense_Mutation_p.R257H|CPSF7_uc001nrr.3_Missense_Mutation_p.R205H|CPSF7_uc001nrs.1_Missense_Mutation_p.R115H	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	214					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding	p.R214C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTTATCCACACGAGCAGATGA	0.582000														47			29		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160044894	160044894	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:160044894G>A	uc003lym.1	-	15	3350	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	ATP10B_uc010jit.1_Missense_Mutation_p.R152C|ATP10B_uc003lyn.3_Missense_Mutation_p.R393C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	835					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGTGTGCGCAGGCCATCT	0.423000														21			58		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980349	110980349	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:110980349T>C	uc003ynr.4	-	2	2275	c.1471A>G	c.(1471-1473)Agg>Ggg	p.R491G	KCNV1_uc010mcw.3_Missense_Mutation_p.R491G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	491						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCGCTGCTCCTAGTACTTGCT	0.378000														154			4		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25647566	25647570	+	Frame_Shift_Del	DEL	GAGAA	-	-			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647566_25647570delGAGAA	uc003cdj.2	-	31	4370_4374	c.4327_4331delTTCTC	c.(4327-4332)ttctcafs	p.F1443fs	TOP2B_uc011awm.1_Frame_Shift_Del_p.F300fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1448					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGAAGGAAATGAGAAGAGATTTCCA	0.298													---	79	---	---	59	---					
