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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
PLXNA4	91584	broad.mit.edu	hg19	7	131910977	131910977	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:131910977G>A	ENST00000359827.3	-	8	2887	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I			Q9HCM2	PLXA4_HUMAN	plexin A4	642			integral to membrane|intracellular|plasma membrane		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45					GGTCATGCCGGTCTCCTTTGA	0.562	0	154.0	155.0	154.0	7	131910977	2026	4187	6213	SO:0001583	missense	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B		Standard	NM_181775	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1925C>T	7.37:g.131910977G>A	ENSP00000352882:p.Thr642Ile	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545095	0.65198	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01106	5.33;5.33	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	M	0.73962	2.25	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	T	0.05533	-1.0879	10	0.66056	D	0.02	.	18.9935	0.92803	0.0:0.0:1.0:0.0	.	642	Q9HCM2	PLXA4_HUMAN	I	642	ENSP00000323194:T642I;ENSP00000352882:T642I	ENSP00000323194:T642I	T	-	2	0	PLXNA4	131561517	1.000000	0.71417	0.981000	0.43875	0.099000	0.18886	9.786000	0.99046	2.675000	0.91044	0.591000	0.81541	ACC	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		203.707887	0	4	115	0	0	1	0	NM_181775	67	203.958256	80	0.455782
ILVBL	10994	broad.mit.edu	hg19	19	15230041	15230041	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:15230041G>T	ENST00000263383.3	-	9	1126	c.987C>A	c.(985-987)caC>caA	p.H329Q	ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329			integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26					TGTGGAGGGGGTGGTTGCGGC	0.642	0	63.0	60.0	61.0	19	15230041	2203	4300	6503	SO:0001583	missense	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135		6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770			8954801	Standard	NM_006844	Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.987C>A	19.37:g.15230041G>T	ENSP00000263383:p.His329Gln	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041387	0.55003	.	.	ENSG00000105135	ENST00000263383	T	0.54279	0.58	5.31	4.27	0.50696	Thiamine pyrophosphate enzyme, central domain (1);	0.230150	0.49305	D	0.000144	T	0.67050	0.2852	M	0.82193	2.58	0.39279	D	0.96453	P	0.37276	0.589	P	0.50896	0.653	T	0.73030	-0.4111	10	0.66056	D	0.02	-13.1706	10.9757	0.47465	0.0906:0.0:0.9094:0.0	.	329	A1L0T0	ILVBL_HUMAN	Q	329	ENSP00000263383:H329Q	ENSP00000263383:H329Q	H	-	3	2	ILVBL	15091041	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	1.600000	0.36762	2.484000	0.83849	0.561000	0.74099	CAC	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		-12.103562	1	13	107	0	0.0293803	1	0.0293803	NM_006844	5	9.375269	95	0.050000
FAM217A	222826	broad.mit.edu	hg19	6	4069806	4069806	+	Missense_Mutation	SNP	G	G	C	rs149448787	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr6:4069806G>C	ENST00000274673.3	-	7	1054	c.651C>G	c.(649-651)agC>agG	p.S217R	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	217											TTTTAAAATAGCTGAGTAAAG	0.343	0	99.0	104.0	102.0	6	4069806	2203	4300	6503	SO:0001583	missense	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975		21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146		Standard	NM_173563	Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.651C>G	6.37:g.4069806G>C	ENSP00000274673:p.Ser217Arg	Q5JYK1	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248645	0.39797	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.34275	1.37	5.43	4.49	0.54785	.	0.257887	0.38436	N	0.001683	T	0.33294	0.0858	M	0.75777	2.31	0.30307	N	0.788858	D	0.53462	0.96	P	0.50537	0.643	T	0.29305	-1.0016	10	0.87932	D	0	-6.389	8.229	0.31587	0.1072:0.0:0.8928:0.0	.	217	Q8IXS0	CF146_HUMAN	R	217;64;345	ENSP00000274673:S217R	ENSP00000274673:S217R	S	-	3	2	C6orf146	4014805	0.608000	0.26966	1.000000	0.80357	0.119000	0.20118	0.726000	0.25984	2.827000	0.97445	0.650000	0.86243	AGC	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2		80.600578	0	-8	102	0	0	1	0	NM_173563	27	82.468848	53	0.337500
KCNH5	27133	broad.mit.edu	hg19	14	63417240	63417240	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr14:63417240C>T	ENST00000322893.7	-	7	1248	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	327		regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	TCGTAAGAGACGCACCACTTT	0.448	1	60.0	61.0	60.0	14	63417240	2203	4300	6503	SO:0001583	missense	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716			9738473, 16382104	Standard	NM_139318	Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.980G>A	14.37:g.63417240C>T	ENSP00000321427:p.Arg327His	C9JP98	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266527	0.95399	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24	5.79	5.79	0.91817	Ion transport (1);	0.050743	0.85682	D	0.000000	D	0.99799	0.9914	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.997;0.995;0.999	D	0.97217	0.9875	10	0.87932	D	0	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	269;269;327;327	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	H	327;327;269;269	ENSP00000321427:R327H;ENSP00000395439:R327H;ENSP00000378419:R269H;ENSP00000378415:R269H	ENSP00000321427:R327H	R	-	2	0	KCNH5	62486993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.810000	0.86072	2.731000	0.93534	0.591000	0.81541	CGT	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		26.969662	0	-17	31	0	0	1	0	NM_139318	12	31.786877	47	0.203390
HTR3E	285242	broad.mit.edu	hg19	3	183819281	183819281	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr3:183819281G>T	ENST00000415389.2	+	3	709	c.243G>T	c.(241-243)caG>caT	p.Q81H	HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	81			integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		AGAATGAACAGCTGCACCTCT	0.418	0	223.0	214.0	217.0	3	183819281	2203	4300	6503	SO:0001583	missense	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038	"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""		12801637, 15157181	Standard	NM_001256613	Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.243G>T	3.37:g.183819281G>T	ENSP00000401444:p.Gln81His	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	ENST00000415389.2	37	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	8.096	0.775515	0.16051	.	.	ENSG00000186038	ENST00000415389;ENST00000335304;ENST00000431041	T;T;T	0.79033	-1.23;-1.23;-1.23	3.8	-1.51	0.08664	Neurotransmitter-gated ion-channel ligand-binding (3);	0.185501	0.34025	N	0.004327	T	0.71500	0.3347	M	0.82517	2.595	0.28030	N	0.93417	B;B	0.21225	0.053;0.007	B;B	0.18871	0.023;0.015	T	0.63005	-0.6733	10	0.62326	D	0.03	.	3.0518	0.06172	0.3796:0.0:0.3084:0.312	.	81;96	A5X5Y0;A5X5Y0-3	5HT3E_HUMAN;.	H	81;96;10	ENSP00000401444:Q81H;ENSP00000335511:Q96H;ENSP00000391254:Q10H	ENSP00000335511:Q96H	Q	+	3	2	HTR3E	185301975	0.562000	0.26586	0.061000	0.19648	0.730000	0.41778	0.502000	0.22594	-0.501000	0.06605	-0.136000	0.14681	CAG	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1		96.399957	1	-3	123	0	3.67414e-24	1	3.79266e-24	NM_182589	32	96.875081	45	0.415584
GRID1	2894	broad.mit.edu	hg19	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr10:87362425G>A	ENST00000327946.7	-	16	2720	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879			cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					CTGTTCATGCGCCGGTGGACC	0.577	0	45.0	38.0	40.0	10	87362425	2203	4300	6503	SO:0001583	missense	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659				Standard	NM_017551	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2635C>T	10.37:g.87362425G>A	ENSP00000330148:p.Arg879Cys	B3KXD5|B7Z7L0|Q8IXT3	ENST00000327946.7	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633451	0.87660	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.17691	2.51;2.26	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41511	0.1162	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.10497	-1.0627	10	0.87932	D	0	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	C	879;450	ENSP00000330148:R879C;ENSP00000444455:R450C	ENSP00000330148:R879C	R	-	1	0	GRID1	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		16.946799	0	-1	17	0	0	1	0	XM_043613	6	17.077932	9	0.400000
ASPM	259266	broad.mit.edu	hg19	1	197111536	197111536	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111536T>G	ENST00000367409.4	-	3	2102	c.1846A>C	c.(1846-1848)Aaa>Caa	p.K616Q	ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	616		mitosis	cytoplasm|nucleus	calmodulin binding	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165					TTTTTTGTTTTCTTAACAGCT	0.348	0	196.0	208.0	204.0	1	197111536	2203	4300	6503	SO:0001583	missense	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279		19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5	11078481	Standard	NM_018136	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1846A>C	1.37:g.197111536T>G	ENSP00000356379:p.Lys616Gln	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972515	0.34848	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.52	5.12	3.98	0.46160	.	0.426506	0.23171	N	0.051126	T	0.44808	0.1311	L	0.46157	1.445	0.09310	N	1	P;B	0.37015	0.578;0.327	B;B	0.31337	0.128;0.045	T	0.23976	-1.0173	10	0.23891	T	0.37	.	10.5922	0.45316	0.0:0.0:0.1619:0.8381	.	616;616	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	616	ENSP00000356379:K616Q;ENSP00000294732:K616Q	ENSP00000294732:K616Q	K	-	1	0	ASPM	195378159	0.014000	0.17966	0.002000	0.10522	0.021000	0.10359	1.418000	0.34782	1.052000	0.40392	0.523000	0.50628	AAA	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		270.278130	0	-2	185	0	0	1	0	NM_018136	81	270.300148	77	0.512658
OGFOD2	79676	broad.mit.edu	hg19	12	123461285	123461285	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:123461285G>A	ENST00000397389.2	+	4	833	c.94G>A	c.(94-96)Gca>Aca	p.A32T	ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.A92T|OGFOD2_ENST00000545317.1_5'UTR	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92				iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	CTACCACCCGGCACGGCCTGA	0.652	0	38.0	48.0	45.0	12	123461285	2191	4287	6478	SO:0001583	missense	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325		25823	protein-coding gene	gene with protein product					12477932	Standard	NM_024623	Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.274G>A	12.37:g.123461285G>A	ENSP00000228922:p.Ala92Thr	B3KT24|Q4KN13|Q6N023|Q9H8K6	ENST00000228922.7	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.944933	0.53079	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85955	-2.05;-2.05	5.67	2.69	0.31865	.	0.519558	0.22682	N	0.056940	D	0.84220	0.5424	L	0.54323	1.7	0.09310	N	1	D;B;P	0.60575	0.988;0.145;0.493	P;B;B	0.56343	0.796;0.053;0.124	T	0.73294	-0.4028	10	0.39692	T	0.17	-2.0736	2.9565	0.05878	0.0931:0.2688:0.3622:0.2759	.	73;92;32	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	T	32;92;165	ENSP00000380544:A32T;ENSP00000228922:A92T	ENSP00000228922:A92T	A	+	1	0	OGFOD2	122027238	0.012000	0.17670	0.001000	0.08648	0.001000	0.01503	1.997000	0.40786	0.715000	0.32103	-0.188000	0.12872	GCA	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1		0.997975	0	-27	18	0	0	1	0	NM_024623	3	6.826659	31	0.088235
STRIP2	57464	broad.mit.edu	hg19	7	129125472	129125472	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:129125472C>T	ENST00000249344.2	+	21	2347	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A		NM_020704.2	NP_065755.1			striatin interacting protein 2												CCTTGAGGGCCAACATTGAGG	0.502	0	98.0	89.0	92.0	7	129125472	2203	4300	6503	SO:0001819	synonymous_variant	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578		22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B	22782902, 22298706, 18782753	Standard	NM_020704	Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2307C>T	7.37:g.129125472C>T		Q8WUZ4	ENST00000249344.2	37	CCDS34752.1																																																																																			STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1		36.151427	0	-3	60	0	0	1	0	NM_001134336	16	43.259334	66	0.195122
RNF25	64320	broad.mit.edu	hg19	2	219529520	219529520	+	Missense_Mutation	SNP	C	C	G	rs147462219	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr2:219529520C>G	ENST00000295704.2	-	9	1183	c.743G>C	c.(742-744)cGg>cCg	p.R248P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	248		positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	GATTCCCCCCCGCTCCTGCTG	0.577	0	93.0	86.0	88.0	2	219529520	2203	4300	6503	SO:0001583	missense		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481	"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product					12748188	Standard	NM_022453	Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.743G>C	2.37:g.219529520C>G	ENSP00000295704:p.Arg248Pro	A8K0D6|Q53HQ5|Q9H874	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450842	0.43531	.	.	ENSG00000163481	ENST00000295704	T	0.50548	0.74	5.94	3.18	0.36537	.	0.393729	0.24134	N	0.041239	T	0.42921	0.1224	M	0.65975	2.015	0.19945	N	0.999945	P	0.43857	0.819	B	0.39503	0.301	T	0.41431	-0.9509	10	0.87932	D	0	-16.137	7.1976	0.25862	0.0:0.5944:0.0:0.4056	.	248	Q96BH1	RNF25_HUMAN	P	248	ENSP00000295704:R248P	ENSP00000295704:R248P	R	-	2	0	RNF25	219237764	0.064000	0.20934	0.318000	0.25279	0.792000	0.44763	1.769000	0.38522	0.415000	0.25817	0.561000	0.74099	CGG	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		46.124053	0	-6	47	0	0	1	0	NM_022453	18	48.567205	44	0.290323
ATG2A	23130	broad.mit.edu	hg19	11	64677225	64677225	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr11:64677225G>A	ENST00000421419.2	-	14	2149	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	ATG2A_ENST00000377264.3_Missense_Mutation_p.R679W			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	679				protein binding	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55					AGCTCTGACCGGAACTGGGGC	0.682	1	34.0	38.0	37.0	11	64677225	2201	4297	6498	SO:0001583	missense		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046		29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""		21887408	Standard	NM_015104	Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2035C>T	11.37:g.64677225G>A	ENSP00000366475:p.Arg679Trp	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109091|4.109091	0.77096|0.77096	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07567	.|3.18;3.18	4.28|4.28	3.35|3.35	0.38373|0.38373	.|.	.|0.071334	.|0.56097	.|D	.|0.000032	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.44542|0.44542	1.39|1.39	0.41839|0.41839	D|D	0.990114|0.990114	.|D	.|0.76494	.|0.999	.|P	.|0.60415	.|0.874	T|T	0.00958|0.00958	-1.1500|-1.1500	5|10	.|0.87932	.|D	.|0	.|.	9.6199|9.6199	0.39714|0.39714	0.0:0.0:0.7916:0.2084|0.0:0.0:0.7916:0.2084	.|.	.|679	.|Q2TAZ0	.|ATG2A_HUMAN	L|W	480|679	.|ENSP00000410522:R679W;ENSP00000366475:R679W	.|ENSP00000366475:R679W	P|R	-|-	2|1	0|2	ATG2A|ATG2A	64433801|64433801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.644000|1.644000	0.37228|0.37228	1.133000|1.133000	0.42147|0.42147	0.561000|0.561000	0.74099|0.74099	CCG|CGG	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		-2.512283	0	-19	32	0	0	1	0	NM_015104	3	6.788511	44	0.063830
ASPM	259266	broad.mit.edu	hg19	1	197111537	197111537	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111537C>T	ENST00000367409.4	-	3	2101	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	ASPM_ENST00000294732.7_Silent_p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	615		mitosis	cytoplasm|nucleus	calmodulin binding	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165					TTTTTGTTTTCTTAACAGCTG	0.348	0	195.0	207.0	203.0	1	197111537	2203	4300	6503	SO:0001819	synonymous_variant	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279		19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5	11078481	Standard	NM_018136	Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1845G>A	1.37:g.197111537C>T		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	ENST00000367409.4	37	CCDS1389.1																																																																																			ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		254.472651	0	-5	184	0	0	1	0	NM_018136	81	254.478027	79	0.506250
ASIC1	41	broad.mit.edu	hg19	12	50453720	50453720	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:50453720G>A	ENST00000228468.4	+	3	926	c.541G>A	c.(541-543)Gct>Act	p.A181T	ASIC1_ENST00000447966.2_Missense_Mutation_p.A181T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	181		calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding							GGTCTGCAGCGCTGAAGACTT	0.617	0	58.0	52.0	54.0	12	50453720	2203	4300	6503	SO:0001583	missense	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881	"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2	9037075	Standard	NM_001095	Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.541G>A	12.37:g.50453720G>A	ENSP00000400228:p.Ala181Thr	A3KN86|E5KBL7|P78349|Q96CV2	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362688	0.61403	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64260	-0.09;-0.09	4.92	3.95	0.45737	.	0.288112	0.31370	N	0.007780	T	0.62974	0.2472	M	0.73598	2.24	0.80722	D	1	B;B	0.28470	0.032;0.213	B;B	0.32624	0.149;0.045	T	0.62407	-0.6861	10	0.31617	T	0.26	-6.7734	14.1973	0.65679	0.0:0.2276:0.7724:0.0	.	181;181	P78348;P78348-1	ACCN2_HUMAN;.	T	181	ENSP00000228468:A181T;ENSP00000400228:A181T	ENSP00000228468:A181T	A	+	1	0	ACCN2	48739987	0.985000	0.35326	0.982000	0.44146	0.974000	0.67602	3.237000	0.51344	2.674000	0.91012	0.655000	0.94253	GCT	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		50.738745	0	5	45	0	0	1	0	NM_020039	15	53.179815	2	0.882353
GAB1	2549	broad.mit.edu	hg19	4	144336795	144336795	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr4:144336795G>A	ENST00000262995.4	+	2	665	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GAB1_ENST00000262994.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	80	PH.	cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)				AAAAGAGTTTGAAAACAGCTA	0.333	0	95.0	93.0	94.0	4	144336795	2203	4300	6503	SO:0001583	missense	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458	"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439			8596638	Standard	NM_207123	Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262995.4:c.238G>A	4.37:g.144336795G>A	ENSP00000262995:p.Glu80Lys	A8K152|Q4W5G2|Q6P1W2	ENST00000262995.4	37	CCDS3760.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314249	0.95655	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000509992	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	N	0.17564	0.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	T	0.72054	-0.4406	10	0.18276	T	0.48	2.1267	20.6593	0.99626	0.0:0.0:1.0:0.0	.	80;80	Q13480;Q13480-2	GAB1_HUMAN;.	K	80;80;80;59	ENSP00000262995:E80K;ENSP00000262994:E80K;ENSP00000427435:E80K;ENSP00000425921:E59K	ENSP00000262994:E80K	E	+	1	0	GAB1	144556245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.885000	0.99019	0.655000	0.94253	GAA	GAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364898.3		38.066128	0	-7	51	0	0	1	0	NM_002039	13	38.479112	21	0.382353
ABR	29	broad.mit.edu	hg19	17	960239	960239	+	Splice_Site	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr17:960239G>A	ENST00000544583.2	-	13	1946	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Splice_Site_p.D458D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000302538.5_Splice_Site_p.D495D|ABR_ENST00000574437.1_Splice_Site_p.D449D	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	495	PH.	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	CGAGCTTACCGTCTTTATTGC	0.562	0	162.0	149.0	154.0	17	960239	2203	4300	6503	SO:0001630	splice_region_variant	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""		2587217, 7479768	Standard	NM_001092	Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1486+1C>T	17.37:g.960239G>A		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	ENST00000302538.5	37	CCDS10999.1																																																																																			ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		260.159126	0	-17	187	0	0	1	0		85	261.457598	120	0.414634
ARPC1B	10095	broad.mit.edu	hg19	7	98985821	98985821	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:98985821A>G	ENST00000451682.1	+	6	638	c.329A>G	c.(328-330)aAg>aGg	p.K110R	ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	110		cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		AACGAGAACAAGTTTGCTGTG	0.617	0	65.0	61.0	62.0	7	98985821	2203	4300	6503	SO:0001583	missense	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429	"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""		9230079, 9359840	Standard	NM_005720	Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.329A>G	7.37:g.98985821A>G	ENSP00000389631:p.Lys110Arg	Q9BU00	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	a	32	5.142707	0.94560	.	.	ENSG00000130429	ENST00000252725;ENST00000455009;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.83953	2.67	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72338	0.977;0.977	T	0.82339	-0.0506	9	.	.	.	-37.2075	15.357	0.74434	1.0:0.0:0.0:0.0	.	110;110	A4D275;O15143	.;ARC1B_HUMAN	R	110	ENSP00000252725:K110R;ENSP00000410238:K110R;ENSP00000403324:K110R;ENSP00000398110:K110R;ENSP00000403211:K110R;ENSP00000388802:K110R;ENSP00000389631:K110R	.	K	+	2	0	ARPC1B	98823757	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.311000	0.96282	2.172000	0.68678	0.454000	0.30748	AAG	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1		71.984906	0	10	51	0	0	1	0	NM_005720	24	72.677690	38	0.387097
CYSLTR2	57105	broad.mit.edu	hg19	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129		immune response	integral to membrane|plasma membrane		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	ATTTATTTCCTGACCGTGCTG	0.468	0	209.0	201.0	204.0	13	49281339	2203	4300	6503	SO:0001583	missense	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207	"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666			10913337, 1085123	Standard	NM_020377	Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln	Q9HCQ2	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	CYSLTR2	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		105.722833	0	4	157	0	0	1	0		40	115.521345	124	0.243902
ERCC2	2068	broad.mit.edu	hg19	19	45855905	45855905	+	Silent	SNP	C	C	T	rs145835916		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:45855905C>T	ENST00000391945.4	-	21	1982	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	ERCC2_ENST00000391944.3_Silent_p.A557A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	635	Mediates interaction with MMS19.	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	ATTCCAGCCGCGCCTGCAGAT	0.597	0	36.0	36.0	36.0	19	45855905	2203	4299	6502	SO:0001819	synonymous_variant		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD	8413672, 2184031	Standard	NM_000400	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1905G>A	19.37:g.45855905C>T		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	ENST00000391945.4	37	CCDS33049.1																																																																																			ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		15.506481	0	-13	38	0	0	1	0	NM_000400	7	18.233456	27	0.205882