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
VN1R2	317701	broad.mit.edu	37	19	53762190	53762190	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr19:53762190G>A	uc002qbi.2	+	0	646	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	188					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTCTTCCAGGTGATCACCAT	0.473000													5	23					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349448	4349448	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:4349448C>T	uc002fxt.3	+	3	552	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	SPNS3_uc002fxu.3_Missense_Mutation_p.R43C	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	170					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGGGACCAGCGCACCCGCGT	0.617000													4	63					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217479	7217479	+	Splice_Site	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:7217479C>T	uc002gfx.1	-	5	710	c.318_splice	c.e5-1	p.S106_splice	GPS2_uc002gfw.1_Splice_Site_p.S68_splice|GPS2_uc002gfy.1_Splice_Site|GPS2_uc002gfz.1_Splice_Site_p.S106_splice	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	106					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTCAGGTCACTGGAGTGAAA	0.493000													6	42					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766817	77766817	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:77766817A>T	uc003yau.2	+	9	8047	c.7660A>T	c.(7660-7662)Agt>Tgt	p.S2554C	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2509C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2509						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)			ACTGCTGGGCAGTTCCCTCAC	0.512000										HNSCC(33;0.089)			20	61					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58959580	58959580	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:58959580A>G	uc001nns.2	+	5	1488	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V	DTX4_uc001nnr.2_Missense_Mutation_p.I305V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	411					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGACTGCACCATCTGTATGGA	0.582000													7	49					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74345121	74345121	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr9:74345121C>T	uc011lsa.1	-	8	2362	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	TMEM2_uc010mos.2_Missense_Mutation_p.E545K|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	608						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATACCATCTTCCAAAAAGAAA	0.403000													4	37					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376383	50376383	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:50376383A>G	uc004dpe.2	-	3	2716	c.2690T>C	c.(2689-2691)gTc>gCc	p.V897A	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V781A	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	897	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGATCATGGACTAGAGCTCC	0.453000													10	8					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654876	160654876	+	Silent	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:160654876G>A	uc001fwo.1	-	1	218	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CD48_uc001fwn.3_Silent_p.F62F|CD48_uc001fwp.3_Silent_p.F62F	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCTGGTCGAAAGTATAAA	0.443000													7	63					0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	A	C			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000													3	77					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6215669	6215669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:6215669G>A	uc001amb.2	-	3	607	c.496C>T	c.(496-498)Cag>Tag	p.Q166*		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	166					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGAGGAACTGGCTGAAGGCC	0.642000													8	49					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	G	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000													8	69					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798295	212798295	+	RNA	SNP	G	G	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:212798295G>T	uc010pth.1	-	1		c.1556C>A			FAM71A_uc001hjk.3_Missense_Mutation_p.G26W			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCACCATGGGGAAACTGCA	0.483000													6	36					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592387	38592387	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:38592387G>A	uc021wvo.1	-	26	5528	c.5476C>T	c.(5476-5478)Cgt>Tgt	p.R1826C	SCN5A_uc021wvk.1_Missense_Mutation_p.R1793C|SCN5A_uc021wvl.1_Missense_Mutation_p.R1772C|SCN5A_uc021wvm.1_Missense_Mutation_p.R1808C|SCN5A_uc021wvn.1_Missense_Mutation_p.R1825C|SCN5A_uc021wvp.1_Missense_Mutation_p.R1826C|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1638C|SCN5A_uc021wvi.1_Missense_Mutation_p.R1692C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1826			R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGGCGATACGGAGTGGCTCA	0.507000													4	60					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139938336	139938336	+	Missense_Mutation	SNP	C	C	T	rs138766975		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:139938336C>T	uc021yeh.1	-	12	1654	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.R209H|APBB3_uc003lgc.1_Missense_Mutation_p.R209H|APBB3_uc003lgd.1_Missense_Mutation_p.R437H|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.R209H|APBB3_uc003lge.1_Missense_Mutation_p.R430H|APBB3_uc021yeg.1_Missense_Mutation_p.R439H|APBB3_uc003lgf.1_Non-coding_Transcript	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	432	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCAGGCGGGCACGGGC	0.662000													4	63					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	716868	716868	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:716868C>G	uc003siu.2	-	3	571	c.438G>C	c.(436-438)agG>agC	p.R146S	PRKAR1B_uc021zyi.1_Missense_Mutation_p.R146S|PRKAR1B_uc003siv.3_Missense_Mutation_p.R146S|PRKAR1B_uc021zyj.1_Missense_Mutation_p.R146S|PRKAR1B_uc021zyk.1_Missense_Mutation_p.R146S|PRKAR1B_uc003siw.2_Missense_Mutation_p.R146S	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	146					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGCCTACCTCCTCTCGTTGT	0.642000													13	106					0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24702732	24702732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr14:24702732C>A	uc001wnr.3	+	2	517	c.135C>A	c.(133-135)taC>taA	p.Y45*	NEDD8-MDP1_uc021rrm.1_5'Flank|NEDD8-MDP1_uc001wno.2_5'Flank|NEDD8-MDP1_uc001wnn.2_5'Flank|NEDD8-MDP1_uc001wnp.2_5'Flank|GMPR2_uc001wnq.1_Nonsense_Mutation_p.Y45*|GMPR2_uc001wnu.2_5'UTR|GMPR2_uc001wns.3_Nonsense_Mutation_p.Y45*|GMPR2_uc001wnv.3_5'UTR|GMPR2_uc010alk.1_Nonsense_Mutation_p.Y45*|GMPR2_uc001wnw.3_Nonsense_Mutation_p.Y45*|GMPR2_uc001wnx.3_Nonsense_Mutation_p.Y63*|GMPR2_uc010all.3_Nonsense_Mutation_p.Y45*|GMPR2_uc010toe.1_Nonsense_Mutation_p.Y45*	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	45					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCAGACATACTCTGGGGTTC	0.448000													14	50					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062535	107062535	+	RNA	SNP	C	C	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr14:107062535C>G	uc021ser.1	-	149		c.6534G>C								Parts of antibodies, mostly variable regions.																		CTGCCACCAGCAGGAGGAAGA	0.512000													4	22					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151055000	151055000	+	Silent	SNP	G	G	A	rs145506185	byFrequency	TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:151055000G>A	uc011eem.1	+	1	448	c.360G>A	c.(358-360)ccG>ccA	p.P120P	PLEKHG1_uc011eel.1_Silent_p.P101P|PLEKHG1_uc003qny.1_Silent_p.P61P|PLEKHG1_uc003qnz.2_Silent_p.P61P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	61	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGCCAGGCCGTTTTCCAGCA	0.572000													13	50					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72973925	72973925	+	Silent	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:72973925C>T	uc003xza.3	-	6	1054	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	293						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATAGGACGATATCATCA	0.423000													9	58					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:100350361T>C	uc003uwj.3	+	13	2798	c.2633T>C	c.(2632-2634)cTc>cCc	p.L878P	ZAN_uc003uwk.3_Missense_Mutation_p.L878P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	878	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													4	97					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25502755	25502755	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:25502755G>A	uc011awl.2	+	1	316	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	RARB_uc003cdi.2_5'UTR|RARB_uc003cdh.3_Missense_Mutation_p.V77M	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	84	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V83I(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCCCCTCGAGTGTACAAACC	0.527000													6	61					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26622268	26622268	+	Silent	SNP	T	T	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:26622268T>A	uc003gsf.4	+	3	522	c.252T>A	c.(250-252)ccT>ccA	p.P84P	TBC1D19_uc010iew.3_Silent_p.P84P|TBC1D19_uc011bxu.2_Intron	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	84						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGCACCTCCTGAACATCTTA	0.368000													6	56					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359822	180359822	+	Silent	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:180359822C>T	uc010hxe.3	-	12	1948	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	611					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATTTGTGACGCAAGCATTG	0.348000													6	63					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891858	132891858	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:132891858C>T	uc011eck.2	+	0	398	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	133						plasma membrane	G-protein coupled receptor activity	p.A133A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGTACATTGCGGTTACTGAC	0.488000													94	209					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:45390445A>G	uc011dvx.2	+	2	384	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_uc011dvy.2_Silent_p.Q58Q|RUNX2_uc003oxt.3_Silent_p.Q44Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													3	58					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49136843	49136843	+	Silent	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49136843G>A	uc003cvx.3	-	16	1553	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Silent_p.L371L|QARS_uc003cvy.3_Silent_p.L371L|QARS_uc011bce.2_Silent_p.L505L	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	516					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAGTGTAAAGAGCCGTGGGT	0.567000													9	73					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26142184	26142184	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:26142184G>A	uc021ojk.1	+	12	1803	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	SEPN1_uc021ojl.1_Missense_Mutation_p.R549H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	583						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTCCGGCGTGGCCTGCCC	0.607000													4	133					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43885064	43885064	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr9:43885064G>A	uc004ada.2	+	14	2767	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	786	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTCTGCCGCGGAGATAGT	0.438000													3	17					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642776	77642776	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr13:77642776T>A	uc021rks.1	-	69	12362	c.12095A>T	c.(12094-12096)tAt>tTt	p.Y4032F	MYCBP2_uc010aev.3_Missense_Mutation_p.Y3398F|MYCBP2_uc001vke.3_Missense_Mutation_p.Y611F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGCCAGATATTGCCGGCC	0.498000													7	31					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56768605	56768605	+	Silent	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:56768605A>G	uc003hbe.1	+	17	2591	c.2433A>G	c.(2431-2433)aaA>aaG	p.K811K	EXOC1_uc003hbf.1_Silent_p.K811K|EXOC1_uc003hbg.1_Silent_p.K796K	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	811					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AACTTCGTAAAGTCATTAAGG	0.388000													4	59					0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073188	76073188	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:76073188C>T	uc010umm.1	+	5	477	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CCATACTAAACGTGCTGCCCG	0.507000													7	110					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126425	62126425	+	Silent	SNP	C	C	T	rs143957818		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr20:62126425C>T	uc002yfe.1	-	3	520	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	118						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.A117E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCCCACGCCCGCCGCCACGA	0.711000													18	117					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138033555	138033555	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr2:138033555C>T	uc002tva.1	+	10	2366	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T679M	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGAATAACGGGCAGCAGT	0.403000													10	31					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40744	40744	+	Silent	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrGL000218.1:40744G>A	uc011mfn.2	-	2	275	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LOC100233156_uc003jah.2_Silent_p.S62S					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CCAGGTCCTCGGAGGTGTCGC	0.647000													4	24					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98995217	98995217	+	Silent	SNP	G	G	A	rs61734134		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:98995217G>A	uc002buk.1	-	4	457	c.207C>T	c.(205-207)acC>acT	p.T69T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	69										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGCATGCACCGGTGCCATCAC	0.587000													3	35					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406714	148406714	+	Missense_Mutation	SNP	G	G	A	rs147490172		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:148406714G>A	uc003lpu.3	-	10	2733	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.R505W|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.R408W|SH3TC2_uc010jgx.3_Missense_Mutation_p.R854W|SH3TC2_uc003lpv.1_Missense_Mutation_p.R408W|SH3TC2_uc011dbz.1_Missense_Mutation_p.R746W	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	861							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGGCCCGAAGATAGCTC	0.567000													5	227					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71512203	71512203	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:71512203T>C	uc010cgc.1	-	4	708	c.202A>G	c.(202-204)Aga>Gga	p.R68G	ZNF23_uc002fai.3_5'UTR|ZNF19_uc002fak.1_Missense_Mutation_p.R56G|ZNF19_uc002fal.1_Missense_Mutation_p.R56G|ZNF19_uc002fam.1_Missense_Mutation_p.R68G	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	68	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ATGTCCCCTCTCTCCAAAAGT	0.488000													7	20					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584460	1584460	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:1584460G>A	uc022brv.1	-	0	992	c.992C>T	c.(991-993)aCg>aTg	p.T331M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701000			T	CRLF2	"""B-ALL, Downs associated ALL"""								9	113					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433550	55433550	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:55433550G>T	uc010rik.2	+	0	908	c.908G>T	c.(907-909)tGg>tTg	p.W303L		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGATGAAATGGGAGGCTTTG	0.418000													5	41					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725911	87725911	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:87725911C>T	uc003pli.3	+	1	1562	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	HTR1E_uc021zcg.1_Missense_Mutation_p.R287W	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	287					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R287Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACCAGGGAACGGAAGGCAGC	0.502000													12	149					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31508234	31508234	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:31508234G>A	uc002eci.2	-	5	650	c.638C>T	c.(637-639)gCc>gTc	p.A213V	C16orf58_uc010vfq.1_Missense_Mutation_p.A71V	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	213						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CACGGTCAGGGCAGCCCGAGT	0.632000													6	6					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691395	49691395	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49691395C>A	uc003cxe.4	+	4	4520	c.4406C>A	c.(4405-4407)gCa>gAa	p.A1469E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1469					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTCCCGGGCATATTCCTAC	0.632000													4	95					0	0	1	0	0
SCD	6319	broad.mit.edu	37	10	102112212	102112212	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:102112212C>G	uc001kqy.3	+	2	890	c.400C>G	c.(400-402)Cta>Gta	p.L134V		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	134					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCGGCTGCCCCTACGGCTCTT	0.517000													21	173					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69103089	69103089	+	Splice_Site	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr12:69103089G>A	uc001suf.3	+	9	916	c.801_splice	c.e9+1	p.Q267_splice	NUP107_uc001sug.3_Splice_Site_p.Q114_splice|NUP107_uc010stj.2_Splice_Site_p.Q238_splice	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	267					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACAAAGTCAGGTATGACTAG	0.299000													6	59					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46238880	46238880	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:46238880A>G	uc001jcu.3	+	5	689	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FAM21C_uc001jcs.2_Missense_Mutation_p.K136E|FAM21C_uc010qfk.2_Missense_Mutation_p.K191E|FAM21C_uc010qfi.2_Missense_Mutation_p.K191E	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	191										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATTGGGTCAAAGCTGTTCAT	0.348000													11	87					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1030952	1030952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:1030952delG	uc001lsw.2	-	5	730	c.679delC	c.(679-681)cagfs	p.Q227fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	227	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTACGTGCTGGGCCTGCCGG	0.667													2	4	---	---	---	---					
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	RNA	DEL	T	T	-			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:45848231delT	uc001zvn.1	+	3		c.985delT			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TTTGTTTAGCTTTTTTTTTTT	0.323													5	6	---	---	---	---					
