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
PPP2R2A	5520	broad.mit.edu	hg19	8	26212088	26212088	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr8:26212088G>C	ENST00000380737.3	+	4	614	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha						kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	TAGAAGAAAAGATCAACAAAA	0.368	0	95.0	94.0	95.0	8	26212088	2203	4300	6503	SO:0001583	missense	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""		1849734	Standard	NM_001177591	Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.285G>C	8.37:g.26212088G>C	ENSP00000370113:p.Lys95Asn	B2RBU8|B4E1T7|P50409|Q00007	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248856	0.95305	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30448	1.53;1.53	5.98	5.98	0.97165	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67239	0.2872	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73148	-0.4074	10	0.87932	D	0	-20.2926	20.4434	0.99119	0.0:0.0:1.0:0.0	.	105;95	B4E1T7;P63151	.;2ABA_HUMAN	N	95;105	ENSP00000370113:K95N;ENSP00000325074:K105N	ENSP00000325074:K105N	K	+	3	2	PPP2R2A	26268005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.838000	0.97847	0.655000	0.94253	AAG	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2		71.500761	0	-4	90	0	0	1	0	NM_002717	26	77.233574	77	0.252427
PTPN3	0	broad.mit.edu	hg19	9	112195403	112195403	+	Silent	SNP	G	G	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:112195403G>A	ENST00000412145.1	-	5	2874	c.321C>T	c.(319-321)tcC>tcT	p.S107S	PTPN3_ENST00000262539.3_Silent_p.S129S|PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000374541.2_Silent_p.S238S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	238	FERM.	negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41					CAACACCCGCGGAAGCAATTC	0.393	0	134.0	121.0	125.0	9	112195403	2203	4300	6503	SO:0001819	synonymous_variant		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877			1648725	Standard	NM_002829	Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.714C>T	9.37:g.112195403G>A		A0AUW9|E7EN99|E9PGU7	ENST00000374541.2	37	CCDS6776.1																																																																																			PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		-7.529862	0	27	91	0	0	1	0		3	6.754191	62	0.046154
TPCN1	53373	broad.mit.edu	hg19	12	113664727	113664727	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:113664727G>T	ENST00000550785.1	+	3	455	c.286G>T	c.(286-288)Gct>Tct	p.A96S	TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000335509.6_Missense_Mutation_p.A24S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	24			endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40					TGCCCCACTGGCTCCCTCCAA	0.582	0	62.0	54.0	57.0	12	113664727	2203	4300	6503	SO:0001583	missense	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815	"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666			10574461, 10753632, 16382101	Standard	XM_005253905	Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.70G>T	12.37:g.113664727G>T	ENSP00000335300:p.Ala24Ser	A7E258|Q86XS9|Q8NC20	ENST00000335509.6	37	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065925	0.36470	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.88	0.851	0.18989	.	0.539355	0.17831	N	0.160542	T	0.26340	0.0643	L	0.36672	1.1	0.25357	N	0.988814	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	4.2607	4.9598	0.14061	0.1893:0.3357:0.475:0.0	.	96;24	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	79;110;24;96;24;24;96;24;96	ENSP00000449560:A79S;ENSP00000447569:A110S;ENSP00000447073:A24S;ENSP00000447263:A96S;ENSP00000335300:A24S;ENSP00000448083:A96S;ENSP00000438125:A96S	ENSP00000335300:A24S	A	+	1	0	TPCN1	112149110	0.977000	0.34250	0.587000	0.28692	0.916000	0.54674	0.804000	0.27098	-0.014000	0.14175	0.462000	0.41574	GCT	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		21.490945	1	-6	38	0	2.17888e-05	1	2.17888e-05	NM_017901	8	22.210751	17	0.320000
PPP1R17	10842	broad.mit.edu	hg19	7	31732078	31732078	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr7:31732078A>G	ENST00000342032.3	+	2	651	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	8		behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction								GAGCAAATGCAGCCACTGGAA	0.438	0	118.0	104.0	108.0	7	31732078	2203	4300	6503	SO:0001583	missense	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16	10051666, 9920894	Standard	NM_006658	Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000409146.3:c.23A>G	7.37:g.31732078A>G	ENSP00000386459:p.Gln8Arg	B4DE58|Q9UDQ0	ENST00000409146.3	37	CCDS47570.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689711	0.48097	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.35421	1.31;1.34	6.16	5.0	0.66597	.	0.482604	0.21929	N	0.067047	T	0.33789	0.0875	L	0.54323	1.7	0.28909	N	0.892806	P;P	0.46512	0.879;0.879	B;B	0.39258	0.295;0.295	T	0.30387	-0.9980	10	0.54805	T	0.06	-8.7866	12.2987	0.54862	0.7331:0.2669:0.0:0.0	.	8;8	B4DE58;O96001	.;PPR17_HUMAN	R	8	ENSP00000340125:Q8R;ENSP00000386459:Q8R	ENSP00000340125:Q8R	Q	+	2	0	C7orf16	31698603	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.702000	0.47102	1.114000	0.41781	0.528000	0.53228	CAG	PPP1R17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328334.1		-7.025658	0	13	65	0	0	1	0	NM_006658	3	6.418007	59	0.048387
ADAM21	8747	broad.mit.edu	hg19	14	70925884	70925884	+	Silent	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr14:70925884T>C	ENST00000603540.1	+	2	1926	c.1668T>C	c.(1666-1668)tcT>tcC	p.S556S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	556	Cys-rich.	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	GTCATATCTCTGATGTCTTTT	0.383	0	39.0	50.0	46.0	14	70925884	2187	4290	6477	SO:0001819	synonymous_variant	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985	"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""		9469942	Standard	NM_003813	Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1668T>C	14.37:g.70925884T>C		O43507|Q2VPC6|Q32MR0	ENST00000603540.1	37	CCDS9804.1																																																																																			ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		73.252976	0	-29	55	0	0	1	0		25	73.257653	26	0.490196
GRM6	2916	broad.mit.edu	hg19	5	178410055	178410055	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr5:178410055C>T	ENST00000231188.5	-	9	2470	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	GRM6_ENST00000517717.1_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764		detection of visible light|visual perception	integral to plasma membrane		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	ACACTGTGCACGTGACCATGA	0.627	0	129.0	106.0	114.0	5	178410055	2203	4300	6503	SO:0001819	synonymous_variant	U82083	CCDS4442.1	5q35	2014-01-28					"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096			9215706	Standard	NM_000843	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2292G>A	5.37:g.178410055C>T			ENST00000517717.1	37	CCDS4442.1																																																																																			GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		80.773761	0	17	77	0	0	1	0		25	80.790414	27	0.480769
HELZ2	85441	broad.mit.edu	hg19	20	62193474	62193474	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:62193474C>T	ENST00000467148.1	-	10	6549	c.6480G>A	c.(6478-6480)gcG>gcA	p.A2160A	HELZ2_ENST00000427522.2_Silent_p.A1591A	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator												CCTCCCTGACCGCCACGTTCT	0.672	0	16.0	19.0	18.0	20	62193474	2188	4279	6467	SO:0001819	synonymous_variant	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589		30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265			11214970, 12189208, 16239304	Standard	NM_001037335	Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6480G>A	20.37:g.62193474C>T		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	ENST00000467148.1	37	CCDS33508.1																																																																																			HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		16.275172	0	0	22	0	0	1	0	NM_001037335	5	16.275172	5	0.500000
FCGRT	2217	broad.mit.edu	hg19	19	50028774	50028774	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:50028774C>T	ENST00000221466.5	+	6	1418	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	311		antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	TTGCTACTCACGGCAGCGGCT	0.612	0	81.0	70.0	74.0	19	50028774	2203	4300	6503	SO:0001583	missense	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870	"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437			7964511, 8646894	Standard	NM_001136019	Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.932C>T	19.37:g.50028774C>T	ENSP00000221466:p.Thr311Met	Q5HYM5|Q9HBV7|Q9NZ19	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874235	0.17395	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	3.93	-2.75	0.05914	.	3.584560	0.00772	N	0.001203	T	0.00666	0.0022	N	0.11064	0.09	0.09310	N	1	B	0.26602	0.154	B	0.11329	0.006	T	0.48768	-0.9006	10	0.87932	D	0	.	9.3362	0.38051	0.0:0.4716:0.0:0.5284	.	311	P55899	FCGRN_HUMAN	M	311	ENSP00000221466:T311M;ENSP00000410798:T311M	ENSP00000221466:T311M	T	+	2	0	FCGRT	54720586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.019000	0.01442	-0.641000	0.05487	-0.993000	0.02533	ACG	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		51.734862	0	-2	85	0	0	1	0		18	52.939461	35	0.339623
AMICA1	120425	broad.mit.edu	hg19	11	118071314	118071314	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr11:118071314C>T	ENST00000292067.7	-	6	1197	c.756G>A	c.(754-756)ccG>ccA	p.P252P	AMICA1_ENST00000356289.5_Silent_p.P262P|AMICA1_ENST00000533261.1_Silent_p.P251P|AMICA1_ENST00000526620.1_Silent_p.P223P	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262		blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	TCAGGGCTGCCGGGGTCACCA	0.522	0	73.0	75.0	75.0	11	118071314	2200	4296	6496	SO:0001819	synonymous_variant	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593	"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770			12975309	Standard	NM_001098526	Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000533261.1:c.753G>A	11.37:g.118071314C>T		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	ENST00000533261.1	37																																																																																				AMICA1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392106.1		50.899231	0	9	58	0	0	1	0	NM_153206	16	50.905786	17	0.484848
FOXL1	2300	broad.mit.edu	hg19	16	86612675	86612675	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:86612675C>T	ENST00000320241.3	+	1	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116		brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15					CGAGAAAGGGCGGCCGGGCAA	0.657	0	71.0	76.0	74.0	16	86612675	2198	4300	6498	SO:0001583	missense	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678	"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11	7957066	Standard	NM_005250	Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.346C>T	16.37:g.86612675C>T	ENSP00000326272:p.Arg116Trp	Q17RR1|Q9H242	ENST00000320241.3	37	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159965	0.57368	.	.	ENSG00000176678	ENST00000320241	D	0.95690	-3.78	3.93	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.075221	0.53938	D	0.000045	D	0.97309	0.9120	M	0.85197	2.74	0.46564	D	0.999103	D	0.89917	1.0	D	0.77004	0.989	D	0.96961	0.9701	10	0.87932	D	0	.	10.1866	0.43002	0.3608:0.6392:0.0:0.0	.	116	Q12952	FOXL1_HUMAN	W	116	ENSP00000326272:R116W	ENSP00000326272:R116W	R	+	1	2	FOXL1	85170176	0.010000	0.17322	0.981000	0.43875	0.801000	0.45260	0.248000	0.18198	0.823000	0.34589	0.491000	0.48974	CGG	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2		-13.868082	0	-25	99	0	0	1	0	NM_005250	4	7.515892	91	0.042105
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		60.062185	0	4	85	0	0	1	0	NM_002067	21	60.646349	33	0.388889
ZNF836	162962	broad.mit.edu	hg19	19	52659256	52659256	+	Silent	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:52659256G>C	ENST00000322146.8	-	5	2201	c.1680C>G	c.(1678-1680)ggC>ggG	p.G560G	ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	560		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26					TGAAGACCTTGCCACACACAT	0.383	0	165.0	176.0	172.0	19	52659256	2052	4237	6289	SO:0001819	synonymous_variant	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267	"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product						Standard	NM_001102657	Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1680C>G	19.37:g.52659256G>C			ENST00000322146.8	37	CCDS46162.1																																																																																			ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		158.622991	0	2	197	0	0	1	0	NM_001102657	54	162.348999	106	0.337500
RYR1	6261	broad.mit.edu	hg19	19	38979906	38979906	+	Silent	SNP	C	C	T	rs143418190	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:38979906C>T	ENST00000355481.4	+	35	5768	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D	RYR1_ENST00000359596.3_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1879	6 X approximate repeats.|Glu-rich (acidic).	muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		aggaggaggacgaggaggaag	0.498	0	91.0	75.0	80.0	19	38979906	2203	4300	6503	SO:0001819	synonymous_variant	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO	1862346, 16621918	Standard	NM_000540	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5637C>T	19.37:g.38979906C>T		Q16314|Q16368|Q9NPK1|Q9P1U4	ENST00000359596.3	37	CCDS33011.1																																																																																			RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		32.722253	0	7	31	0	0	1	0		11	32.758519	13	0.458333
RRBP1	6238	broad.mit.edu	hg19	20	17639295	17639295	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:17639295T>C	ENST00000377813.1	-	3	2161	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	620		protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28					GCCTCTTGCTTTGGTGCCTCT	0.473	0	152.0	139.0	143.0	20	17639295	2203	4300	6503	SO:0001583	missense	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844		10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""		8812507	Standard	NM_001042576	Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000360807.4:c.568A>G	20.37:g.17639295T>C	ENSP00000354045:p.Lys190Glu	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	ENST00000360807.4	37	CCDS13128.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768536	0.49680	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.41	4.29	0.51040	.	0.000000	0.37857	N	0.001901	T	0.31857	0.0810	L	0.46157	1.445	0.80722	D	1	B	0.31435	0.323	B	0.24006	0.05	T	0.07139	-1.0788	10	0.10111	T	0.7	-43.68	6.5132	0.22234	0.0:0.0794:0.1584:0.7622	.	190	Q9P2E9-3	.	E	190;620;190;620	ENSP00000354045:K190E;ENSP00000367044:K620E;ENSP00000367038:K190E;ENSP00000246043:K620E	ENSP00000246043:K620E	K	-	1	0	RRBP1	17587295	0.998000	0.40836	0.993000	0.49108	0.299000	0.27559	3.475000	0.53136	0.984000	0.38629	0.482000	0.46254	AAG	RRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078124.4		141.351072	0	0	140	0	0	1	0	NM_001042576	45	142.296109	67	0.401786
GIPC2	54810	ucsc.edu	hg19	1	78591631	78591631	+	Silent	SNP	C	C	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7																										CATGGGAATTCGAGATATTGA	0.279	0	73.0	77.0	76.0	1	78591631	2203	4299	6502	SO:0001819	synonymous_variant	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960		18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""				11836570	Standard	NM_017655	Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.781C>A	1.37:g.78591631C>A		Q8IYD3|Q9NXS7	ENST00000370759.3	37	CCDS685.1																																																																																			GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1				0	40					NM_017655	4		38	
IL24	11009	broad.mit.edu	hg19	1	207073691	207073691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:207073691C>T	ENST00000367093.3	+	4	569	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	IL24_ENST00000294984.2_Nonsense_Mutation_p.Q98*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	98		apoptosis	extracellular space	cytokine activity	endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)				GGAGGTTCTGCAGAACGTCTC	0.552	0	63.0	60.0	61.0	1	207073691	2203	4300	6503	SO:0001587	stop_gained	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892	"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16	8545104, 8799171	Standard	NM_001185156	Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000391929.3:c.295C>T	1.37:g.207073691C>T	ENSP00000375795:p.Gln99*	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	ENST00000391929.3	37	CCDS53465.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781078	0.70222	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.3	3.39	0.38822	.	0.873177	0.10153	N	0.709280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.7465	0.28873	0.0:0.8867:0.0:0.1133	.	.	.	.	X	99;98;99	.	ENSP00000294984:Q98X	Q	+	1	0	IL24	205140314	1.000000	0.71417	0.392000	0.26245	0.088000	0.18126	1.668000	0.37481	1.032000	0.39892	0.561000	0.74099	CAG	IL24-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088681.2		69.021168	0	-1	97	0	0	1	0	NM_006850	23	69.039341	25	0.479167
DOPEY1	23033	broad.mit.edu	hg19	6	83868338	83868338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr6:83868338C>T	ENST00000349129.2	+	36	7054	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2265		protein transport			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)	GAAGATATTTCACGGTAATAT	0.284	0	55.0	56.0	55.0	6	83868338	2199	4283	6482	SO:0001583	missense	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097		21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117	16301316, 16303751, 10931277	Standard	NM_015018	Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6794C>T	6.37:g.83868338C>T	ENSP00000195654:p.Ser2265Leu	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493494	0.64186	.	.	ENSG00000083097	ENST00000349129	T	0.39787	1.06	5.86	5.86	0.93980	.	0.325105	0.33534	N	0.004808	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P;P;P	0.49090	0.919;0.666;0.666	B;B;B	0.37550	0.253;0.162;0.162	T	0.08229	-1.0732	10	0.11182	T	0.66	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	2156;2256;2265	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2265	ENSP00000195654:S2265L	ENSP00000195654:S2265L	S	+	2	0	DOPEY1	83925057	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.330000	0.79181	2.937000	0.99478	0.650000	0.86243	TCA	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		41.242544	0	-9	26	0	0	1	0	NM_015018	14	41.271867	16	0.466667
BAP1	8314	broad.mit.edu	hg19	3	52437669	52437670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr3:52437669_52437670insA	ENST00000460680.1	-	13	1962_1963	c.1491_1492insT	c.(1489-1494)tctgagfs	p.E498fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	498		monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	CTGCCGATCTCAGAGGCCGTGT	0.644	0									SO:0001589	frameshift_variant	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1492dupT	3.37:g.52437670_52437670dupA	ENSP00000417132:p.Glu498fs	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1	37	CCDS2853.1																																																																																			BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.		4	26						11		1	0.92
TAS1R2	80834	broad.mit.edu	hg19	1	19180971	19180971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:19180971delG	ENST00000375371.3	-	3	1014	c.993delC	c.(991-993)cccfs	p.P331fs	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	331		detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	AGCCCGGGATGGGCACGCTCT	0.667	0	63.0	63.0	63.0	1	19180971	2203	4300	6503	SO:0001589	frameshift_variant		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71		Standard	NM_152232	Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.993delC	1.37:g.19180971delG	ENSP00000364520:p.Pro331fs	Q5TZ19	ENST00000375371.3	37	CCDS187.1																																																																																			TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	.	.		2	26						2		4	0.33
PAXBP1	94104	broad.mit.edu	hg19	21	34117154	34117154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr21:34117154delT	ENST00000331923.4	-	13	2328	c.2139delA	c.(2137-2139)aaafs	p.K713fs	PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1												CATTGATTAATTTTAGTGTAA	0.313	0	109.0	121.0	117.0	21	34117154	2203	4298	6501	SO:0001589	frameshift_variant	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086		13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1	11707072, 22862948	Standard	NM_016631	Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000290178.4:c.2139delA	21.37:g.34117154delT	ENSP00000290178:p.Lys713fs	D3DSE7|Q96DU8|Q9NYQ0	ENST00000290178.4	37	CCDS33541.1																																																																																			PAXBP1-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000139567.4	.	.		-9	133					NM_013329	38		60	0.39
MYH11	4629	broad.mit.edu	hg19	16	15814858	15814860	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:15814858_15814860delCTC	ENST00000452625.2	-	34	4735_4737	c.4648_4650delGAG	c.(4648-4650)gagdel	p.E1550del	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del|MYH11_ENST00000300036.5_In_Frame_Del_p.E1543del|NDE1_ENST00000396354.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1543		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123					GCGTCTTCATCTCCTCCATCTGG	0.611	0									SO:0001651	inframe_deletion	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""		7684189	Standard	NM_001040113	Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4627_4629delGAG	16.37:g.15814861_15814863delCTC	ENSP00000300036:p.Glu1543del	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	ENST00000300036.5	37	CCDS10565.1																																																																																			MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	.	.		-6	116					NM_001040113	26		65	0.29