#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCNN1D	6339	broad.mit.edu	37	1	1226037	1226037	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:1226037C>A	ENST00000338555.2	+	12	2532	c.1388C>A	c.(1387-1389)tCc>tAc	p.S463Y	SCNN1D_ENST00000379116.5_Missense_Mutation_p.S627Y|SCNN1D_ENST00000325425.8_Missense_Mutation_p.S529Y|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S463Y			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	463					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)	p.S463Y(1)|p.S627Y(1)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TTCAAGCTCTCCACTGGGACC	0.647																																						uc001adu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1387-1389)TCC>TAC		sodium channel, nonvoltage-gated 1, delta							59.0	59.0	59.0					1																	1226037		2190	4290	6480	SO:0001583	missense	6339							g.chr1:1226037C>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1388C>A	1.37:g.1226037C>A	ENSP00000339504:p.Ser463Tyr					SCNN1D_uc001adt.1_Missense_Mutation_p.S627Y|SCNN1D_uc001adw.2_Missense_Mutation_p.S529Y|SCNN1D_uc001adx.2_Missense_Mutation_p.S252Y|SCNN1D_uc001adv.2_Missense_Mutation_p.S463Y	p.S463Y	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	14	2012	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1388C>A		.	.	.	.	.	.	.	.	.	.	C	11.73	1.727233	0.30593	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	3.88	1.95	0.26073	.	0.255070	0.26991	U	0.021479	T	0.73753	0.3627	M	0.79475	2.455	0.09310	N	0.999999	P;D;D	0.76494	0.943;0.975;0.999	P;P;D	0.70716	0.854;0.854;0.97	T	0.63462	-0.6632	10	0.87932	D	0	.	6.6483	0.22947	0.0:0.7695:0.0:0.2305	.	285;463;627	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	Y	494;627;463;529;463	ENSP00000368411:S627Y;ENSP00000339504:S463Y;ENSP00000321594:S529Y;ENSP00000383717:S463Y	ENSP00000321594:S529Y	S	+	2	0	SCNN1D	1215900	0.008000	0.16893	0.013000	0.15412	0.044000	0.14063	1.455000	0.35190	0.146000	0.19002	0.306000	0.20318	TCC		PASS	0.647	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		41	106	41	106	---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9324831	9324831	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:9324831G>T	ENST00000377403.2	+	5	2581	c.2279G>T	c.(2278-2280)cGg>cTg	p.R760L	H6PD_ENST00000602477.1_Missense_Mutation_p.R771L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	760	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.R760L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGTGAGCCGGGTGGGCCAT	0.637																																						uc001apt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2278-2280)CGG>CTG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						29.0	27.0	28.0					1																	9324831		2203	4296	6499	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324831G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2279G>T	1.37:g.9324831G>T	ENSP00000366620:p.Arg760Leu						p.R760L	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2552	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	760			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2279G>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100394	0.76983	.	.	ENSG00000049239	ENST00000377403	D	0.98249	-4.82	5.45	5.45	0.79879	6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	L	0.58669	1.825	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.99826	1.1050	10	0.66056	D	0.02	-21.4816	18.2626	0.90041	0.0:0.0:1.0:0.0	.	760	O95479	G6PE_HUMAN	L	760	ENSP00000366620:R760L	ENSP00000366620:R760L	R	+	2	0	H6PD	9247418	1.000000	0.71417	0.989000	0.46669	0.614000	0.37383	7.569000	0.82380	2.564000	0.86499	0.561000	0.74099	CGG		PASS	0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		59	62	59	62	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18703336	18703336	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:18703336G>A	ENST00000251296.1	+	8	1527	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	382	Ig-like 2.					extracellular region (GO:0005576)		p.G382R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GACGCGGGTTGGGAGCCGCCT	0.647																																						uc001bau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1144-1146)GGG>AGG		immunoglobin superfamily, member 21 precursor							46.0	47.0	47.0					1																	18703336		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18703336G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1144G>A	1.37:g.18703336G>A	ENSP00000251296:p.Gly382Arg					IGSF21_uc001bav.1_Missense_Mutation_p.G203R	p.G382R	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1527	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	382			Ig-like 2.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.1144G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077118	0.94000	.	.	ENSG00000117154	ENST00000251296	T	0.16743	2.32	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50242	-0.8851	10	0.87932	D	0	-15.2038	17.5256	0.87799	0.0:0.0:1.0:0.0	.	382	Q96ID5	IGS21_HUMAN	R	382	ENSP00000251296:G382R	ENSP00000251296:G382R	G	+	1	0	IGSF21	18575923	1.000000	0.71417	0.948000	0.38648	0.920000	0.55202	9.322000	0.96357	2.460000	0.83146	0.591000	0.81541	GGG		PASS	0.647	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		35	85	35	85	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21133912	21133912	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:21133912T>C	ENST00000264211.8	-	31	4852	c.4658A>G	c.(4657-4659)aAg>aGg	p.K1553R	EIF4G3_ENST00000602326.1_Missense_Mutation_p.K1559R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.K1559R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.K1553R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.K1273R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.K1043R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.K1157R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1553	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.K1559R(1)|p.K1553R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCAGGGTCCTTGCTGCTCTC	0.498																																						uc001bec.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(4657-4659)AAG>AGG		eukaryotic translation initiation factor 4							181.0	179.0	180.0					1																	21133912		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21133912T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4658A>G	1.37:g.21133912T>C	ENSP00000264211:p.Lys1553Arg					EIF4G3_uc010odi.1_Missense_Mutation_p.K1157R|EIF4G3_uc010odj.1_Missense_Mutation_p.K1552R|EIF4G3_uc009vpz.2_Missense_Mutation_p.K1273R|EIF4G3_uc001bed.2_Missense_Mutation_p.K1553R|EIF4G3_uc001bef.2_Missense_Mutation_p.K1589R|EIF4G3_uc001bee.2_Missense_Mutation_p.K1559R	p.K1553R	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	32	4914	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1553			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4658A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.197592	0.58126	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.58	5.58	0.84498	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.047020	0.85682	D	0.000000	T	0.78317	0.4264	L	0.33339	1.005	0.80722	D	1	P;B;B;B;B	0.41978	0.767;0.186;0.089;0.008;0.195	P;B;B;B;B	0.44946	0.465;0.139;0.114;0.025;0.152	T	0.79943	-0.1590	10	0.62326	D	0.03	-18.87	10.15	0.42786	0.0:0.0745:0.0:0.9255	.	1748;1273;1157;1559;1553	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	R	1553;1749;1553;1273;1043;1559;1157	ENSP00000264211:K1553R;ENSP00000383274:K1553R;ENSP00000364071:K1273R;ENSP00000442010:K1043R;ENSP00000364073:K1559R;ENSP00000444693:K1157R	ENSP00000264211:K1553R	K	-	2	0	EIF4G3	21006499	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.013000	0.88655	2.126000	0.65437	0.397000	0.26171	AAG		PASS	0.498	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		144	228	144	228	---	---	---	---
TMEM57	55219	broad.mit.edu	37	1	25783156	25783156	+	Silent	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:25783156T>A	ENST00000374343.4	+	5	665	c.486T>A	c.(484-486)ccT>ccA	p.P162P	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	162					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.P162P(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGTACCCTGTGGTAACTT	0.383																																						uc001bkk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)CCT>CCA		transmembrane protein 57							60.0	57.0	58.0					1																	25783156		2203	4300	6503	SO:0001819	synonymous_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25783156T>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.486T>A	1.37:g.25783156T>A						TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	p.P162P	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	5	688	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	162			Helical; (Potential).		B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	ENST00000374343.4	37	c.486T>A	CCDS30638.1																																																																																				PASS	0.383	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		23	38	23	38	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29587268	29587268	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:29587268G>A	ENST00000345512.3	+	7	1126	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PTPRU_ENST00000356870.3_Missense_Mutation_p.E333K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E333K|PTPRU_ENST00000460170.2_Missense_Mutation_p.E333K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E333K|PTPRU_ENST00000373779.3_Missense_Mutation_p.E333K	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E333K(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCTGGGCTGAGGTGCACGC	0.637																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(997-999)GAG>AAG		protein tyrosine phosphatase, receptor type, U							64.0	61.0	62.0					1																	29587268		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587268G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.997G>A	1.37:g.29587268G>A	ENSP00000334941:p.Glu333Lys					PTPRU_uc001brv.2_Missense_Mutation_p.E333K|PTPRU_uc001brw.2_Missense_Mutation_p.E333K|PTPRU_uc009vtq.2_Missense_Mutation_p.E333K|PTPRU_uc009vtr.2_Missense_Mutation_p.E333K	p.E333K	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1107	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	333			Fibronectin type-III 1.|Extracellular (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.997G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903083	0.92035	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.61080	0.986;0.986;0.986;0.989;0.989	P;P;P;P;P	0.58928	0.764;0.764;0.764;0.848;0.848	T	0.70189	-0.4940	9	.	.	.	.	17.7715	0.88494	0.0:0.0:1.0:0.0	.	333;333;333;333;333	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	K	333	ENSP00000334941:E333K;ENSP00000362884:E333K;ENSP00000349333:E333K;ENSP00000314987:E333K;ENSP00000392332:E333K;ENSP00000432906:E333K	.	E	+	1	0	PTPRU	29459855	1.000000	0.71417	0.995000	0.50966	0.342000	0.28953	9.860000	0.99555	2.418000	0.82041	0.462000	0.41574	GAG		PASS	0.637	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			65	89	65	89	---	---	---	---
LAPTM5	7805	broad.mit.edu	37	1	31214487	31214487	+	Splice_Site	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:31214487C>G	ENST00000294507.3	-	3	332	c.258G>C	c.(256-258)aaG>aaC	p.K86N	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	86					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.K86N(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCTCACCTTGACTACGC	0.607																																						uc001bsc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)AAG>AAC		lysosomal protein transmembrane 5							58.0	56.0	56.0					1																	31214487		2203	4300	6503	SO:0001630	splice_region_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31214487C>G	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.258+1G>C	1.37:g.31214487C>G							p.K86N	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	3	349	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	86					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.258G>C	CCDS337.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446373	0.63178	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.55588	0.51	5.24	5.24	0.73138	.	0.067332	0.64402	D	0.000010	T	0.70133	0.3189	M	0.73598	2.24	0.43292	D	0.99527	D	0.64830	0.994	D	0.67382	0.951	T	0.71307	-0.4632	9	.	.	.	-17.519	14.3199	0.66479	0.0:1.0:0.0:0.0	.	86	Q13571	LAPM5_HUMAN	N	86	ENSP00000294507:K86N	.	K	-	3	2	LAPTM5	30987074	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.234000	0.58658	2.440000	0.82611	0.561000	0.74099	AAG		PASS	0.607	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762	Missense_Mutation	6	15	6	15	---	---	---	---
SDC3	9672	broad.mit.edu	37	1	31349607	31349607	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:31349607G>T	ENST00000339394.6	-	3	836	c.662C>A	c.(661-663)aCg>aAg	p.T221K	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Missense_Mutation_p.T163K	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	221	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T221K(1)|p.T221M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCGTGCCGTAGCCACTGT	0.672																																						uc001bse.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(661-663)ACG>AAG		syndecan 3							19.0	23.0	22.0					1																	31349607		2201	4295	6496	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349607G>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.662C>A	1.37:g.31349607G>T	ENSP00000344468:p.Thr221Lys					SDC3_uc001bsd.2_Missense_Mutation_p.T163K	p.T221K	NM_014654	NP_055469	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	3	709	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	221			Extracellular (Potential).|Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.662C>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516239	0.27123	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.38722	1.12;1.16	4.99	4.04	0.47022	.	0.086763	0.48767	D	0.000180	T	0.27594	0.0678	N	0.24115	0.695	0.33316	D	0.566728	P;P	0.39940	0.696;0.563	B;B	0.38655	0.278;0.189	T	0.38373	-0.9664	10	0.36615	T	0.2	-5.0362	9.009	0.36129	0.0:0.1436:0.5632:0.2931	.	221;163	O75056;D3DPN2	SDC3_HUMAN;.	K	163;221	ENSP00000338346:T163K;ENSP00000344468:T221K	ENSP00000338346:T163K	T	-	2	0	SDC3	31122194	0.997000	0.39634	0.750000	0.31169	0.013000	0.08279	2.632000	0.46511	1.047000	0.40274	0.462000	0.41574	ACG		PASS	0.672	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		6	34	6	34	---	---	---	---
TEKT2	27285	broad.mit.edu	37	1	36552339	36552339	+	Missense_Mutation	SNP	G	G	A	rs141019195		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:36552339G>A	ENST00000207457.3	+	5	650	c.523G>A	c.(523-525)Gac>Aac	p.D175N	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	175					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.D175N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAACTCCGACCATCGGGG	0.562																																						uc001bzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)GAC>AAC		tektin 2		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	130.0	116.0	121.0		523	5.5	1.0	1	dbSNP_134	121	0,8600		0,0,4300	no	missense	TEKT2	NM_014466.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	175/431	36552339	1,13005	2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552339G>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.523G>A	1.37:g.36552339G>A	ENSP00000207457:p.Asp175Asn					TEKT2_uc001bzs.2_Missense_Mutation_p.D81N|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank	p.D175N	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN			5	650	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	175					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.523G>A	CCDS401.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087412	0.76642	2.27E-4	0.0	ENSG00000092850	ENST00000207457	T	0.08546	3.08	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36386	0.0965	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17992	-1.0351	10	0.49607	T	0.09	.	18.9967	0.92817	0.0:0.0:1.0:0.0	.	175	Q9UIF3	TEKT2_HUMAN	N	175	ENSP00000207457:D175N	ENSP00000207457:D175N	D	+	1	0	TEKT2	36324926	1.000000	0.71417	0.976000	0.42696	0.143000	0.21401	9.706000	0.98722	2.567000	0.86603	0.563000	0.77884	GAC		PASS	0.562	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		117	204	117	204	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37346264	37346264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:37346264G>T	ENST00000373091.3	-	3	537	c.521C>A	c.(520-522)tCa>tAa	p.S174*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.S174*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	174					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.S174*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CACGGTGGCTGACCGCCACTT	0.622																																						uc001caz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(520-522)TCA>TAA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						274.0	255.0	262.0					1																	37346264		2203	4300	6503	SO:0001587	stop_gained	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346264G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.521C>A	1.37:g.37346264G>T	ENSP00000362183:p.Ser174*					GRIK3_uc001cba.1_Nonsense_Mutation_p.S174*	p.S174*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	656	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	174			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	ENST00000373091.3	37	c.521C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746204	0.89663	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	4.88	4.88	0.63580	.	0.079516	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.3911	0.90484	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000362183:S174X	S	-	2	0	GRIK3	37118851	1.000000	0.71417	0.953000	0.39169	0.416000	0.31233	9.430000	0.97488	2.426000	0.82243	0.561000	0.74099	TCA		PASS	0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		249	248	249	248	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38005899	38005899	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:38005899T>C	ENST00000296215.6	-	3	857	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	262					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y262C(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TTTAAATGGGTAGAGACGCCA	0.488																																						uc001cbi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(784-786)TAC>TGC		Smad nuclear interacting protein							85.0	82.0	83.0					1																	38005899		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38005899T>C		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.785A>G	1.37:g.38005899T>C	ENSP00000296215:p.Tyr262Cys					SNIP1_uc010oid.1_RNA	p.Y262C	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			3	858	-		Myeloproliferative disorder(586;0.0393)	262					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.785A>G	CCDS419.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539852	0.85917	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.35973	1.28	5.86	5.86	0.93980	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.95260	3.645	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.81129	-0.1073	10	0.72032	D	0.01	-9.7739	16.255	0.82510	0.0:0.0:0.0:1.0	.	262	Q8TAD8	SNIP1_HUMAN	C	262;246	ENSP00000296215:Y262C	ENSP00000296215:Y262C	Y	-	2	0	SNIP1	37778486	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.649000	0.83500	2.240000	0.73641	0.533000	0.62120	TAC		PASS	0.488	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		79	99	79	99	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43898205	43898205	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:43898205C>T	ENST00000562955.1	+	37	5289	c.5289C>T	c.(5287-5289)ccC>ccT	p.P1763P	SZT2_ENST00000372442.1_Silent_p.P921P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1820					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.P921P(3)|p.P1763P(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGCCAGCCCCCAAGCACCTG	0.632																																						uc001cjk.1																			4	Substitution - coding silent(4)	p.P921P(1)	lung(3)|breast(1)		0						c.(2761-2763)CCC>CCT		hypothetical protein LOC23334							84.0	94.0	91.0					1																	43898205		2203	4299	6502	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43898205C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5289C>T	1.37:g.43898205C>T							p.P921P	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			23	3225	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1820					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.2763C>T	CCDS30694.2																																																																																				PASS	0.632	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		113	295	113	295	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46763301	46763301	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:46763301G>A	ENST00000343304.6	-	3	576	c.291C>T	c.(289-291)ctC>ctT	p.L97L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	97					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.L97L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCTGAGTTGAGAGGCCTGTAA	0.468																																						uc001cpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(289-291)CTC>CTT		MUF1 protein							90.0	88.0	88.0					1																	46763301		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46763301G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.291C>T	1.37:g.46763301G>A						LRRC41_uc010omb.1_Silent_p.L97L|LRRC41_uc001cpo.1_Silent_p.L97L	p.L97L	NM_006369	NP_006360	Q15345	LRC41_HUMAN			3	335	-	Acute lymphoblastic leukemia(166;0.155)		97					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.291C>T	CCDS533.1																																																																																				PASS	0.468	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		30	76	30	76	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47755241	47755241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:47755241C>A	ENST00000360380.3	-	10	1252	c.889G>T	c.(889-891)Gga>Tga	p.G297*	STIL_ENST00000371877.3_Nonsense_Mutation_p.G297*|STIL_ENST00000396221.2_Nonsense_Mutation_p.G297*|STIL_ENST00000337817.5_Nonsense_Mutation_p.G297*|STIL_ENST00000243182.6_Nonsense_Mutation_p.G297*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	297					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G297*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGAAATTTCCAGATTCTGAA	0.338																																						uc001crc.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(1)	3						c.(889-891)GGA>TGA		SCL/TAL1 interrupting locus isoform 2							47.0	53.0	51.0					1																	47755241		2203	4300	6503	SO:0001587	stop_gained	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47755241C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.889G>T	1.37:g.47755241C>A	ENSP00000353544:p.Gly297*					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.G250*|STIL_uc010omo.1_Nonsense_Mutation_p.G297*|STIL_uc001crd.1_Nonsense_Mutation_p.G297*|STIL_uc001cre.1_Nonsense_Mutation_p.G297*|STIL_uc001crg.1_Nonsense_Mutation_p.G250*	p.G297*	NM_003035	NP_003026	Q15468	STIL_HUMAN			9	1044	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	297					Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	c.889G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	38	7.059779	0.98036	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.69	3.81	0.43845	.	0.200252	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0412	11.4713	0.50270	0.0:0.806:0.1261:0.0678	.	.	.	.	X	297;297;297;297;297;250	.	ENSP00000243182:G297X	G	-	1	0	STIL	47527828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.540000	0.45727	0.743000	0.32719	0.585000	0.79938	GGA		PASS	0.338	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		25	43	25	43	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50661265	50661265	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:50661265G>A	ENST00000371823.4	+	5	765	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ELAVL4_ENST00000448907.2_Missense_Mutation_p.D184N|ELAVL4_ENST00000371824.1_Missense_Mutation_p.D181N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.D181N|ELAVL4_ENST00000371819.1_Missense_Mutation_p.D186N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.D186N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.D198N	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	181	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D198N(1)|p.D181N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CATCCGCTTTGATAAGAGGAT	0.498																																						uc001csb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(541-543)GAT>AAT		ELAV-like 4 isoform 1							96.0	99.0	98.0					1																	50661265		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50661265G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.541G>A	1.37:g.50661265G>A	ENSP00000360888:p.Asp181Asn					ELAVL4_uc001cry.3_Missense_Mutation_p.D184N|ELAVL4_uc001crz.3_Missense_Mutation_p.D181N|ELAVL4_uc001csa.3_Missense_Mutation_p.D198N|ELAVL4_uc001csc.3_Missense_Mutation_p.D181N|ELAVL4_uc009vyu.2_Missense_Mutation_p.D186N|ELAVL4_uc010omz.1_Missense_Mutation_p.D186N	p.D181N	NM_021952	NP_068771	P26378	ELAV4_HUMAN			5	809	+			181			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.541G>A	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468358	0.96274	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.35288	1.05	0.80722	D	1	D;D;P;D;D;D;D	0.69078	0.972;0.968;0.932;0.997;0.982;0.993;0.994	P;P;P;D;P;P;P	0.70016	0.867;0.824;0.548;0.967;0.716;0.791;0.867	T	0.01532	-1.1331	10	0.59425	D	0.04	.	20.2087	0.98285	0.0:0.0:1.0:0.0	.	186;186;181;181;198;181;184	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	N	184;181;198;181;181;186;186	ENSP00000399939:D184N;ENSP00000360892:D181N;ENSP00000349594:D198N;ENSP00000360889:D181N;ENSP00000360888:D181N;ENSP00000360886:D186N;ENSP00000360884:D186N	ENSP00000349594:D198N	D	+	1	0	ELAVL4	50433852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.791000	0.96007	0.655000	0.94253	GAT		PASS	0.498	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		79	129	79	129	---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53676551	53676551	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:53676551A>C	ENST00000371486.3	+	4	1720	c.1205A>C	c.(1204-1206)cAg>cCg	p.Q402P	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	402					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.Q402P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCACAGAGCCAGCCAGCTACC	0.483																																						uc001cvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)CAG>CCG		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						46.0	47.0	46.0					1																	53676551		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676551A>C	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1205A>C	1.37:g.53676551A>C	ENSP00000360541:p.Gln402Pro						p.Q402P	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	1720	+			402			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.1205A>C	CCDS575.1	.	.	.	.	.	.	.	.	.	.	A	5.699	0.313489	0.10789	.	.	ENSG00000157184	ENST00000371486	D	0.89485	-2.52	5.99	-1.01	0.10169	.	0.901727	0.09960	N	0.733516	T	0.71829	0.3386	N	0.11364	0.135	0.37411	D	0.913221	B	0.02656	0.0	B	0.08055	0.003	T	0.61312	-0.7088	10	0.30078	T	0.28	-21.3262	0.7044	0.00913	0.456:0.1201:0.1921:0.2317	.	402	P23786	CPT2_HUMAN	P	402	ENSP00000360541:Q402P	ENSP00000360541:Q402P	Q	+	2	0	CPT2	53449139	0.000000	0.05858	0.998000	0.56505	0.337000	0.28794	0.254000	0.18314	0.119000	0.18210	-0.256000	0.11100	CAG		PASS	0.483	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		19	26	19	26	---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248539	59248539	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:59248539C>A	ENST00000371222.2	-	1	1246	c.204G>T	c.(202-204)ctG>ctT	p.L68L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	68					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L68L(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CCAGCTTGAGCAGCCCCACGT	0.662			A		sarcoma																																	uc001cze.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)CTG>CTT		jun oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						73.0	85.0	81.0					1																	59248539		2203	4300	6503	SO:0001819	synonymous_variant	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248539C>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.204G>T	1.37:g.59248539C>A						uc001czf.2_5'Flank|uc010oop.1_5'Flank	p.L68L	NM_002228	NP_002219	P05412	JUN_HUMAN			1	1247	-	all_cancers(7;8.55e-07)		68					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.204G>T	CCDS610.1																																																																																				PASS	0.662	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		124	273	124	273	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62330263	62330263	+	Nonsense_Mutation	SNP	T	T	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:62330263T>G	ENST00000371158.2	+	20	2907	c.2793T>G	c.(2791-2793)taT>taG	p.Y931*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Y931*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	931					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Y931*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGACTGTCTATTCCCAGGAGG	0.502																																						uc001dab.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2791-2793)TAT>TAG		InaD-like							84.0	90.0	88.0					1																	62330263		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62330263T>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2793T>G	1.37:g.62330263T>G	ENSP00000360200:p.Tyr931*					INADL_uc009waf.1_Nonsense_Mutation_p.Y931*|INADL_uc001daa.2_Nonsense_Mutation_p.Y931*|INADL_uc001dad.3_Nonsense_Mutation_p.Y628*|INADL_uc001dac.2_RNA	p.Y931*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			20	2907	+			931					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.2793T>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	39	7.456290	0.98296	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	4.38	-4.3	0.03710	.	0.538592	0.16123	N	0.228535	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3437	0.49548	0.0:0.5528:0.0:0.4472	.	.	.	.	X	931	.	ENSP00000255202:Y931X	Y	+	3	2	INADL	62102851	0.001000	0.12720	0.000000	0.03702	0.244000	0.25665	-0.034000	0.12225	-1.004000	0.03421	0.454000	0.30748	TAT		PASS	0.502	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		83	122	83	122	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507031	74507031	+	Missense_Mutation	SNP	C	C	A	rs530861813		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:74507031C>A	ENST00000395089.1	-	6	1583	c.1584G>T	c.(1582-1584)ttG>ttT	p.L528F	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L528F			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	528								p.L528F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTCCTCTGGTCAAAAGAGTGC	0.343																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1582-1584)TTG>TTT		leucine-rich repeats and IQ motif containing 3							97.0	94.0	95.0					1																	74507031		1803	4072	5875	SO:0001583	missense	127255							g.chr1:74507031C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1584G>T	1.37:g.74507031C>A	ENSP00000378524:p.Leu528Phe					LRRIQ3_uc001dfz.3_Intron	p.L528F	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1776	-			528					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1584G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651963	0.29336	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.16073	2.37;2.37	5.86	2.99	0.34606	.	.	.	.	.	T	0.04407	0.0121	L	0.32530	0.975	0.09310	N	1	B	0.29508	0.246	B	0.26094	0.066	T	0.36237	-0.9756	9	0.72032	D	0.01	.	6.2188	0.20669	0.0:0.6561:0.1733:0.1707	.	528	A6PVS8	LRIQ3_HUMAN	F	528	ENSP00000378524:L528F;ENSP00000346414:L528F	ENSP00000346414:L528F	L	-	3	2	LRRIQ3	74279619	0.017000	0.18338	0.002000	0.10522	0.016000	0.09150	0.171000	0.16685	0.478000	0.27488	0.650000	0.86243	TTG		PASS	0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		39	74	39	74	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86939149	86939149	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:86939149G>C	ENST00000234701.3	+	3	563	c.212G>C	c.(211-213)cGa>cCa	p.R71P	CLCA1_ENST00000394711.1_Missense_Mutation_p.R71P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	71	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R71P(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAGGAAAGCGATTTTATTTC	0.358																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)CGA>CCA		chloride channel accessory 1 precursor							66.0	66.0	66.0					1																	86939149		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86939149G>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.212G>C	1.37:g.86939149G>C	ENSP00000234701:p.Arg71Pro					CLCA1_uc001dls.1_Intron	p.R71P	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	341	+		Lung NSC(277;0.239)	71					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.212G>C	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416287	0.62511	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.22336	1.96;1.96	5.56	4.59	0.56863	Chloride channel calcium-activated (1);	0.147343	0.49305	D	0.000160	T	0.46639	0.1403	M	0.93016	3.37	0.32843	D	0.505688	D	0.89917	1.0	D	0.79108	0.992	T	0.57533	-0.7795	10	0.87932	D	0	-28.6918	13.5778	0.61885	0.0:0.0:0.845:0.155	.	71	A8K7I4	CLCA1_HUMAN	P	71	ENSP00000234701:R71P;ENSP00000378200:R71P	ENSP00000234701:R71P	R	+	2	0	CLCA1	86711737	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.739000	0.47409	2.776000	0.95493	0.655000	0.94253	CGA		PASS	0.358	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		42	144	42	144	---	---	---	---
TBX15	6913	broad.mit.edu	37	1	119467405	119467405	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:119467405C>A	ENST00000369429.3	-	4	566	c.557G>T	c.(556-558)gGc>gTc	p.G186V	TBX15_ENST00000207157.3_Missense_Mutation_p.G80V			Q96SF7	TBX15_HUMAN	T-box 15	186					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G80V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ATCAGCATTGCCAGCCACCAT	0.483																																						uc001ehl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(238-240)GGC>GTC		T-box 15							137.0	142.0	140.0					1																	119467405		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119467405C>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.557G>T	1.37:g.119467405C>A	ENSP00000358437:p.Gly186Val						p.G80V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	4	554	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	186			T-box.		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.239G>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.743814	0.89663	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.91180	-2.8;-2.8	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97128	0.9816	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	186	Q96SF7	TBX15_HUMAN	V	80;186	ENSP00000207157:G80V;ENSP00000358437:G186V	ENSP00000207157:G80V	G	-	2	0	TBX15	119268928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	GGC		PASS	0.483	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		169	152	169	152	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151497266	151497266	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:151497266G>C	ENST00000271636.7	+	8	1651	c.1518G>C	c.(1516-1518)gaG>gaC	p.E506D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	500	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E506D(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTGAAAGAGGAGGTAGCCT	0.612																																						uc009wmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1516-1518)GAG>GAC		cingulin							43.0	38.0	40.0					1																	151497266		2202	4300	6502	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151497266G>C	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1518G>C	1.37:g.151497266G>C	ENSP00000271636:p.Glu506Asp						p.E506D	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1662	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		500			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.1518G>C	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238549	0.58886	.	.	ENSG00000143375	ENST00000271636	T	0.72394	-0.65	4.57	1.65	0.23941	.	0.227868	0.45867	N	0.000324	T	0.44095	0.1277	L	0.52573	1.65	0.25729	N	0.985296	D	0.76494	0.999	P	0.51615	0.675	T	0.38478	-0.9659	10	0.13853	T	0.58	-26.2035	1.6223	0.02716	0.1814:0.1652:0.4835:0.1699	.	500	Q9P2M7	CING_HUMAN	D	506	ENSP00000271636:E506D	ENSP00000271636:E506D	E	+	3	2	CGN	149763890	0.883000	0.30277	1.000000	0.80357	0.995000	0.86356	-0.086000	0.11233	0.174000	0.19809	0.563000	0.77884	GAG		PASS	0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		48	28	48	28	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191644	152191644	+	Nonsense_Mutation	SNP	C	C	A	rs141963410		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:152191644C>A	ENST00000368801.2	-	3	2536	c.2461G>T	c.(2461-2463)Gag>Tag	p.E821*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	821					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E821*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCGTGTTGCCCA	0.567																																						uc001ezt.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2461-2463)GAG>TAG		hornerin							83.0	87.0	86.0					1																	152191644		2203	4300	6503	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191644C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2461G>T	1.37:g.152191644C>A	ENSP00000357791:p.Glu821*						p.E821*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2537	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		821			8.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.2461G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618003	0.96649	.	.	ENSG00000197915	ENST00000368801	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	8.0421	0.30527	0.0:1.0:0.0:0.0	.	.	.	.	X	821	.	ENSP00000357791:E821X	E	-	1	0	HRNR	150458268	0.050000	0.20438	0.004000	0.12327	0.095000	0.18619	0.882000	0.28186	1.269000	0.44280	0.456000	0.33151	GAG		PASS	0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	246	4	246	---	---	---	---
LCE2D	353141	broad.mit.edu	37	1	152636633	152636634	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:152636633_152636634CC>AA	ENST00000368784.1	+	2	107_108	c.52_53CC>AA	c.(52-54)CCc>AAc	p.P18N		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	18	Cys-rich.				keratinization (GO:0031424)			p.P18H(1)|p.P18T(1)|p.P18N(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAATGTCCTCCCAAGTGTACC	0.52																																						uc001fag.2																			3	Substitution - Missense(3)		lung(3)		0						c.(52-54)CCC>ACC|c.(52-54)CCC>CAC		late cornified envelope 2D																																				SO:0001583	missense	353141				keratinization			g.chr1:152636633C>A|g.chr1:152636634C>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	Exception_encountered	1.37:g.152636633_152636634delinsAA	ENSP00000357773:p.Pro18Asn						p.P18T|p.P18H	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	107|108	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		18			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.52C>A|c.53C>A	CCDS1018.1																																																																																				PASS	0.520	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		311|307	218|221	307	218	---	---	---	---
IVL	3713	broad.mit.edu	37	1	152882692	152882692	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:152882692A>G	ENST00000368764.3	+	2	483	c.419A>G	c.(418-420)aAg>aGg	p.K140R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	140					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.K140R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCTAGTCAAGAGAGATGAG	0.507																																						uc001fau.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(418-420)AAG>AGG		involucrin							62.0	66.0	65.0					1																	152882692		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882692A>G	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.419A>G	1.37:g.152882692A>G	ENSP00000357753:p.Lys140Arg						p.K140R	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	465	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		140					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.419A>G	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.586314	0.46110	.	.	ENSG00000163207	ENST00000368764	T	0.11495	2.77	3.57	0.953	0.19590	.	.	.	.	.	T	0.02649	0.0080	L	0.55481	1.735	0.34392	D	0.694253	P	0.43477	0.808	B	0.35607	0.206	T	0.49331	-0.8951	9	0.23891	T	0.37	.	3.9815	0.09497	0.4359:0.1915:0.0:0.3726	.	140	P07476	INVO_HUMAN	R	140	ENSP00000357753:K140R	ENSP00000357753:K140R	K	+	2	0	IVL	151149316	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	-0.131000	0.10482	0.059000	0.16252	0.358000	0.22013	AAG		PASS	0.507	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		21	70	21	70	---	---	---	---
PYGO2	90780	broad.mit.edu	37	1	154932143	154932143	+	Silent	SNP	C	C	T	rs550049773		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:154932143C>T	ENST00000368457.2	-	3	504	c.333G>A	c.(331-333)gcG>gcA	p.A111A	PYGO2_ENST00000483463.1_5'UTR|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Silent_p.A74A	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	111	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)	p.A111A(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTACCTGGCCCGCCATGCCCC	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13869	0.0		0.0	False		,,,				2504	0.0				NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(331-333)GCG>GCA		pygopus homolog 2							13.0	16.0	15.0					1																	154932143		2193	4279	6472	SO:0001819	synonymous_variant	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154932143C>T	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.333G>A	1.37:g.154932143C>T							p.A111A	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	539	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		111			Pro-rich.		Q8WYZ4|Q96CY2	Silent	SNP	ENST00000368457.2	37	c.333G>A	CCDS1075.1																																																																																				PASS	0.662	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		24	40	24	40	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156514248	156514248	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:156514248T>C	ENST00000361170.2	-	20	2331	c.2321A>G	c.(2320-2322)tAt>tGt	p.Y774C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	774	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.Y774C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGCTGCCTATAACCCCGCCA	0.483																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2320-2322)TAT>TGT		IQ motif containing GTPase activating protein 3							57.0	56.0	57.0					1																	156514248		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156514248T>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2321A>G	1.37:g.156514248T>C	ENSP00000354451:p.Tyr774Cys						p.Y774C	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			20	2396	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		774			IQ 2.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2321A>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834936	0.32421	.	.	ENSG00000183856	ENST00000361170	T	0.35236	1.32	4.73	3.58	0.41010	.	0.483397	0.21883	N	0.067710	T	0.40272	0.1110	M	0.84326	2.69	0.37278	D	0.907696	D	0.56287	0.975	P	0.56823	0.807	T	0.38845	-0.9642	10	0.39692	T	0.17	-3.0029	8.2948	0.31980	0.0:0.0925:0.0:0.9075	.	774	Q86VI3	IQGA3_HUMAN	C	774	ENSP00000354451:Y774C	ENSP00000354451:Y774C	Y	-	2	0	IQGAP3	154780872	0.000000	0.05858	0.957000	0.39632	0.982000	0.71751	0.115000	0.15540	0.814000	0.34374	0.454000	0.30748	TAT		PASS	0.483	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		51	28	51	28	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157494125	157494125	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:157494125T>A	ENST00000361835.3	-	10	2340	c.2183A>T	c.(2182-2184)gAg>gTg	p.E728V	FCRL5_ENST00000368191.3_Missense_Mutation_p.E643V|FCRL5_ENST00000368190.3_Missense_Mutation_p.E728V|FCRL5_ENST00000356953.4_Missense_Mutation_p.E728V|FCRL5_ENST00000461387.1_5'Flank	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	728	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E728V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATTGTCTGCCTCACAGGAGTA	0.557																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2182-2184)GAG>GTG		Fc receptor-like 5							60.0	65.0	63.0					1																	157494125		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494125T>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2183A>T	1.37:g.157494125T>A	ENSP00000354691:p.Glu728Val					FCRL5_uc009wsm.2_Missense_Mutation_p.E728V|FCRL5_uc010phv.1_Missense_Mutation_p.E728V|FCRL5_uc010phw.1_Missense_Mutation_p.E643V	p.E728V	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			10	2341	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	728			Extracellular (Potential).|Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2183A>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850415	0.51270	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.83	3.67	0.42095	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07279	0.0184	M	0.91920	3.255	0.80722	D	1	D;D;D;P	0.89917	0.968;1.0;0.998;0.887	P;D;D;P	0.83275	0.811;0.996;0.992;0.823	T	0.09400	-1.0676	9	0.31617	T	0.26	.	8.6513	0.34035	0.0:0.0:0.1935:0.8065	.	643;728;728;728	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	V	728;728;728;643	ENSP00000354691:E728V;ENSP00000349434:E728V;ENSP00000357173:E728V;ENSP00000357174:E643V	ENSP00000349434:E728V	E	-	2	0	FCRL5	155760749	0.722000	0.28017	0.841000	0.33234	0.459000	0.32528	2.179000	0.42528	0.948000	0.37687	0.528000	0.53228	GAG		PASS	0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		46	157	46	157	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214813603	214813603	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:214813603A>G	ENST00000366955.3	+	12	2090	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q641R(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAACTTGCAGAGTAAAATT	0.338																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(1921-1923)CAG>CGG		centromere protein F							35.0	38.0	37.0					1																	214813603		2202	4300	6502	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813603A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1922A>G	1.37:g.214813603A>G	ENSP00000355922:p.Gln641Arg						p.Q641R	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	2096	+			641			Potential.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.1922A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002494	0.35320	.	.	ENSG00000117724	ENST00000366955	T	0.03330	3.97	5.84	3.44	0.39384	.	0.495939	0.15118	N	0.279548	T	0.05410	0.0143	.	.	.	0.22552	N	0.998999	D	0.60575	0.988	P	0.53102	0.718	T	0.26849	-1.0091	9	0.09338	T	0.73	.	10.9624	0.47393	0.4933:0.0:0.0:0.5067	.	641	P49454	CENPF_HUMAN	R	641	ENSP00000355922:Q641R	ENSP00000355922:Q641R	Q	+	2	0	CENPF	212880226	0.998000	0.40836	0.950000	0.38849	0.991000	0.79684	1.622000	0.36997	0.414000	0.25790	0.496000	0.49642	CAG		PASS	0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		25	56	25	56	---	---	---	---
RHOU	58480	broad.mit.edu	37	1	228873420	228873420	+	Splice_Site	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:228873420C>A	ENST00000366691.3	+	2	929	c.263C>A	c.(262-264)gCg>gAg	p.A88E		NM_021205.5	NP_067028.1			ras homolog family member U									p.A88E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGTTTTTAAGCGGTGGTGTCT	0.473																																						uc001htf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)GCG>GAG		ras homolog gene family, member U							95.0	93.0	93.0					1																	228873420		2203	4300	6503	SO:0001630	splice_region_variant	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228873420C>A		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.263-1C>A	1.37:g.228873420C>A							p.A88E	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN			2	884	+	Breast(184;0.162)	Prostate(94;0.183)	88						Missense_Mutation	SNP	ENST00000366691.3	37	c.263C>A	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920580	0.73213	.	.	ENSG00000116574	ENST00000366691	T	0.76578	-1.03	5.21	4.29	0.51040	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	L	0.51853	1.615	0.80722	D	1	P	0.35383	0.498	B	0.43889	0.435	T	0.72465	-0.4285	9	.	.	.	.	10.7923	0.46440	0.0:0.9076:0.0:0.0924	.	88	Q7L0Q8	RHOU_HUMAN	E	88	ENSP00000355652:A88E	.	A	+	2	0	RHOU	226940043	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	4.853000	0.62911	2.425000	0.82216	0.557000	0.71058	GCG		PASS	0.473	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205	Missense_Mutation	33	201	33	201	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232619559	232619559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:232619559G>A	ENST00000366630.1	-	5	2318	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R654*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	654	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R654*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGCTGAGCTCGATATTTACTA	0.398																																						uc001hvg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1960-1962)CGA>TGA		signal-induced proliferation-associated 1 like							125.0	116.0	119.0					1																	232619559		1887	4124	6011	SO:0001587	stop_gained	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619559G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1960C>T	1.37:g.232619559G>A	ENSP00000355589:p.Arg654*						p.R654*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			4	2118	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	654			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	c.1960C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	43	10.367934	0.99392	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.65	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6842	13.6076	0.62056	0.0:0.0:0.6103:0.3897	.	.	.	.	X	654	.	ENSP00000262861:R654X	R	-	1	2	SIPA1L2	230686182	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	2.284000	0.43478	1.561000	0.49584	0.655000	0.94253	CGA		PASS	0.398	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		85	55	85	55	---	---	---	---
GGPS1	9453	broad.mit.edu	37	1	235506071	235506071	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:235506071A>T	ENST00000282841.5	+	4	1119	c.887A>T	c.(886-888)aAa>aTa	p.K296I	GGPS1_ENST00000358966.2_Missense_Mutation_p.K296I|GGPS1_ENST00000391855.2_Missense_Mutation_p.K242I|GGPS1_ENST00000476121.1_Missense_Mutation_p.K296I|GGPS1_ENST00000488594.1_Missense_Mutation_p.K296I			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	296					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)	p.K296I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	AAGATGTTCAAAGAAGAAAAT	0.338																																						uc001hwv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(886-888)AAA>ATA		geranylgeranyl diphosphate synthase 1 isoform A							37.0	36.0	36.0					1																	235506071		2203	4298	6501	SO:0001583	missense	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235506071A>T	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.887A>T	1.37:g.235506071A>T	ENSP00000282841:p.Lys296Ile					GGPS1_uc001hww.2_Missense_Mutation_p.K296I|GGPS1_uc001hwx.2_Missense_Mutation_p.K242I|GGPS1_uc001hwy.2_Missense_Mutation_p.K296I	p.K296I	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		4	971	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	296					A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	c.887A>T	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068334	0.36470	.	.	ENSG00000152904	ENST00000488594;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	6.17	0.0584	0.14327	Terpenoid synthase (1);	0.488678	0.26086	N	0.026434	T	0.65606	0.2707	L	0.46157	1.445	0.30043	N	0.812405	B	0.06786	0.001	B	0.12156	0.007	T	0.55711	-0.8098	10	0.35671	T	0.21	-9.0069	7.0346	0.24987	0.4632:0.1358:0.401:0.0	.	296	O95749	GGPPS_HUMAN	I	296;296;296;242;296	ENSP00000418690:K296I;ENSP00000351852:K296I;ENSP00000282841:K296I;ENSP00000420183:K296I	ENSP00000282841:K296I	K	+	2	0	GGPS1	233572694	0.989000	0.36119	0.998000	0.56505	0.879000	0.50718	0.533000	0.23082	-0.021000	0.14009	-0.274000	0.10170	AAA		PASS	0.338	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		52	35	52	35	---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798732	241798732	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:241798732C>A	ENST00000366553.1	-	1	500	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	113					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.V113F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCTCTTCAACGTTGTCCTCC	0.433																																						uc001hzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(337-339)GTT>TTT		choroideremia-like Rab escort protein 2							163.0	168.0	166.0					1																	241798732		2203	4298	6501	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798732C>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.337G>T	1.37:g.241798732C>A	ENSP00000355511:p.Val113Phe					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.V113F	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	501	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	113					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.337G>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617093	0.14129	.	.	ENSG00000203668	ENST00000366553	T	0.58060	0.36	4.53	-3.75	0.04372	.	0.491451	0.20770	U	0.086002	T	0.45716	0.1356	.	.	.	0.09310	N	1	P	0.43578	0.811	P	0.44860	0.462	T	0.50972	-0.8764	9	0.62326	D	0.03	0.0742	10.9825	0.47504	0.0:0.5429:0.0:0.4571	.	113	P26374	RAE2_HUMAN	F	113	ENSP00000355511:V113F	ENSP00000355511:V113F	V	-	1	0	CHML	239865355	0.000000	0.05858	0.001000	0.08648	0.149000	0.21700	-0.938000	0.03938	-0.620000	0.05641	-0.143000	0.13931	GTT		PASS	0.433	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		164	496	164	496	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244218085	244218085	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:244218085C>T	ENST00000358704.4	+	2	1158	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	328	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R328W(1)									GGAGCTGGACCGGGAGGACAA	0.572																																						uc001iae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(982-984)CGG>TGG		zinc finger protein 238 isoform 2							68.0	64.0	65.0					1																	244218085		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218085C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1009C>T	1.37:g.244218085C>T	ENSP00000351539:p.Arg337Trp					ZNF238_uc001iad.3_Missense_Mutation_p.R337W|ZNF238_uc001iaf.1_3'UTR	p.R328W	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1504	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		328			Interaction with DNMT3A.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.982C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407648	0.42715	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.13089	2.62	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.58620	0.972;0.983	B;P	0.47102	0.336;0.537	T	0.00780	-1.1569	10	0.62326	D	0.03	.	14.598	0.68419	0.1808:0.8192:0.0:0.0	.	328;337	Q99592;Q99592-2	ZN238_HUMAN;.	W	337	ENSP00000351539:R337W	ENSP00000351539:R337W	R	+	1	2	ZNF238	242284708	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.032000	0.57274	2.718000	0.92993	0.650000	0.86243	CGG		PASS	0.572	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		65	172	65	172	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343633	248343633	+	Missense_Mutation	SNP	G	G	C	rs200421339		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:248343633G>C	ENST00000359682.2	+	1	346	c.346G>C	c.(346-348)Gct>Cct	p.A116P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A116P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTTCTTTTGGCTGTTATGGC	0.403																																						uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(346-348)GCT>CCT		olfactory receptor, family 2, subfamily M,							202.0	217.0	212.0					1																	248343633		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343633G>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.346G>C	1.37:g.248343633G>C	ENSP00000352710:p.Ala116Pro						p.A116P	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	346	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		116			Helical; Name=3; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.346G>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	8.312	0.822421	0.16678	.	.	ENSG00000198601	ENST00000359682	T	0.00484	7.08	2.03	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.281368	0.18812	U	0.130472	T	0.00608	0.0020	M	0.91818	3.245	0.09310	N	1	B	0.31859	0.343	B	0.36030	0.216	T	0.40572	-0.9556	10	0.72032	D	0.01	.	3.247	0.06801	0.2549:0.0:0.1767:0.5685	.	116	Q96R28	OR2M2_HUMAN	P	116	ENSP00000352710:A116P	ENSP00000352710:A116P	A	+	1	0	OR2M2	246410256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.031000	0.13710	-0.236000	0.09753	-0.552000	0.04208	GCT		PASS	0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		407	235	407	235	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685250	248685250	+	Silent	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:248685250C>G	ENST00000343414.4	+	1	335	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L101L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCCAGCTCTATGTGGCCA	0.542																																						uc001ien.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(301-303)CTC>CTG		olfactory receptor, family 2, subfamily G,							110.0	108.0	109.0					1																	248685250		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685250C>G		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.303C>G	1.37:g.248685250C>G							p.L101L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	303	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	101			Helical; Name=3; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.303C>G	CCDS31119.1																																																																																				PASS	0.542	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		145	125	145	125	---	---	---	---
OR2T29	343563	broad.mit.edu	37	1	248722772	248722772	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:248722772C>A	ENST00000328570.3	-	1	25	c.21G>T	c.(19-21)atG>atT	p.M7I	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M7I(1)		NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTTGGCCATCCTGGTGA	0.473																																						uc001ieo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		olfactory receptor, family 2, subfamily T,							90.0	73.0	79.0					1																	248722772		2203	4298	6501	SO:0001583	missense	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722772C>A		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.21G>T	1.37:g.248722772C>A	ENSP00000331774:p.Met7Ile						p.M1I	NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	3	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		7			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328570.3	37	c.3G>T	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	c	6.898	0.535295	0.13188	.	.	ENSG00000182783	ENST00000328570	T	0.00452	7.34	2.34	2.34	0.29019	.	1.063280	0.07481	N	0.903859	T	0.00328	0.0010	L	0.41415	1.275	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.40664	-0.9551	10	0.23302	T	0.38	.	5.175	0.15129	0.0:0.8263:0.0:0.1737	.	7	Q8NH02	O2T29_HUMAN	I	7	ENSP00000331774:M7I	ENSP00000331774:M7I	M	-	3	0	OR2T29	246789395	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.027000	0.12371	1.365000	0.46057	0.134000	0.15878	ATG		PASS	0.473	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		22	123	22	123	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249210959	249210959	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr1:249210959C>T	ENST00000329291.5	+	3	323	c.176C>T	c.(175-177)tCa>tTa	p.S59L	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.S56L|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	59								p.S59L(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATGAGGACTCAGGGGATGAA	0.542																																						uc001ifh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)TCA>TTA		hypothetical protein LOC267002 isoform a							75.0	68.0	70.0					1																	249210959		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249210959C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.176C>T	1.37:g.249210959C>T	ENSP00000331643:p.Ser59Leu					PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.S56L	p.S59L	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	323	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	59					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.176C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050772	0.55218	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.19394	2.15;2.15	3.84	3.84	0.44239	.	.	.	.	.	T	0.32102	0.0818	L	0.47716	1.5	0.28153	N	0.929319	D;P	0.60575	0.988;0.895	P;B	0.58721	0.844;0.262	T	0.04281	-1.0963	9	0.33940	T	0.23	-6.3977	11.4678	0.50249	0.0:1.0:0.0:0.0	.	56;59	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	59;56	ENSP00000331643:S59L;ENSP00000439950:S56L	ENSP00000331643:S59L	S	+	2	0	PGBD2	247177582	0.907000	0.30839	0.927000	0.36925	0.541000	0.35023	1.440000	0.35024	2.154000	0.67381	0.655000	0.94253	TCA		PASS	0.542	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			27	106	27	106	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27670407	27670407	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:27670407G>A	ENST00000260570.3	-	42	4737	c.4634C>T	c.(4633-4635)tCt>tTt	p.S1545F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1545					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.S1545F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGGCTGCAGAGCGCGTGGC	0.502																																						uc002rku.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(4633-4635)TCT>TTT		selective LIM binding factor homolog							148.0	138.0	141.0					2																	27670407		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670407G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4634C>T	2.37:g.27670407G>A	ENSP00000260570:p.Ser1545Phe					IFT172_uc010ezb.2_RNA	p.S1545F	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			42	4685	-	Acute lymphoblastic leukemia(172;0.155)		1545					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4634C>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997436	0.74818	.	.	ENSG00000138002	ENST00000260570	T	0.47869	0.83	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.71581	2.175	0.80722	D	1	P	0.51057	0.941	P	0.56823	0.807	T	0.64330	-0.6433	10	0.49607	T	0.09	-10.2654	15.9265	0.79621	0.0:0.0:1.0:0.0	.	1545	Q9UG01	IF172_HUMAN	F	1545	ENSP00000260570:S1545F	ENSP00000260570:S1545F	S	-	2	0	IFT172	27523911	1.000000	0.71417	0.935000	0.37517	0.328000	0.28507	7.411000	0.80078	2.558000	0.86282	0.561000	0.74099	TCT		PASS	0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		80	504	80	504	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31152291	31152291	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:31152291C>T	ENST00000349752.5	-	11	1760	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	GALNT14_ENST00000406653.1_Missense_Mutation_p.R354Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R379Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R341Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R339Q|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	374					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R374Q(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGCGAATGGCCGGGCAGCGTA	0.542																																						uc002rnr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(1120-1122)CGG>CAG		N-acetylgalactosaminyltransferase 14							139.0	120.0	126.0					2																	31152291		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31152291C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1121G>A	2.37:g.31152291C>T	ENSP00000288988:p.Arg374Gln					GALNT14_uc002rnq.2_Missense_Mutation_p.R354Q|GALNT14_uc002rns.2_Missense_Mutation_p.R379Q|GALNT14_uc010ymr.1_Missense_Mutation_p.R339Q|GALNT14_uc010ezo.1_Missense_Mutation_p.R341Q	p.R374Q	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			11	1740	-	Acute lymphoblastic leukemia(172;0.155)		374			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1121G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847149	0.71603	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.21	4.33	0.51752	.	0.059686	0.64402	N	0.000002	T	0.78349	0.4269	M	0.81179	2.53	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.998;0.972;0.994	T	0.78259	-0.2273	10	0.33940	T	0.23	.	13.8076	0.63243	0.0:0.926:0.0:0.074	.	339;341;379;374;354	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	Q	374;379;354;341;339;341	ENSP00000288988:R374Q;ENSP00000314500:R379Q;ENSP00000385435:R354Q;ENSP00000348497:R341Q;ENSP00000415514:R339Q;ENSP00000406399:R341Q	ENSP00000314500:R379Q	R	-	2	0	GALNT14	31005795	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.911000	0.56378	1.326000	0.45319	0.561000	0.74099	CGG		PASS	0.542	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		4	170	4	170	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33752408	33752408	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:33752408A>T	ENST00000403687.3	+	10	1752	c.1012A>T	c.(1012-1014)Agt>Tgt	p.S338C	RASGRP3_ENST00000407811.1_Missense_Mutation_p.S338C|RASGRP3_ENST00000402538.3_Missense_Mutation_p.S338C	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	338	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.S338C(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CGTTACCCTGAGTGAACTAGT	0.478																																						uc002rox.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(1012-1014)AGT>TGT		RAS guanyl releasing protein 3 (calcium and							102.0	100.0	101.0					2																	33752408		1980	4161	6141	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752408A>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1012A>T	2.37:g.33752408A>T	ENSP00000384192:p.Ser338Cys					RASGRP3_uc010ync.1_Missense_Mutation_p.S338C|RASGRP3_uc002roy.2_Missense_Mutation_p.S338C	p.S338C	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			11	1639	+	all_hematologic(175;0.115)		338			Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1012A>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542633	0.85917	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.32515	1.45;1.45;1.45	5.74	5.74	0.90152	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.049459	0.85682	D	0.000000	T	0.37972	0.1023	M	0.62088	1.915	0.45995	D	0.998805	P;P	0.51537	0.946;0.946	P;P	0.44359	0.447;0.447	T	0.32640	-0.9899	10	0.62326	D	0.03	-8.761	16.0546	0.80788	1.0:0.0:0.0:0.0	.	338;338	D6W583;Q8IV61	.;GRP3_HUMAN	C	338	ENSP00000385886:S338C;ENSP00000384192:S338C;ENSP00000383917:S338C	ENSP00000385886:S338C	S	+	1	0	RASGRP3	33605912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.158000	0.71851	2.191000	0.70037	0.528000	0.53228	AGT		PASS	0.478	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		14	72	14	72	---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55870350	55870350	+	Splice_Site	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:55870350T>A	ENST00000447944.2	-	25	2100		c.e25-2			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.?(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTCCTGCTGTAAGTGCAA	0.299																																						uc002rzf.2																			1	Unknown(1)		lung(1)		0						c.e25-1		polyribonucleotide nucleotidyltransferase 1							131.0	121.0	124.0					2																	55870350		2203	4300	6503	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55870350T>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.2014-2A>T	2.37:g.55870350T>A						PNPT1_uc002rzg.2_Splice_Site	p.Q672_splice	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		25	2067	-								Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Splice_Site	SNP	ENST00000447944.2	37	c.2014_splice	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293120	0.80914	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4507	0.75271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNPT1	55723854	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.130000	0.77235	2.044000	0.60594	0.383000	0.25322	.		PASS	0.299	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Intron	65	62	65	62	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420530	56420530	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:56420530G>A	ENST00000407595.2	+	2	1697	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	399								p.E399K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAGGCACAGGAGGACGGGTC	0.612																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1195-1197)GAG>AAG		coiled-coil domain containing 85A							40.0	49.0	46.0					2																	56420530		2201	4296	6497	SO:0001583	missense	114800							g.chr2:56420530G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1195G>A	2.37:g.56420530G>A	ENSP00000384040:p.Glu399Lys						p.E399K	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1697	+			399						Missense_Mutation	SNP	ENST00000407595.2	37	c.1195G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675839	0.47781	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.11	5.11	0.69529	.	0.192269	0.53938	D	0.000060	T	0.51618	0.1685	N	0.24115	0.695	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.47774	-0.9091	9	0.51188	T	0.08	-0.3622	18.5199	0.90948	0.0:0.0:1.0:0.0	.	399	Q96PX6	CC85A_HUMAN	K	399	.	ENSP00000384040:E399K	E	+	1	0	CCDC85A	56274034	1.000000	0.71417	0.196000	0.23383	0.688000	0.40055	9.230000	0.95299	2.376000	0.81061	0.484000	0.47621	GAG		PASS	0.612	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			18	16	18	16	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71190703	71190703	+	Splice_Site	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:71190703T>A	ENST00000234396.4	+	11	1135	c.1062T>A	c.(1060-1062)gaT>gaA	p.D354E	ATP6V1B1_ENST00000412314.1_Splice_Site_p.D337E|AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	354					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.D354E(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TTCTTGTAGATATCACCCACC	0.562																																						uc002shj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1060-1062)GAT>GAA		ATPase, H+ transporting, lysosomal 56/58kDa, V1							148.0	112.0	124.0					2																	71190703		2203	4300	6503	SO:0001630	splice_region_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71190703T>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1061-1T>A	2.37:g.71190703T>A						ATP6V1B1_uc010fdv.2_Missense_Mutation_p.D337E|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.D312E	p.D354E	NM_001692	NP_001683	P15313	VATB1_HUMAN			11	1149	+			354					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.1062T>A	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133270	0.77662	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	D;D	0.86164	-2.08;-1.73	4.91	2.46	0.29980	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.066698	0.53938	N	0.000044	D	0.92130	0.7505	M	0.88241	2.94	0.58432	D	0.999992	P;D;D	0.61080	0.824;0.989;0.986	P;D;P	0.65573	0.619;0.936;0.821	D	0.89753	0.3941	10	0.87932	D	0	.	5.4263	0.16427	0.1538:0.0865:0.0:0.7597	.	329;337;354	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	E	354;329;337	ENSP00000234396:D354E;ENSP00000388353:D337E	ENSP00000234396:D354E	D	+	3	2	ATP6V1B1	71044211	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.254000	0.32897	0.347000	0.23924	0.533000	0.62120	GAT		PASS	0.562	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692	Missense_Mutation	73	59	73	59	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351161	98351161	+	Silent	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:98351161G>C	ENST00000264972.5	+	9	1283	c.1068G>C	c.(1066-1068)gtG>gtC	p.V356V	ZAP70_ENST00000442208.1_Silent_p.V230V|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.V49V	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V356V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCAGGGCGTGTACCGCATGC	0.637																																						uc002syd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1066-1068)GTG>GTC		zeta-chain associated protein kinase 70kDa							112.0	94.0	100.0					2																	98351161		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351161G>C	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1068G>C	2.37:g.98351161G>C						ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.V246V|ZAP70_uc002syf.1_Silent_p.V49V	p.V356V	NM_001079	NP_001070	P43403	ZAP70_HUMAN			9	1275	+			356			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1068G>C	CCDS33254.1																																																																																				PASS	0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			101	90	101	90	---	---	---	---
CNOT11	55571	broad.mit.edu	37	2	101869911	101869911	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:101869911G>T	ENST00000289382.3	+	1	648	c.485G>T	c.(484-486)gGc>gTc	p.G162V	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	162	Pro-rich.				cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.G162V(1)									gcccgcggcggccAGGAACCC	0.692																																						uc002taw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(484-486)GGC>GTC		hypothetical protein LOC55571							3.0	4.0	4.0					2																	101869911		1681	3412	5093	SO:0001583	missense	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101869911G>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.485G>T	2.37:g.101869911G>T	ENSP00000289382:p.Gly162Val						p.G162V	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			1	567	+			162			Pro-rich.		Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.485G>T	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	5.755	0.323761	0.10900	.	.	ENSG00000158435	ENST00000289382	T	0.55234	0.53	4.26	3.37	0.38596	.	0.096864	0.43260	D	0.000590	T	0.42359	0.1199	L	0.44542	1.39	0.58432	D	0.999998	B	0.27823	0.19	B	0.27076	0.076	T	0.17899	-1.0354	10	0.21014	T	0.42	-7.2418	12.0042	0.53248	0.0:0.3351:0.6649:0.0	.	162	Q9UKZ1	CB029_HUMAN	V	162	ENSP00000289382:G162V	ENSP00000289382:G162V	G	+	2	0	C2orf29	101236343	.	.	0.993000	0.49108	0.066000	0.16364	.	.	0.765000	0.33221	0.491000	0.48974	GGC		PASS	0.692	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		7	16	7	16	---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112755045	112755045	+	Silent	SNP	A	A	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:112755045A>C	ENST00000295408.4	+	10	1853	c.1596A>C	c.(1594-1596)acA>acC	p.T532T	MERTK_ENST00000409780.1_Silent_p.T356T|MERTK_ENST00000421804.2_Silent_p.T532T			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	532					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T532T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCCAGGAGACAAAGTTTGGGT	0.423																																						uc002thk.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1594-1596)ACA>ACC		MER receptor tyrosine kinase precursor							79.0	71.0	74.0					2																	112755045		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112755045A>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1596A>C	2.37:g.112755045A>C						MERTK_uc002thl.1_Silent_p.T356T	p.T532T	NM_006343	NP_006334	Q12866	MERTK_HUMAN			10	1718	+			532			Cytoplasmic (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1596A>C	CCDS2094.1																																																																																				PASS	0.423	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			21	88	21	88	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	115200385	115200385	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:115200385C>T	ENST00000410059.1	+	1	510	c.30C>T	c.(28-30)caC>caT	p.H10H		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	10	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.H10H(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTCCCATCACATCAAGTGTC	0.468																																						uc002tla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(28-30)CAC>CAT		dipeptidyl peptidase 10 isoform long							160.0	157.0	158.0					2																	115200385		2037	4210	6247	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:115200385C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.30C>T	2.37:g.115200385C>T							p.H10H	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			1	487	+			10			Mediates effects on KCND2.|Cytoplasmic (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.30C>T	CCDS46400.1																																																																																				PASS	0.468	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		7	62	7	62	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136590717	136590717	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:136590717C>A	ENST00000264162.2	-	2	694	c.684G>T	c.(682-684)gaG>gaT	p.E228D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	228	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E228D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTAGCAGGAGCTCCGGGATAT	0.488																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(682-684)GAG>GAT		lactase-phlorizin hydrolase preproprotein							148.0	160.0	156.0					2																	136590717		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136590717C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.684G>T	2.37:g.136590717C>A	ENSP00000264162:p.Glu228Asp						p.E228D	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	695	-			228			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.684G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299160	0.23650	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.57	2.79	0.32731	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.535983	0.20353	N	0.094010	T	0.23451	0.0567	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18116	-1.0347	10	0.52906	T	0.07	-14.2521	8.4163	0.32672	0.0:0.7517:0.0:0.2483	.	228	P09848	LPH_HUMAN	D	228	ENSP00000264162:E228D	ENSP00000264162:E228D	E	-	3	2	LCT	136307187	0.016000	0.18221	0.197000	0.23402	0.056000	0.15407	0.598000	0.24074	0.842000	0.35045	0.455000	0.32223	GAG		PASS	0.488	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		72	494	72	494	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141004694	141004694	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:141004694G>T	ENST00000389484.3	-	87	14256	c.13285C>A	c.(13285-13287)Cca>Aca	p.P4429T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4429					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P4429T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGGGGCTGGCCTTTCACAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13285-13287)CCA>ACA		low density lipoprotein-related protein 1B							111.0	103.0	106.0					2																	141004694		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141004694G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13285C>A	2.37:g.141004694G>T	ENSP00000374135:p.Pro4429Thr	TSP Lung(27;0.18)					p.P4429T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	87	14257	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4429			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13285C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731415	0.48939	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89810	-2.57	5.8	5.8	0.92144	.	0.070418	0.64402	D	0.000019	D	0.82618	0.5076	N	0.17901	0.54	0.46521	D	0.99908	P	0.39665	0.682	B	0.37943	0.261	T	0.80291	-0.1444	10	0.20519	T	0.43	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	4429	Q9NZR2	LRP1B_HUMAN	T	4429;4367	ENSP00000374135:P4429T	ENSP00000374135:P4429T	P	-	1	0	LRP1B	140721164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.744000	0.91596	2.741000	0.93983	0.650000	0.86243	CCA		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	45	14	45	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141115593	141115593	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:141115593G>C	ENST00000389484.3	-	74	12321	c.11350C>G	c.(11350-11352)Ctt>Gtt	p.L3784V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3784	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3784V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCATCAAGTCGATCACAC	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11350-11352)CTT>GTT		low density lipoprotein-related protein 1B							161.0	149.0	153.0					2																	141115593		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115593G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11350C>G	2.37:g.141115593G>C	ENSP00000374135:p.Leu3784Val	TSP Lung(27;0.18)					p.L3784V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	74	12322	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3784			Extracellular (Potential).|LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11350C>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.937|4.937	0.174127|0.174127	0.09391|0.09391	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.95272	.|-3.66	5.82|5.82	2.56|2.56	0.30785|0.30785	.|Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	.|0.153162	.|0.43747	.|D	.|0.000535	T|T	0.76435|0.76435	0.3987|0.3987	N|N	0.00960|0.00960	-1.095|-1.095	0.28485|0.28485	N|N	0.914747|0.914747	.|B	.|0.02656	.|0.0	.|B	.|0.10450	.|0.005	T|T	0.66360|0.66360	-0.5943|-0.5943	5|10	.|0.16420	.|T	.|0.52	.|.	0.4367|0.4367	0.00480|0.00480	0.2037:0.2501:0.2947:0.2516|0.2037:0.2501:0.2947:0.2516	.|.	.|3784	.|Q9NZR2	.|LRP1B_HUMAN	E|V	15|3784;3722	.|ENSP00000374135:L3784V	.|ENSP00000374135:L3784V	D|L	-|-	3|1	2|0	LRP1B|LRP1B	140832063|140832063	0.999000|0.999000	0.42202|0.42202	0.660000|0.660000	0.29694|0.29694	0.855000|0.855000	0.48748|0.48748	3.629000|3.629000	0.54266|0.54266	0.760000|0.760000	0.33108|0.33108	0.650000|0.650000	0.86243|0.86243	GAC|CTT		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	86	17	86	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141259330	141259330	+	Missense_Mutation	SNP	G	G	T	rs146247369		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:141259330G>T	ENST00000389484.3	-	55	9747	c.8776C>A	c.(8776-8778)Cat>Aat	p.H2926N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2926	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.H2926N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATTTATATGGCAGTTTCTC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8776-8778)CAT>AAT		low density lipoprotein-related protein 1B		G	ASN/HIS	2,4404	4.2+/-10.8	0,2,2201	114.0	117.0	116.0		8776	5.7	1.0	2	dbSNP_134	116	0,8600		0,0,4300	no	missense	LRP1B	NM_018557.2	68	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign	2926/4600	141259330	2,13004	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259330G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8776C>A	2.37:g.141259330G>T	ENSP00000374135:p.His2926Asn	TSP Lung(27;0.18)					p.H2926N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9748	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2926			Extracellular (Potential).|LDL-receptor class A 20.|EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8776C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225269	0.22457	4.54E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.86297	-2.1	5.71	5.71	0.89125	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.066074	0.64402	U	0.000016	T	0.80025	0.4548	N	0.17278	0.47	0.33403	D	0.577608	B	0.06786	0.001	B	0.04013	0.001	T	0.76258	-0.3025	10	0.27785	T	0.31	.	19.8494	0.96733	0.0:0.0:1.0:0.0	.	2926	Q9NZR2	LRP1B_HUMAN	N	2926;2864	ENSP00000374135:H2926N	ENSP00000374135:H2926N	H	-	1	0	LRP1B	140975800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.970000	0.63742	2.705000	0.92388	0.585000	0.79938	CAT		PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	18	36	18	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155295176	155295176	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:155295176C>T	ENST00000392825.3	+	12	2035	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P490S|AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	490	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P490S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTCAATGGACCTGTAATCAT	0.323																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1468-1470)CCT>TCT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							129.0	132.0	131.0					2																	155295176		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155295176C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1468C>T	2.37:g.155295176C>T	ENSP00000376570:p.Pro490Ser					GALNT13_uc002tyt.3_Missense_Mutation_p.P490S|GALNT13_uc010fod.2_Missense_Mutation_p.T222I|uc002tyu.1_Intron	p.P490S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			12	2035	+			490			Ricin B-type lectin.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1468C>T	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.203997|5.203997	0.95033|0.95033	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000453715|ENST00000450838;ENST00000422126	T;T;T|.	0.26660|.	1.72;1.72;1.72|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	B;P|B	0.36837|0.12013	0.425;0.571|0.005	B;B|B	0.33196|0.08055	0.159;0.078|0.003	T|T	0.66492|0.66492	-0.5910|-0.5910	10|8	0.38643|0.72032	T|D	0.18|0.01	.|.	16.9935|16.9935	0.86360|0.86360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	490;490|469	Q08ER7;Q8IUC8|Q8IUC8-2	.;GLT13_HUMAN|.	S|I	490;490;25|75;28	ENSP00000376570:P490S;ENSP00000387239:P490S;ENSP00000396612:P25S|.	ENSP00000376570:P490S|ENSP00000391469:T28I	P|T	+|+	1|2	0|0	GALNT13|GALNT13	155003422|155003422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.672000|7.672000	0.83956|0.83956	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	CCT|ACC		PASS	0.323	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		25	88	25	88	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163144789	163144789	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:163144789C>G	ENST00000263642.2	-	5	1346	c.951G>C	c.(949-951)caG>caC	p.Q317H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	317	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.Q317H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCAAGGCTGGCTGGGCAACTT	0.478																																						uc002uce.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CAG>CAC		interferon induced with helicase C domain 1							92.0	88.0	89.0					2																	163144789		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163144789C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.951G>C	2.37:g.163144789C>G	ENSP00000263642:p.Gln317His						p.Q317H	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			5	1173	-			317			Helicase ATP-binding.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.951G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410559	0.42715	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.36340	1.26	5.92	-7.95	0.01148	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.358051	0.34245	N	0.004140	T	0.24661	0.0598	L	0.31294	0.92	0.30327	N	0.787028	P	0.45672	0.864	B	0.40741	0.339	T	0.29305	-1.0016	10	0.59425	D	0.04	-5.4943	19.5971	0.95546	0.0:0.3534:0.0:0.6466	.	317	Q9BYX4	IFIH1_HUMAN	H	317	ENSP00000263642:Q317H	ENSP00000263642:Q317H	Q	-	3	2	IFIH1	162853035	0.004000	0.15560	0.475000	0.27278	0.977000	0.68977	-1.189000	0.03061	-1.716000	0.01387	-1.111000	0.02071	CAG		PASS	0.478	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		56	53	56	53	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106960	168106960	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:168106960G>A	ENST00000409195.1	+	9	9147	c.9058G>A	c.(9058-9060)Gaa>Aaa	p.E3020K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3020K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2798K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2845					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3020K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTCAAGCGGAAGATATGCT	0.348																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9058-9060)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							76.0	72.0	73.0					2																	168106960		1830	4074	5904	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106960G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9058G>A	2.37:g.168106960G>A	ENSP00000386840:p.Glu3020Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2845K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2798K|XIRP2_uc010fpr.2_Intron	p.E3020K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9076	+			2845			Potential.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9058G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063624	0.55432	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02737	4.18;4.18;4.18	5.88	5.88	0.94601	.	0.176577	0.49305	D	0.000142	T	0.12263	0.0298	M	0.67953	2.075	0.35512	D	0.800726	D;D;D	0.76494	0.999;0.999;0.993	D;D;D	0.75484	0.969;0.986;0.91	T	0.26916	-1.0089	10	0.06891	T	0.86	-19.4349	19.008	0.92859	0.0:0.0:1.0:0.0	.	2845;2845;2798	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3020;3020;2798;434	ENSP00000386840:E3020K;ENSP00000295237:E3020K;ENSP00000387255:E2798K	ENSP00000295237:E3020K	E	+	1	0	XIRP2	167815206	0.600000	0.26899	0.936000	0.37596	0.625000	0.37756	1.800000	0.38833	2.792000	0.96026	0.557000	0.71058	GAA		PASS	0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		25	99	25	99	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178936293	178936293	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:178936293C>A	ENST00000286063.6	-	1	1189	c.872G>T	c.(871-873)gGg>gTg	p.G291V	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	291	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.G291V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCCATGCTCCCCGACATAGCC	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(871-873)GGG>GTG		phosphodiesterase 11A isoform 4							149.0	130.0	137.0					2																	178936293		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936293C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.872G>T	2.37:g.178936293C>A	ENSP00000286063:p.Gly291Val					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.G291V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	1190	-			291			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.872G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883027	0.51908	.	.	ENSG00000128655	ENST00000286063	T	0.64438	-0.1	5.63	5.63	0.86233	GAF (2);	0.146091	0.64402	D	0.000008	T	0.39963	0.1098	N	0.03084	-0.415	0.80722	D	1	P	0.37061	0.58	B	0.35182	0.197	T	0.52510	-0.8566	10	0.87932	D	0	.	13.6281	0.62178	0.0:0.741:0.259:0.0	.	291	Q9HCR9	PDE11_HUMAN	V	291	ENSP00000286063:G291V	ENSP00000286063:G291V	G	-	2	0	PDE11A	178644539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.599000	0.74127	2.650000	0.89964	0.655000	0.94253	GGG		PASS	0.537	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			134	141	134	141	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395577	179395577	+	Silent	SNP	A	A	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:179395577A>C	ENST00000591111.1	-	308	101066	c.100842T>G	c.(100840-100842)tcT>tcG	p.S33614S	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S26382S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000589042.1_Silent_p.S35255S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S26315S|TTN_ENST00000460472.2_Silent_p.S26190S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Silent_p.S32687S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33614					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S26382S(1)|p.S26190S(1)|p.S26315S(1)|p.S32685S(1)|p.S32687S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTTCTGGAGATTTCACTC	0.498																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(98059-98061)TCT>TCG		titin isoform N2-A							133.0	130.0	131.0					2																	179395577		1889	4106	5995	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395577A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100842T>G	2.37:g.179395577A>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S26382S|TTN_uc010zfi.1_Silent_p.S26315S|TTN_uc010zfj.1_Silent_p.S26190S|TTN_uc002umq.2_5'Flank	p.S32687S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98285	-			33614					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.98061T>G																																																																																					PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	104	30	104	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179538385	179538385	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:179538385T>A	ENST00000591111.1	-	148	33863	c.33639A>T	c.(33637-33639)aaA>aaT	p.K11213N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K11587N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10286N			Q8WZ42	TITIN_HUMAN	titin	11213	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K10286N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCACTTTTTTAGGAACAG	0.328																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(30856-30858)AAA>AAT		titin isoform N2-A							105.0	98.0	100.0					2																	179538385		1817	4072	5889	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179538385T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33639A>T	2.37:g.179538385T>A	ENSP00000465570:p.Lys11213Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6947N|TTN_uc010fre.1_Missense_Mutation_p.K794N|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	p.K10286N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		147	31082	-			11213					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30858A>T		.	.	.	.	.	.	.	.	.	.	T	15.79	2.937486	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.78246	-1.16	6.02	-0.352	0.12598	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.82107	0.4965	L	0.52905	1.665	0.80722	D	1	P;D	0.76494	0.877;0.999	P;D	0.71414	0.494;0.973	T	0.79443	-0.1801	9	0.87932	D	0	.	9.999	0.41918	0.0:0.3336:0.0:0.6664	.	11213;10610	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	N	10286;805	ENSP00000343764:K10286N	ENSP00000343764:K10286N	K	-	3	2	TTN	179246630	0.937000	0.31787	0.992000	0.48379	0.998000	0.95712	-0.084000	0.11268	-0.275000	0.09219	0.528000	0.53228	AAA		PASS	0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	31	11	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179602984	179602984	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:179602984C>T	ENST00000591111.1	-	47	13469	c.13245G>A	c.(13243-13245)caG>caA	p.Q4415Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.Q4561Q|TTN_ENST00000589042.1_Silent_p.Q4732Q|TTN_ENST00000359218.5_Silent_p.Q4494Q|TTN_ENST00000460472.2_Silent_p.Q4369Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Silent_p.Q3488Q			Q8WZ42	TITIN_HUMAN	titin	12170	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q3488Q(2)|p.Q4561Q(1)|p.Q4369Q(1)|p.Q4494Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAAACCACTGGAACCGGA	0.478																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10462-10464)CAG>CAA		titin isoform N2-A							61.0	57.0	58.0					2																	179602984		1854	4095	5949	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179602984C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13245G>A	2.37:g.179602984C>T						TTN_uc010zfh.1_Silent_p.Q4561Q|TTN_uc010zfi.1_Silent_p.Q4494Q|TTN_uc010zfj.1_Silent_p.Q4369Q|TTN_uc002umz.1_Silent_p.Q149Q	p.Q3488Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10688	-			4415					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10464G>A																																																																																					PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	14	14	14	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179666959	179666959	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:179666959G>C	ENST00000591111.1	-	3	425	c.201C>G	c.(199-201)atC>atG	p.I67M	TTN_ENST00000342175.6_Missense_Mutation_p.I67M|TTN_ENST00000589042.1_Missense_Mutation_p.I67M|TTN_ENST00000360870.5_Missense_Mutation_p.I67M|TTN_ENST00000359218.5_Missense_Mutation_p.I67M|TTN_ENST00000460472.2_Missense_Mutation_p.I67M|TTN_ENST00000342992.6_Missense_Mutation_p.I67M			Q8WZ42	TITIN_HUMAN	titin	32679	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I67M(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGGCGGGGATCGTCAGTT	0.547																																						uc002und.2																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(199-201)ATC>ATG		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							138.0	123.0	128.0					2																	179666959		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179666959G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.201C>G	2.37:g.179666959G>C	ENSP00000465570:p.Ile67Met					TTN_uc010zfg.1_Missense_Mutation_p.I67M|TTN_uc010zfh.1_Missense_Mutation_p.I67M|TTN_uc010zfi.1_Missense_Mutation_p.I67M|TTN_uc010zfj.1_Missense_Mutation_p.I67M|TTN_uc002unb.2_Missense_Mutation_p.I67M	p.I67M			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	426	-			67					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.201C>G		.	.	.	.	.	.	.	.	.	.	G	16.37	3.102894	0.56183	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91646	0.7360	M	0.94063	3.49	0.44745	D	0.997742	D;D;D;D;D	0.67145	0.962;0.976;0.976;0.988;0.996	D;D;D;D;D	0.78314	0.972;0.972;0.972;0.985;0.991	D	0.93107	0.6513	9	0.87932	D	0	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	67;67;67;67;67	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	67	ENSP00000343764:I67M;ENSP00000434586:I67M;ENSP00000340554:I67M;ENSP00000352154:I67M;ENSP00000354117:I67M	ENSP00000340554:I67M	I	-	3	3	TTN	179375204	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.013000	0.88655	2.707000	0.92482	0.655000	0.94253	ATC		PASS	0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	89	81	89	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542874	182542874	+	Silent	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:182542874A>G	ENST00000295108.3	-	2	1171	c.714T>C	c.(712-714)caT>caC	p.H238H	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	238					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.H238H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTGGAAGACATGGGAGCTGT	0.622																																						uc002uof.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(712-714)CAT>CAC		neurogenic differentiation 1							63.0	68.0	67.0					2																	182542874		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542874A>G	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.714T>C	2.37:g.182542874A>G						CERKL_uc002uod.1_Intron	p.H238H	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	950	-			238					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.714T>C	CCDS2283.1																																																																																				PASS	0.622	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		104	108	104	108	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803623	185803623	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:185803623C>T	ENST00000302277.6	+	4	4094	c.3500C>T	c.(3499-3501)cCt>cTt	p.P1167L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1167							metal ion binding (GO:0046872)	p.P1167L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTGCTCCTCCTCAGATGCCA	0.517																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3499-3501)CCT>CTT		zinc finger protein 804A							234.0	208.0	217.0					2																	185803623		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803623C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3500C>T	2.37:g.185803623C>T	ENSP00000303252:p.Pro1167Leu						p.P1167L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4094	+			1167					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3500C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828658	0.71258	.	.	ENSG00000170396	ENST00000302277	T	0.08008	3.14	4.93	4.93	0.64822	.	0.157917	0.30446	N	0.009608	T	0.18257	0.0438	L	0.60455	1.87	0.58432	D	0.999997	D	0.54047	0.964	P	0.50860	0.652	T	0.00567	-1.1667	10	0.87932	D	0	-9.5958	17.1153	0.86687	0.0:1.0:0.0:0.0	.	1167	Q7Z570	Z804A_HUMAN	L	1167	ENSP00000303252:P1167L	ENSP00000303252:P1167L	P	+	2	0	ZNF804A	185511868	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.482000	0.53186	2.264000	0.75181	0.313000	0.20887	CCT		PASS	0.517	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		183	179	183	179	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189868763	189868763	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:189868763G>T	ENST00000304636.3	+	39	2887	c.2717G>T	c.(2716-2718)gGt>gTt	p.G906V	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	906	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G906V(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGCCCCCAGGTCCTGCGGGT	0.547																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2716-2718)GGT>GTT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						25.0	29.0	28.0					2																	189868763		2203	4299	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868763G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2717G>T	2.37:g.189868763G>T	ENSP00000304408:p.Gly906Val						p.G906V	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2834	+			906			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2717G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809372	0.70797	.	.	ENSG00000168542	ENST00000304636	D	0.99637	-6.29	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000077	D	0.99825	0.9922	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96785	0.9578	10	0.87932	D	0	.	19.4068	0.94651	0.0:0.0:1.0:0.0	.	906	P02461	CO3A1_HUMAN	V	906	ENSP00000304408:G906V	ENSP00000304408:G906V	G	+	2	0	COL3A1	189577008	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.694000	0.98686	2.590000	0.87494	0.551000	0.68910	GGT		PASS	0.547	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		10	52	10	52	---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190430288	190430288	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:190430288G>A	ENST00000261024.2	-	6	978	c.552C>T	c.(550-552)acC>acT	p.T184T		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	184					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.T184T(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CTAAGATGTTGGTTAACTGGT	0.483																																						uc002uqp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(550-552)ACC>ACT		solute carrier family 40 (iron-regulated							111.0	114.0	113.0					2																	190430288		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190430288G>A	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.552C>T	2.37:g.190430288G>A							p.T184T	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		6	903	-			184					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.552C>T	CCDS2299.1																																																																																				PASS	0.483	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			22	107	22	107	---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197781209	197781210	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:197781209_197781210CC>AA	ENST00000354764.4	-	3	523_524	c.409_410GG>TT	c.(409-411)GGt>TTt	p.G137F	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.G95F|PGAP1_ENST00000409475.1_Missense_Mutation_p.G137F	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	137					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.G137C(1)|p.G137V(1)|p.G137F(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAGACTTCCACCATACAAAGCC	0.376																																						uc002utw.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(409-411)GGT>GTT|c.(409-411)GGT>TGT		GPI deacylase																																				SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197781209C>A|g.chr2:197781210C>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.409_410delinsAA	2.37:g.197781209_197781210delinsAA	ENSP00000346809:p.Gly137Phe					PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.G137V|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR|PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.G137C|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	p.G137V|p.G137C	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			3	524|523	-			137			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.410G>T|c.409G>T	CCDS2318.1																																																																																				PASS	0.376	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		12	60|59	12	59	---	---	---	---
WDR12	55759	broad.mit.edu	37	2	203748393	203748393	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:203748393G>A	ENST00000261015.4	-	11	1809	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_018256.3	NP_060726.3			WD repeat domain 12									p.H354Y(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTGTTCATGGGTAGGAGAC	0.383																																						uc002uzl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)CAT>TAT		WD repeat domain 12 protein							89.0	79.0	82.0					2																	203748393		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203748393G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1060C>T	2.37:g.203748393G>A	ENSP00000261015:p.His354Tyr					WDR12_uc010ftt.2_Missense_Mutation_p.H354Y	p.H354Y	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			11	1810	-			354			WD 6.|Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000261015.4	37	c.1060C>T	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899135	0.91962	.	.	ENSG00000138442	ENST00000261015	T	0.18174	2.23	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	N	0.13098	0.295	0.58432	D	0.999996	D;D	0.61080	0.989;0.989	P;P	0.60789	0.879;0.879	T	0.09465	-1.0673	10	0.72032	D	0.01	-11.5756	19.6054	0.95580	0.0:0.0:1.0:0.0	.	354;354	Q53T99;Q9GZL7	.;WDR12_HUMAN	Y	354	ENSP00000261015:H354Y	ENSP00000261015:H354Y	H	-	1	0	WDR12	203456638	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.391000	0.73208	2.619000	0.88677	0.549000	0.68633	CAT		PASS	0.383	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		16	63	16	63	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204078285	204078285	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:204078285A>G	ENST00000449802.1	+	54	8225	c.7892A>G	c.(7891-7893)cAt>cGt	p.H2631R		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2631								p.H2631R(1)|p.H1341R(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGCCTATCCATTGTGTTTGT	0.378																																						uc002uzt.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(7891-7893)CAT>CGT		neurobeachin-like 1 isoform 3							161.0	147.0	151.0					2																	204078285		1890	4112	6002	SO:0001583	missense	65065						binding	g.chr2:204078285A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7892A>G	2.37:g.204078285A>G	ENSP00000399903:p.His2631Arg					NBEAL1_uc002uzs.3_Missense_Mutation_p.H1272R|NBEAL1_uc002uzu.2_Missense_Mutation_p.H126R	p.H2631R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			54	8225	+			2631					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7892A>G	CCDS46495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.830|1.830	-0.470113|-0.470113	0.04445|0.04445	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576|ENST00000434469	T;T|.	0.27402|.	5.11;1.67|.	5.61|5.61	4.46|4.46	0.54185|0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.137320|.	0.64402|.	D|.	0.000002|.	T|T	0.43612|0.43612	0.1255|0.1255	L|L	0.28115|0.28115	0.83|0.83	0.35900|0.35900	D|D	0.830282|0.830282	B;B;B|.	0.10296|.	0.002;0.003;0.001|.	B;B;B|.	0.11329|.	0.002;0.006;0.004|.	T|T	0.49184|0.49184	-0.8966|-0.8966	10|5	0.05620|.	T|.	0.96|.	.|.	9.4668|9.4668	0.38817|0.38817	0.857:0.0:0.143:0.0|0.857:0.0:0.143:0.0	.|.	1341;2631;2620|.	D1MPS9;Q6ZS30;C9JGK5|.	.;NBEL1_HUMAN;.|.	R|V	2631;2541;646|159	ENSP00000399903:H2631R;ENSP00000388466:H646R|.	ENSP00000344985:H2541R|.	H|I	+|+	2|1	0|0	NBEAL1|NBEAL1	203786530|203786530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	3.371000|3.371000	0.52379|0.52379	0.954000|0.954000	0.37851|0.37851	0.528000|0.528000	0.53228|0.53228	CAT|ATT		PASS	0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			84	79	84	79	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209108187	209108187	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:209108187C>A	ENST00000415913.1	-	6	1043	c.662G>T	c.(661-663)gGg>gTg	p.G221V	IDH1_ENST00000345146.2_Missense_Mutation_p.G221V|IDH1_ENST00000446179.1_Missense_Mutation_p.G221V	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	221					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G221L(1)|p.G221V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TTTAAAACGCCCATCATATTT	0.343			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2	Substitution - Missense(2)		lung(2)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(661-663)GGG>GTG		isocitrate dehydrogenase 1 (NADP+), soluble							92.0	93.0	93.0					2																	209108187		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209108187C>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.662G>T	2.37:g.209108187C>A	ENSP00000390265:p.Gly221Val					IDH1_uc002vct.2_Missense_Mutation_p.G221V|IDH1_uc002vcu.2_Missense_Mutation_p.G221V	p.G221V	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	6	908	-			221					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.662G>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901962	0.92035	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.79749	-1.3;-1.3;-1.3	5.76	5.76	0.90799	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96631	0.9467	10	0.87932	D	0	-22.5621	19.9766	0.97312	0.0:1.0:0.0:0.0	.	221	O75874	IDHC_HUMAN	V	221	ENSP00000260985:G221V;ENSP00000410513:G221V;ENSP00000390265:G221V	ENSP00000260985:G221V	G	-	2	0	IDH1	208816432	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.771000	0.85420	2.739000	0.93911	0.555000	0.69702	GGG		PASS	0.343	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	163	19	163	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225702549	225702549	+	Splice_Site	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:225702549C>A	ENST00000258390.7	-	25	2848		c.e25-1		DOCK10_ENST00000409592.3_Splice_Site	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10						regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTCAGAACCCTGCAAAAGCA	0.423																																						uc010fwz.1																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e25-1		dedicator of cytokinesis 10							66.0	65.0	66.0					2																	225702549		1912	4136	6048	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225702549C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2781-1G>T	2.37:g.225702549C>A						DOCK10_uc002vob.2_Splice_Site_p.R921_splice	p.R927_splice	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	25	3020	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)						B3FL70|O75178|Q9NW06|Q9NXI8	Splice_Site	SNP	ENST00000258390.7	37	c.2781_splice	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689616	0.48097	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK10	225410793	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	7.487000	0.81328	2.756000	0.94617	0.563000	0.77884	.		PASS	0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Intron	31	26	31	26	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225721669	225721669	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:225721669C>T	ENST00000258390.7	-	15	1783	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	DOCK10_ENST00000409592.3_Silent_p.V566V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	572					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V572V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCTCTGTCCACATTTCCCT	0.318																																						uc010fwz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1714-1716)GTG>GTA		dedicator of cytokinesis 10							98.0	93.0	95.0					2																	225721669		1827	4081	5908	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225721669C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1716G>A	2.37:g.225721669C>T						DOCK10_uc002vob.2_Silent_p.V566V	p.V572V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	15	1955	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	572					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.1716G>A	CCDS46528.1																																																																																				PASS	0.318	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			10	21	10	21	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231937100	231937100	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:231937100G>T	ENST00000308696.6	+	7	1014	c.852G>T	c.(850-852)acG>acT	p.T284T	PSMD1_ENST00000373635.4_Silent_p.T284T|PSMD1_ENST00000409643.1_Silent_p.T284T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.T284T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCACTAATACGGGTACTGTTC	0.393																																						uc002vrn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(850-852)ACG>ACT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						125.0	129.0	127.0					2																	231937100		2203	4300	6503	SO:0001819	synonymous_variant	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231937100G>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.852G>T	2.37:g.231937100G>T						PSMD1_uc002vrm.1_Silent_p.T284T|PSMD1_uc010fxu.1_Silent_p.T148T	p.T284T	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	983	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	284					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	c.852G>T	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	7.640	0.680651	0.14907	.	.	ENSG00000173692	ENST00000444007	.	.	.	5.98	-2.89	0.05665	.	.	.	.	.	T	0.37433	0.1003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32402	-0.9908	4	.	.	.	-12.7302	0.4125	0.00443	0.3717:0.1731:0.1912:0.264	.	.	.	.	W	136	.	.	G	+	1	0	PSMD1	231645344	0.000000	0.05858	0.951000	0.38953	0.986000	0.74619	-2.492000	0.00973	-0.615000	0.05679	-0.156000	0.13503	GGG		PASS	0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			79	81	79	81	---	---	---	---
ATG16L1	55054	broad.mit.edu	37	2	234178666	234178666	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:234178666G>T	ENST00000392017.4	+	6	917	c.660G>T	c.(658-660)ctG>ctT	p.L220L	ATG16L1_ENST00000392020.4_Silent_p.L220L|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Silent_p.L220L|ATG16L1_ENST00000347464.5_Silent_p.L76L|ATG16L1_ENST00000373525.5_Silent_p.L76L	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	220	WIPI2-binding. {ECO:0000269|PubMed:24954904}.				autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.L220L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AAGCCCGGCTGCAGAAAGAGC	0.443																																						uc002vty.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)		0						c.(658-660)CTG>CTT		APG16 autophagy 16-like isoform 1							73.0	87.0	82.0					2																	234178666		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234178666G>T	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.660G>T	2.37:g.234178666G>T						ATG16L1_uc002vtx.1_Silent_p.L76L|ATG16L1_uc002vua.2_Silent_p.L220L|ATG16L1_uc002vub.2_Silent_p.L97L|ATG16L1_uc002vtz.2_Silent_p.L76L|ATG16L1_uc002vud.3_Silent_p.L136L	p.L220L	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	6	917	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	220			Potential.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.660G>T	CCDS2503.2																																																																																				PASS	0.443	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		19	159	19	159	---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234652404	234652404	+	Intron	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:234652404G>A	ENST00000305139.6	+	2	1000				UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A3_ENST00000482026.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ACAACACCTCGTAGGCCTCGG	0.632																																						uc002vuz.2																			0					0						c.(157-159)TAC>TAT		DnaJ (Hsp40) homolog, subfamily B, member 3							155.0	168.0	163.0					2																	234652404		2082	4238	6320	SO:0001627	intron_variant	414061				protein folding		heat shock protein binding|unfolded protein binding	g.chr2:234652404G>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23276G>A	2.37:g.234652404G>A						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	p.Y53Y	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN			1	258	-			53			J.		A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.159C>T	CCDS2507.1																																																																																				PASS	0.632	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		111	455	111	455	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234835254	234835254	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:234835254G>T	ENST00000324695.4	+	2	112	c.72G>T	c.(70-72)ctG>ctT	p.L24L	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	24					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L24L(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCCGGACCCTGTACTCCAGCG	0.517																																						uc002vvh.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)	4						c.(70-72)CTG>CTT		transient receptor potential cation channel,	Menthol(DB00825)						121.0	107.0	112.0					2																	234835254		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234835254G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.72G>T	2.37:g.234835254G>T						TRPM8_uc010fyj.2_5'UTR	p.L24L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	2	112	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	24			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.72G>T	CCDS33407.1																																																																																				PASS	0.517	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		40	48	40	48	---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239037448	239037448	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr2:239037448G>T	ENST00000343063.3	+	8	1579	c.1316G>T	c.(1315-1317)cGg>cTg	p.R439L	ESPNL_ENST00000409506.1_Missense_Mutation_p.R71L|ESPNL_ENST00000409169.1_Missense_Mutation_p.R395L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	439								p.R439L(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGCCCACGCGGGATGAGCGC	0.706																																						uc002vxq.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1315-1317)CGG>CTG		espin-like							8.0	10.0	10.0					2																	239037448		2139	4227	6366	SO:0001583	missense	339768							g.chr2:239037448G>T	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1316G>T	2.37:g.239037448G>T	ENSP00000339115:p.Arg439Leu					ESPNL_uc010fyw.2_Missense_Mutation_p.R135L	p.R439L	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1426	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	439					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.1316G>T	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.419389	0.42918	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506;ENST00000423032	T;T;T	0.06933	3.24;3.24;3.24	4.51	-4.21	0.03812	.	0.991654	0.08180	N	0.985622	T	0.08891	0.0220	L	0.44542	1.39	0.24039	N	0.996081	B;B	0.21452	0.056;0.033	B;B	0.22601	0.04;0.018	T	0.32188	-0.9916	10	0.46703	T	0.11	-12.7014	14.1481	0.65362	0.8779:0.0:0.1221:0.0	.	395;439	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	L	439;395;71;71	ENSP00000339115:R439L;ENSP00000386577:R395L;ENSP00000386579:R71L	ENSP00000339115:R439L	R	+	2	0	ESPNL	238702187	0.988000	0.35896	0.781000	0.31783	0.541000	0.35023	1.282000	0.33226	-0.887000	0.03961	0.306000	0.20318	CGG		PASS	0.706	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		7	3	7	3	---	---	---	---
TSEN2	80746	broad.mit.edu	37	3	12531401	12531401	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:12531401G>T	ENST00000284995.6	+	2	489	c.102G>T	c.(100-102)ctG>ctT	p.L34L	TSEN2_ENST00000402228.3_Silent_p.L34L|TSEN2_ENST00000454502.2_Silent_p.L34L|TSEN2_ENST00000415684.1_Silent_p.L34L|TSEN2_ENST00000444864.1_Silent_p.L34L|TSEN2_ENST00000383797.5_Silent_p.L34L|TSEN2_ENST00000314571.7_Silent_p.L34L	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	34					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.L34L(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATGGTCCTCTGAAAGAATTCA	0.448																																						uc003bxc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(100-102)CTG>CTT		tRNA-intron nuclease 2 isoform 1							108.0	102.0	104.0					3																	12531401		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531401G>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.102G>T	3.37:g.12531401G>T						TSEN2_uc003bwy.2_Silent_p.L34L|TSEN2_uc003bwz.2_Silent_p.L34L|TSEN2_uc003bxa.2_Silent_p.L34L|TSEN2_uc011auq.1_Silent_p.L34L|TSEN2_uc003bxb.2_Silent_p.L34L|TSEN2_uc011aur.1_5'UTR	p.L34L	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			2	489	+			34					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.102G>T	CCDS2611.1																																																																																				PASS	0.448	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		4	171	4	171	---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27243972	27243972	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:27243972C>T	ENST00000429845.2	-	25	2529	c.2167G>A	c.(2167-2169)Gcg>Acg	p.A723T	NEK10_ENST00000383771.4_Missense_Mutation_p.A35T|NEK10_ENST00000383770.3_Missense_Mutation_p.A35T|NEK10_ENST00000295720.6_Missense_Mutation_p.A35T|NEK10_ENST00000357467.2_Missense_Mutation_p.A120T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	723					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A723T(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCAAAGTCGCCATCTGATAA	0.488																																						uc010hfk.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(103-105)GCG>ACG		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							91.0	79.0	83.0					3																	27243972		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27243972C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2167G>A	3.37:g.27243972C>T	ENSP00000395849:p.Ala723Thr					NEK10_uc003cds.1_Missense_Mutation_p.A120T|NEK10_uc010hfj.2_Missense_Mutation_p.A35T	p.A35T			Q6ZWH5	NEK10_HUMAN			3	332	-			723					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.103G>A		.	.	.	.	.	.	.	.	.	.	C	27.3	4.817183	0.90790	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.51325	0.71;0.71;0.71;1.02	5.72	5.72	0.89469	.	.	.	.	.	T	0.67297	0.2878	.	.	.	0.47153	D	0.999331	D;D;P	0.64830	0.994;0.994;0.615	P;P;B	0.61940	0.896;0.854;0.391	T	0.65965	-0.6040	8	0.46703	T	0.11	.	19.4868	0.95032	0.0:1.0:0.0:0.0	.	35;35;120	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	T	35;35;35;120	ENSP00000295720:A35T;ENSP00000373281:A35T;ENSP00000373280:A35T;ENSP00000350059:A120T	ENSP00000295720:A35T	A	-	1	0	NEK10	27218976	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	5.402000	0.66332	2.705000	0.92388	0.591000	0.81541	GCG		PASS	0.488	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		35	59	35	59	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31871615	31871615	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:31871615C>A	ENST00000396556.2	-	4	768	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	216					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.V216F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GTGATTGTGACAACACCGGGG	0.577																																						uc003cev.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(646-648)GTC>TTC		oxysterol-binding protein-like protein 10							64.0	60.0	61.0					3																	31871615		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31871615C>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.646G>T	3.37:g.31871615C>A	ENSP00000379804:p.Val216Phe					OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	p.V216F	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	1027	-			216					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.646G>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	9.857	1.195219	0.22037	.	.	ENSG00000144645	ENST00000396556	T	0.44881	0.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.31065	0.9	0.80722	D	1	B	0.15719	0.014	B	0.17979	0.02	T	0.15263	-1.0443	10	0.11485	T	0.65	-24.95	19.8125	0.96553	0.0:1.0:0.0:0.0	.	216	Q9BXB5	OSB10_HUMAN	F	216	ENSP00000379804:V216F	ENSP00000379804:V216F	V	-	1	0	OSBPL10	31846619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.128000	0.64733	2.694000	0.91930	0.561000	0.74099	GTC		PASS	0.577	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			35	51	35	51	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38945400	38945400	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:38945400T>A	ENST00000302328.3	-	12	1996	c.1798A>T	c.(1798-1800)Aag>Tag	p.K600*	SCN11A_ENST00000444237.2_Nonsense_Mutation_p.K600*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.K600*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.K600*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	600					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K600*(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCTCCATCTTGTGATGCTCC	0.373																																						uc011ays.1																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1798-1800)AAG>TAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						114.0	102.0	106.0					3																	38945400		2203	4300	6503	SO:0001587	stop_gained	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38945400T>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1798A>T	3.37:g.38945400T>A	ENSP00000307599:p.Lys600*						p.K600*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	12	1997	-			600			II.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	c.1798A>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	38	6.674661	0.97751	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.58	-3.41	0.04839	.	0.829920	0.11304	N	0.577911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9729	0.30138	0.0:0.2928:0.5343:0.1729	.	.	.	.	X	600	.	ENSP00000307599:K600X	K	-	1	0	SCN11A	38920404	0.000000	0.05858	0.000000	0.03702	0.300000	0.27592	-0.749000	0.04813	-0.490000	0.06707	0.477000	0.44152	AAG		PASS	0.373	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	157	4	157	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47467063	47467063	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:47467063G>C	ENST00000265565.5	-	8	1361	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	SCAP_ENST00000441517.2_Missense_Mutation_p.L62V|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	317	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.L317V(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACGGCAGCCAGGGCCAGCCCC	0.672																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CTG>GTG		SREBF chaperone protein							77.0	75.0	76.0					3																	47467063		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47467063G>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.949C>G	3.37:g.47467063G>C	ENSP00000265565:p.Leu317Val					SCAP_uc011baz.1_Missense_Mutation_p.L62V|SCAP_uc003crg.2_Intron	p.L317V	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	8	1204	-			317			SSD.|Helical; Name=3; (Potential).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.949C>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203848	0.79127	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	D;D	0.96168	-3.93;-3.93	5.42	2.6	0.31112	Sterol-sensing domain (1);	0.000000	0.64402	D	0.000002	D	0.93861	0.8036	L	0.37850	1.14	0.80722	D	1	D;P	0.55800	0.973;0.623	P;P	0.55055	0.767;0.739	D	0.91222	0.5007	10	0.33141	T	0.24	-14.2823	10.1824	0.42977	0.2799:0.0:0.7201:0.0	.	62;317	F8W921;Q12770	.;SCAP_HUMAN	V	317;317;62;10	ENSP00000265565:L317V;ENSP00000416847:L62V	ENSP00000265565:L317V	L	-	1	2	SCAP	47442067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.438000	0.59961	0.841000	0.35020	0.650000	0.86243	CTG		PASS	0.672	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		48	48	48	48	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48697982	48697982	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:48697982C>G	ENST00000164024.4	-	1	2366	c.2086G>C	c.(2086-2088)Gat>Cat	p.D696H	CELSR3_ENST00000544264.1_Missense_Mutation_p.D696H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	696	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D696H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAAGGAGTATCAGGTGCCACA	0.537																																						uc003cul.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2086-2088)GAT>CAT		cadherin EGF LAG seven-pass G-type receptor 3							59.0	55.0	56.0					3																	48697982		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697982C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2086G>C	3.37:g.48697982C>G	ENSP00000164024:p.Asp696His					CELSR3_uc003cuf.1_Missense_Mutation_p.D766H	p.D696H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2367	-			696			Extracellular (Potential).|Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2086G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279997	0.59758	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.54279	0.58;0.58	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63486	0.2515	L	0.41492	1.28	0.80722	D	1	D;D	0.71674	0.984;0.998	D;D	0.68353	0.957;0.954	T	0.64546	-0.6382	9	0.72032	D	0.01	.	14.3102	0.66410	0.0:0.9292:0.0:0.0707	.	696;766	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	696	ENSP00000164024:D696H;ENSP00000445694:D696H	ENSP00000164024:D696H	D	-	1	0	CELSR3	48672986	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	4.918000	0.63376	2.754000	0.94517	0.655000	0.94253	GAT		PASS	0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		50	21	50	21	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48698817	48698817	+	Silent	SNP	C	C	T	rs111946927		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:48698817C>T	ENST00000164024.4	-	1	1531	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.T417T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	417	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T417T(2)|p.M418L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCACCATCGTGGTGGCCG	0.657																																						uc003cul.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		urinary_tract(2)|lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1249-1251)ACG>ACA		cadherin EGF LAG seven-pass G-type receptor 3							23.0	28.0	26.0					3																	48698817		2195	4289	6484	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698817C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1251G>A	3.37:g.48698817C>T						CELSR3_uc003cuf.1_Silent_p.T487T	p.T417T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1532	-			417			Extracellular (Potential).|Cadherin 1.		O75092	Silent	SNP	ENST00000164024.4	37	c.1251G>A	CCDS2775.1																																																																																				PASS	0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		36	33	36	33	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51749765	51749765	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:51749765G>A	ENST00000395052.3	+	4	2210	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	659					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R659H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATTGCACGCATCTTCGGT	0.622																																						uc010hlv.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1975-1977)CGC>CAC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						75.0	66.0	69.0					3																	51749765		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749765G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1976G>A	3.37:g.51749765G>A	ENSP00000378492:p.Arg659His					GRM2_uc003dbo.3_Missense_Mutation_p.R41H|GRM2_uc010hlu.2_RNA	p.R659H	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2215	+			659			Cytoplasmic (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1976G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930307	0.92389	.	.	ENSG00000164082	ENST00000395052	D	0.89746	-2.56	5.16	5.16	0.70880	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95988	0.8983	10	0.72032	D	0.01	.	19.0285	0.92944	0.0:0.0:1.0:0.0	.	659	Q14416	GRM2_HUMAN	H	659	ENSP00000378492:R659H	ENSP00000378492:R659H	R	+	2	0	GRM2	51724805	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	9.855000	0.99526	2.576000	0.86940	0.561000	0.74099	CGC		PASS	0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			51	36	51	36	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71102787	71102787	+	Splice_Site	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:71102787C>A	ENST00000318789.4	-	8	945	c.420G>T	c.(418-420)caG>caT	p.Q140H	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000468577.1_Splice_Site_p.Q140H|FOXP1_ENST00000475937.1_Splice_Site_p.Q140H|FOXP1_ENST00000498215.1_Splice_Site_p.Q140H|FOXP1_ENST00000493089.1_Splice_Site_p.Q140H|FOXP1_ENST00000491238.1_Splice_Site_p.Q142H	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	140	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q140H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGACAATTACCTGTTGAAGCA	0.592			T	PAX5	ALL																																	uc003dol.2				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(418-420)CAG>CAT		forkhead box P1 isoform 1							107.0	92.0	97.0					3																	71102787		2203	4300	6503	SO:0001630	splice_region_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71102787C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.420+1G>T	3.37:g.71102787C>A						FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q140H|FOXP1_uc003dop.2_Missense_Mutation_p.Q140H|FOXP1_uc003doq.1_Missense_Mutation_p.Q140H|FOXP1_uc003doi.2_Missense_Mutation_p.Q40H|FOXP1_uc003doj.2_Missense_Mutation_p.Q40H|FOXP1_uc003dok.2_Intron	p.Q140H	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	4	743	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	140			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.420G>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125880	0.77436	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T	0.41400	1.28;1.28;1.28;1.28;1.28;1.28;1.49;1.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.73962	2.25	0.80722	D	1	D;D;D	0.64830	0.994;0.988;0.98	D;D;D	0.78314	0.991;0.977;0.948	T	0.65018	-0.6270	9	.	.	.	.	19.8017	0.96511	0.0:1.0:0.0:0.0	.	140;140;140	A3KMG1;G5E9V8;Q9H334	.;.;FOXP1_HUMAN	H	140;40;140;140;142;140;140;140;40;40	ENSP00000318902:Q140H;ENSP00000419393:Q140H;ENSP00000420736:Q142H;ENSP00000418524:Q140H;ENSP00000418102:Q140H;ENSP00000418883:Q140H;ENSP00000417941:Q40H;ENSP00000418784:Q40H	.	Q	-	3	2	FOXP1	71185477	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.027000	0.70881	2.743000	0.94032	0.591000	0.81541	CAG		PASS	0.592	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	Missense_Mutation	56	36	56	36	---	---	---	---
CADM2	253559	broad.mit.edu	37	3	85961556	85961556	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:85961556G>T	ENST00000407528.2	+	5	598	c.536G>T	c.(535-537)cGc>cTc	p.R179L	CADM2_ENST00000383699.3_Missense_Mutation_p.R188L|CADM2_ENST00000405615.2_Missense_Mutation_p.R181L	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	179	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R188L(1)|p.R181L(1)|p.R181H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATGCAAATCGCAAGACATTC	0.393																																						uc003dqj.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(535-537)CGC>CTC		immunoglobulin superfamily, member 4D							79.0	65.0	70.0					3																	85961556		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961556G>T	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.536G>T	3.37:g.85961556G>T	ENSP00000384575:p.Arg179Leu					CADM2_uc003dqk.2_Missense_Mutation_p.R188L|CADM2_uc003dql.2_Missense_Mutation_p.R181L	p.R179L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1162	+		Lung NSC(201;0.0148)	179			Ig-like C2-type 1.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.536G>T	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181039	0.78677	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.86230	-2.09;-2.09;-2.09	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048636	0.85682	D	0.000000	D	0.84687	0.5527	L	0.29908	0.895	0.53688	D	0.999979	B;B;P	0.36647	0.288;0.366;0.563	B;B;B	0.41088	0.281;0.12;0.347	D	0.84438	0.0581	10	0.49607	T	0.09	.	19.6138	0.95622	0.0:0.0:1.0:0.0	.	181;188;179	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	L	188;179;181	ENSP00000373200:R188L;ENSP00000384575:R179L;ENSP00000384193:R181L	ENSP00000373200:R188L	R	+	2	0	CADM2	86044246	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.261000	0.95576	2.640000	0.89533	0.591000	0.81541	CGC		PASS	0.393	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		28	50	28	50	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287797	122287797	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:122287797G>A	ENST00000296161.4	+	3	1050	c.861G>A	c.(859-861)ctG>ctA	p.L287L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	287					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L287L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAGGTGACCTGGAAGCAGCTC	0.398																																						uc003efk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(859-861)CTG>CTA		deltex 3-like							43.0	45.0	44.0					3																	122287797		2203	4297	6500	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287797G>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.861G>A	3.37:g.122287797G>A						DTX3L_uc010hrj.2_Intron	p.L287L	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	950	+			287					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.861G>A	CCDS3015.1																																																																																				PASS	0.398	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		65	32	65	32	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122399772	122399772	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:122399772C>T	ENST00000474629.2	+	1	308	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S14S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCGAGGGCTCCTGGGGCCCCG	0.672																																						uc003efq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(40-42)TCC>TCT		poly (ADP-ribose) polymerase family, member 14							15.0	18.0	17.0					3																	122399772		1877	4093	5970	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122399772C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.42C>T	3.37:g.122399772C>T							p.S14S	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	1	101	+			14					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.42C>T	CCDS46894.1																																																																																				PASS	0.672	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		19	17	19	17	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739139	138739139	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:138739139A>T	ENST00000329447.5	-	1	629	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	122								p.L122Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCCACTTCCAGCCCGGCAGA	0.632																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(364-366)CTG>CAG		proline rich 23B							50.0	52.0	51.0					3																	138739139		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739139A>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.365T>A	3.37:g.138739139A>T	ENSP00000328768:p.Leu122Gln						p.L122Q	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	630	-			122					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.365T>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283140	0.23392	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.69	-0.952	0.10366	.	0.512841	0.14705	N	0.303306	T	0.53238	0.1784	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.40813	-0.9543	9	0.59425	D	0.04	.	5.6252	0.17478	0.5318:0.0:0.4682:0.0	.	122	Q6ZRT6	PR23B_HUMAN	Q	122	.	ENSP00000328768:L122Q	L	-	2	0	PRR23B	140221829	0.017000	0.18338	0.001000	0.08648	0.003000	0.03518	0.952000	0.29149	-0.203000	0.10251	0.260000	0.18958	CTG		PASS	0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		65	329	65	329	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482713	169482713	+	IGR	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:169482713C>A	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGGCGGCAGGCCGAGGCTTTT	0.612																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							20.0	23.0	22.0					3																	169482713		876	1991	2867	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482713C>A	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482713C>A								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.136G>T	CCDS3206.1																																																																																				PASS	0.612	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		14	170	14	170	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169540309	169540309	+	Silent	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:169540309A>T	ENST00000340806.6	+	1	600	c.600A>T	c.(598-600)atA>atT	p.I200I		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	200								p.I200I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAACAAAATAGGTGCCATCC	0.512																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)ATA>ATT		leucine-rich repeats and IQ motif containing 4							90.0	92.0	91.0					3																	169540309		1875	4111	5986	SO:0001819	synonymous_variant	344657							g.chr3:169540309A>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.600A>T	3.37:g.169540309A>T							p.I200I	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	600	+			200			LRR 8.			Silent	SNP	ENST00000340806.6	37	c.600A>T	CCDS46951.1																																																																																				PASS	0.512	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		128	761	128	761	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169644948	169644948	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:169644948G>T	ENST00000428432.2	+	6	1287	c.898G>T	c.(898-900)Gtt>Ttt	p.V300F	SAMD7_ENST00000335556.3_Missense_Mutation_p.V300F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	300								p.V300F(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTGCCCTCCAGTTCCTCGACC	0.507																																						uc003fgd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(898-900)GTT>TTT		sterile alpha motif domain containing 7							48.0	49.0	48.0					3																	169644948		2199	4293	6492	SO:0001583	missense	344658							g.chr3:169644948G>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.898G>T	3.37:g.169644948G>T	ENSP00000391299:p.Val300Phe					SAMD7_uc003fge.2_Missense_Mutation_p.V300F|SAMD7_uc011bpo.1_Missense_Mutation_p.V201F	p.V300F	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1165	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		300						Missense_Mutation	SNP	ENST00000428432.2	37	c.898G>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	2.866	-0.235143	0.05983	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.48201	0.82;0.82	6.16	3.42	0.39159	.	1.447410	0.04161	N	0.323098	T	0.30230	0.0758	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.24835	-1.0149	10	0.07644	T	0.81	5.395	4.5265	0.11983	0.128:0.2375:0.5202:0.1142	.	300	Q7Z3H4	SAMD7_HUMAN	F	300	ENSP00000391299:V300F;ENSP00000334668:V300F	ENSP00000334668:V300F	V	+	1	0	SAMD7	171127642	0.000000	0.05858	0.020000	0.16555	0.000000	0.00434	-0.758000	0.04766	0.471000	0.27319	-0.959000	0.02639	GTT		PASS	0.507	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		468	163	468	163	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179052178	179052178	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr3:179052178A>T	ENST00000326361.3	+	7	1871	c.1426A>T	c.(1426-1428)Ata>Tta	p.I476L	ZNF639_ENST00000496856.1_Missense_Mutation_p.I476L|ZNF639_ENST00000484866.1_Missense_Mutation_p.I476L	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	476					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I476L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAGGGAATTAATAAGTCACCT	0.308																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1426-1428)ATA>TTA		zinc finger protein 639							54.0	54.0	54.0					3																	179052178		2202	4299	6501	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179052178A>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1426A>T	3.37:g.179052178A>T	ENSP00000325634:p.Ile476Leu					ZNF639_uc003fjr.1_Missense_Mutation_p.I476L	p.I476L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1769	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		476			C2H2-type 8.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1426A>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	3.303	-0.142549	0.06669	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.01538	4.79;4.79;4.79	6.08	0.574	0.17368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.454570	0.23139	N	0.051492	T	0.00967	0.0032	N	0.12831	0.26	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.49624	-0.8920	10	0.10111	T	0.7	.	6.1645	0.20382	0.4062:0.286:0.0:0.3078	.	476	Q9UID6	ZN639_HUMAN	L	476	ENSP00000417740:I476L;ENSP00000325634:I476L;ENSP00000418766:I476L	ENSP00000325634:I476L	I	+	1	0	ZNF639	180534872	0.417000	0.25432	1.000000	0.80357	0.991000	0.79684	-0.491000	0.06474	0.456000	0.26937	0.533000	0.62120	ATA		PASS	0.308	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		119	50	119	50	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69796922	69796922	+	Silent	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr4:69796922T>C	ENST00000251566.4	-	4	1065	c.1035A>G	c.(1033-1035)ttA>ttG	p.L345L	UGT2A3_ENST00000420231.2_Silent_p.L56L	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	345					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L345L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATTGGCTCCTAATGTGGATG	0.378																																						uc003hef.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1033-1035)TTA>TTG		UDP glucuronosyltransferase 2 family,							163.0	141.0	149.0					4																	69796922		2203	4300	6503	SO:0001819	synonymous_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796922T>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1035A>G	4.37:g.69796922T>C						UGT2A3_uc010ihp.1_RNA	p.L345L	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			4	1066	-			345			Extracellular (Potential).		Q9H6S4	Silent	SNP	ENST00000251566.4	37	c.1035A>G	CCDS3525.1																																																																																				PASS	0.378	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		32	13	32	13	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69798458	69798458	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr4:69798458T>C	ENST00000251566.4	-	3	914	c.884A>G	c.(883-885)cAg>cGg	p.Q295R	UGT2A3_ENST00000420231.2_Missense_Mutation_p.Q6R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	295					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.Q295R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGAACTCTGGACAAAATT	0.338																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(883-885)CAG>CGG		UDP glucuronosyltransferase 2 family,							109.0	112.0	111.0					4																	69798458		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798458T>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.884A>G	4.37:g.69798458T>C	ENSP00000251566:p.Gln295Arg					UGT2A3_uc010ihp.1_RNA	p.Q295R	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			3	915	-			295			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.884A>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	6.971	0.549203	0.13374	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61980	0.06;3.28	2.08	0.825	0.18824	.	0.140597	0.49305	D	0.000156	T	0.64713	0.2623	M	0.89030	3	0.25339	N	0.988965	B	0.24618	0.107	B	0.32980	0.156	T	0.62718	-0.6795	10	0.87932	D	0	.	5.1688	0.15099	0.0:0.168:0.0:0.832	.	295	Q6UWM9	UD2A3_HUMAN	R	295;6	ENSP00000251566:Q295R;ENSP00000440115:Q6R	ENSP00000251566:Q295R	Q	-	2	0	UGT2A3	69833047	1.000000	0.71417	0.036000	0.18154	0.216000	0.24613	4.845000	0.62853	0.080000	0.16959	0.459000	0.35465	CAG		PASS	0.338	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		64	36	64	36	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90169135	90169135	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr4:90169135G>T	ENST00000609438.1	-	2	2645	c.2127C>A	c.(2125-2127)atC>atA	p.I709I	GPRIN3_ENST00000333209.4_Silent_p.I709I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	709								p.I709I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AATGGTTCTGGATCGCGATTC	0.473																																						uc003hsm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2125-2127)ATC>ATA		G protein-regulated inducer of neurite outgrowth							82.0	80.0	81.0					4																	90169135		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90169135G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2127C>A	4.37:g.90169135G>T							p.I709I	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2646	-		Hepatocellular(203;0.114)	709					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.2127C>A	CCDS34030.1																																																																																				PASS	0.473	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		71	26	71	26	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177138064	177138064	+	Missense_Mutation	SNP	C	C	A	rs144451873		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr4:177138064C>A	ENST00000296525.3	-	6	880	c.767G>T	c.(766-768)gGa>gTa	p.G256V	ASB5_ENST00000512254.1_Missense_Mutation_p.G203V	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	256					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G256V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GATATCTGCTCCAAATTCTAG	0.413																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(766-768)GGA>GTA		ankyrin repeat and SOCS box-containing protein							198.0	187.0	191.0					4																	177138064		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138064C>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.767G>T	4.37:g.177138064C>A	ENSP00000296525:p.Gly256Val					ASB5_uc003iup.1_Missense_Mutation_p.G203V	p.G256V	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	783	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	256			ANK 6.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.767G>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786271	0.90282	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;D	0.81908	-0.21;-1.55	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.095243	0.64402	D	0.000001	D	0.94440	0.8211	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95691	0.8740	10	0.87932	D	0	-30.5097	19.6512	0.95812	0.0:1.0:0.0:0.0	.	256;203	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	V	256;203	ENSP00000296525:G256V;ENSP00000422877:G203V	ENSP00000296525:G256V	G	-	2	0	ASB5	177375058	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.133000	0.77259	2.712000	0.92718	0.591000	0.81541	GGA		PASS	0.413	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			98	57	98	57	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185606641	185606641	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr4:185606641G>T	ENST00000314970.6	+	10	1608	c.1175G>T	c.(1174-1176)gGc>gTc	p.G392V	PRIMPOL_ENST00000512834.1_Missense_Mutation_p.G391V|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.G392V|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.G263V	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	392					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.G392V(1)									AATAAAGATGGCATTAAAGGA	0.338																																						uc003iwk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1174-1176)GGC>GTC		coiled-coil domain containing 111							184.0	178.0	180.0					4																	185606641		2203	4300	6503	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185606641G>T	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1175G>T	4.37:g.185606641G>T	ENSP00000313816:p.Gly392Val					CCDC111_uc003iwj.2_Missense_Mutation_p.G391V|CCDC111_uc003iwl.2_Missense_Mutation_p.G392V|CCDC111_uc003iwm.2_Missense_Mutation_p.G263V|CCDC111_uc003iwn.2_Missense_Mutation_p.G132V	p.G392V	NM_152683	NP_689896	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	10	1608	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	392					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.1175G>T	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187331	0.57909	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.36157	1.29;1.27;1.29;1.28	5.4	3.5	0.40072	.	0.174965	0.49916	D	0.000135	T	0.48259	0.1490	M	0.72894	2.215	0.58432	D	0.999997	D;D;P	0.63880	0.993;0.987;0.945	P;P;P	0.55871	0.786;0.726;0.626	T	0.47235	-0.9133	10	0.72032	D	0.01	-22.3228	7.8593	0.29501	0.1958:0.0:0.8042:0.0	.	263;392;391	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	V	392;263;392;391;66	ENSP00000313816:G392V;ENSP00000421913:G263V;ENSP00000420860:G392V;ENSP00000425316:G391V	ENSP00000313816:G392V	G	+	2	0	CCDC111	185843635	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	1.685000	0.37659	0.692000	0.31613	0.561000	0.74099	GGC		PASS	0.338	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		54	39	54	39	---	---	---	---
TARS	6897	broad.mit.edu	37	5	33461126	33461126	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:33461126G>A	ENST00000265112.3	+	12	1681	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	TARS_ENST00000541634.1_Missense_Mutation_p.R353K|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.R457K|TARS_ENST00000414361.2_Missense_Mutation_p.R336K|TARS_ENST00000455217.2_Missense_Mutation_p.R490K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	457					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.R457K(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CGGGTACGAAGATTCCAACAG	0.488																																						uc003jhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1369-1371)AGA>AAA		threonyl-tRNA synthetase	L-Threonine(DB00156)						87.0	87.0	87.0					5																	33461126		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461126G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1370G>A	5.37:g.33461126G>A	ENSP00000265112:p.Arg457Lys					TARS_uc011cob.1_Missense_Mutation_p.R445K|TARS_uc010iup.1_Missense_Mutation_p.R398K|TARS_uc011coc.1_Missense_Mutation_p.R478K|TARS_uc003jhz.2_Missense_Mutation_p.R353K|TARS_uc011cod.1_Missense_Mutation_p.R336K	p.R457K	NM_152295	NP_689508	P26639	SYTC_HUMAN			12	1665	+			457					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1370G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116764	0.94385	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	M	0.65498	2.005	0.80722	D	1	P;D;P;D	0.71674	0.942;0.998;0.627;0.998	P;D;P;D	0.69479	0.597;0.964;0.552;0.964	T	0.77469	-0.2576	10	0.40728	T	0.16	0.5278	20.8794	0.99867	0.0:0.0:1.0:0.0	.	336;490;353;457	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	K	457;457;353;490;336	ENSP00000424387:R457K;ENSP00000265112:R457K;ENSP00000438469:R353K;ENSP00000387710:R490K;ENSP00000394291:R336K	ENSP00000265112:R457K	R	+	2	0	TARS	33496883	1.000000	0.71417	0.210000	0.23637	0.981000	0.71138	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.488	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		213	109	213	109	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45461983	45461983	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:45461983G>A	ENST00000303230.4	-	3	1033	c.976C>T	c.(976-978)Cca>Tca	p.P326S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	326					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P326T(2)|p.P326S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAATCTGGTGGGAAGTCCTGC	0.408																																						uc003jok.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(976-978)CCA>TCA		hyperpolarization activated cyclic							72.0	71.0	71.0					5																	45461983		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45461983G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.976C>T	5.37:g.45461983G>A	ENSP00000307342:p.Pro326Ser						p.P326S	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	1001	-			326			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.976C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309026	0.95629	.	.	ENSG00000164588	ENST00000303230	D	0.98313	-4.86	5.73	5.73	0.89815	Ion transport (1);	0.208456	0.33959	N	0.004387	D	0.97801	0.9278	M	0.64997	1.995	0.80722	D	1	P	0.35192	0.489	B	0.41691	0.364	D	0.98034	1.0378	10	0.87932	D	0	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	326	O60741	HCN1_HUMAN	S	326	ENSP00000307342:P326S	ENSP00000307342:P326S	P	-	1	0	HCN1	45497740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.857000	0.99534	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.408	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		38	26	38	26	---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72192363	72192363	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:72192363G>A	ENST00000337273.5	+	19	2648	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	TNPO1_ENST00000523768.1_Missense_Mutation_p.G691E|TNPO1_ENST00000454282.1_Missense_Mutation_p.G691E|TNPO1_ENST00000506351.2_Missense_Mutation_p.G733E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	741					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.G733E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TGGGCAATTGGAGAAATCTCC	0.423																																						uc003kck.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(2221-2223)GGA>GAA		transportin 1 isoform 1							57.0	55.0	55.0					5																	72192363		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72192363G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2222G>A	5.37:g.72192363G>A	ENSP00000336712:p.Gly741Glu					TNPO1_uc011csj.1_Missense_Mutation_p.G691E|TNPO1_uc003kch.2_Missense_Mutation_p.G733E|TNPO1_uc003kci.3_Missense_Mutation_p.G733E|TNPO1_uc003kcg.3_Missense_Mutation_p.G733E	p.G741E	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	19	2369	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	741					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2222G>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104183	0.94245	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88573	0.6473	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91362	0.5112	10	0.87932	D	0	-14.5491	20.1208	0.97960	0.0:0.0:1.0:0.0	.	691;741	Q92973-3;Q92973	.;TNPO1_HUMAN	E	741;691;691;733;252	ENSP00000336712:G741E;ENSP00000398524:G691E;ENSP00000428899:G691E;ENSP00000425118:G733E	ENSP00000336712:G741E	G	+	2	0	TNPO1	72228119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.411000	0.97342	2.758000	0.94735	0.655000	0.94253	GGA		PASS	0.423	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		53	21	53	21	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80503102	80503102	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:80503102C>T	ENST00000265080.4	+	21	3072	c.3005C>T	c.(3004-3006)tCg>tTg	p.S1002L	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1002	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1002L(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAGTCCTTGTCGGCCATGGAG	0.572																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(3004-3006)TCG>TTG		Ras protein-specific guanine							107.0	93.0	97.0					5																	80503102		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80503102C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3005C>T	5.37:g.80503102C>T	ENSP00000265080:p.Ser1002Leu					RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	p.S1002L	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	21	3005	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1002			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3005C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964092	0.92791	.	.	ENSG00000113319	ENST00000265080	T	0.34667	1.35	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.060708	0.64402	D	0.000002	T	0.61160	0.2325	M	0.84585	2.705	0.80722	D	1	D	0.61080	0.989	P	0.57468	0.821	T	0.67783	-0.5581	10	0.59425	D	0.04	.	18.4707	0.90773	0.0:1.0:0.0:0.0	.	1002	O14827	RGRF2_HUMAN	L	1002	ENSP00000265080:S1002L	ENSP00000265080:S1002L	S	+	2	0	RASGRF2	80538858	1.000000	0.71417	0.987000	0.45799	0.692000	0.40212	7.818000	0.86416	2.462000	0.83206	0.555000	0.69702	TCG		PASS	0.572	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		79	35	79	35	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90074835	90074835	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:90074835G>T	ENST00000405460.2	+	64	13099	c.13003G>T	c.(13003-13005)Gtt>Ttt	p.V4335F	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4335	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V4335F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTCTGCATGTTGAAATCCT	0.478																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(13003-13005)GTT>TTT		G protein-coupled receptor 98 precursor							74.0	75.0	75.0					5																	90074835		1960	4149	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074835G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13003G>T	5.37:g.90074835G>T	ENSP00000384582:p.Val4335Phe					GPR98_uc003kjt.2_Missense_Mutation_p.V2041F|GPR98_uc003kjw.2_5'Flank	p.V4335F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13099	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4335			Extracellular (Potential).|Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13003G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032225	0.54790	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.50548	0.74	5.8	-0.0927	0.13655	Na-Ca exchanger/integrin-beta4 (2);	0.361840	0.31624	N	0.007335	T	0.43853	0.1266	M	0.76838	2.35	0.38659	D	0.952024	B	0.32010	0.351	B	0.33890	0.172	T	0.34551	-0.9824	10	0.72032	D	0.01	.	5.3839	0.16208	0.5693:0.1434:0.2873:0.0	.	4335	Q8WXG9	GPR98_HUMAN	F	4335	ENSP00000384582:V4335F	ENSP00000296619:V4335F	V	+	1	0	GPR98	90110591	0.001000	0.12720	0.000000	0.03702	0.329000	0.28539	-0.221000	0.09202	-0.233000	0.09797	0.650000	0.86243	GTT		PASS	0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		68	33	68	33	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90101179	90101179	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:90101179A>T	ENST00000405460.2	+	72	14836	c.14740A>T	c.(14740-14742)Aca>Tca	p.T4914S	GPR98_ENST00000425867.2_Missense_Mutation_p.T575S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4914					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T4914S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGAGAGGCACATATGGAGC	0.468																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(14740-14742)ACA>TCA		G protein-coupled receptor 98 precursor							98.0	93.0	95.0					5																	90101179		1878	4111	5989	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90101179A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14740A>T	5.37:g.90101179A>T	ENSP00000384582:p.Thr4914Ser					GPR98_uc003kjt.2_Missense_Mutation_p.T2620S|GPR98_uc003kjw.2_Missense_Mutation_p.T575S	p.T4914S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	72	14836	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4914			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14740A>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	6.497	0.459894	0.12342	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35048	1.7;1.33	5.8	4.57	0.56435	.	0.285012	0.35555	N	0.003126	T	0.25791	0.0628	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20052	0.024;0.005;0.041	B;B;B	0.23716	0.03;0.006;0.048	T	0.09552	-1.0669	9	.	.	.	.	3.6397	0.08162	0.6951:0.0:0.1215:0.1834	.	575;4914;575	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	S	4914;4914;575	ENSP00000384582:T4914S;ENSP00000392618:T575S	.	T	+	1	0	GPR98	90136935	0.543000	0.26434	0.961000	0.40146	0.119000	0.20118	1.039000	0.30266	2.203000	0.70933	0.459000	0.35465	ACA		PASS	0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		49	22	49	22	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118485124	118485124	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:118485124G>T	ENST00000311085.8	+	18	3682	c.3602G>T	c.(3601-3603)cGa>cTa	p.R1201L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1201L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1201								p.R1201L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTACTATTACGAAGTGTGGAC	0.478																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3601-3603)CGA>CTA		Dmx-like 1							129.0	133.0	132.0					5																	118485124		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118485124G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3602G>T	5.37:g.118485124G>T	ENSP00000309690:p.Arg1201Leu					DMXL1_uc010jcl.1_Missense_Mutation_p.R1201L	p.R1201L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3783	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1201						Missense_Mutation	SNP	ENST00000311085.8	37	c.3602G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309427	0.81247	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01484	4.84;4.84	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.13243	0.0321	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00059	-1.2167	10	0.87932	D	0	-9.841	19.8805	0.96895	0.0:0.0:1.0:0.0	.	1201;1201	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1201	ENSP00000309690:R1201L;ENSP00000439479:R1201L	ENSP00000309690:R1201L	R	+	2	0	DMXL1	118513023	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.778000	0.95560	0.655000	0.94253	CGA		PASS	0.478	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		155	68	155	68	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127674728	127674728	+	Silent	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:127674728A>T	ENST00000508053.1	-	32	4343	c.3369T>A	c.(3367-3369)ccT>ccA	p.P1123P	FBN2_ENST00000508989.1_Silent_p.P1090P|FBN2_ENST00000262464.4_Silent_p.P1123P|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1123	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1123P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGAGGTCAGGAGAAATCC	0.458																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3367-3369)CCT>CCA		fibrillin 2 precursor							90.0	80.0	83.0					5																	127674728		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674728A>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3369T>A	5.37:g.127674728A>T						FBN2_uc003kuv.2_Silent_p.P1090P	p.P1123P	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	26	3808	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1123			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3369T>A	CCDS34222.1																																																																																				PASS	0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		97	36	97	36	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128326129	128326129	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:128326129T>G	ENST00000262462.4	+	4	1951	c.941T>G	c.(940-942)cTt>cGt	p.L314R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.L314R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L314R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	314					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L314R(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATTGGAGAACTTTGTCGCTAC	0.338																																						uc003kuy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)CTT>CGT		solute carrier family 27 (fatty acid							112.0	106.0	108.0					5																	128326129		2202	4299	6501	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128326129T>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.941T>G	5.37:g.128326129T>G	ENSP00000262462:p.Leu314Arg					SLC27A6_uc003kuz.2_Missense_Mutation_p.L314R	p.L314R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	5	1337	+		all_cancers(142;0.0483)|Prostate(80;0.055)	314					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.941T>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157686	0.78114	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.061042	0.64402	D	0.000002	T	0.72882	0.3516	M	0.91872	3.25	0.54753	D	0.999986	D	0.60575	0.988	D	0.64687	0.928	T	0.80144	-0.1505	9	.	.	.	-3.4687	15.0468	0.71833	0.0:0.0:0.0:1.0	.	314	Q9Y2P4	S27A6_HUMAN	R	133;314;314;314	ENSP00000421759:L133R;ENSP00000262462:L314R;ENSP00000378684:L314R;ENSP00000421024:L314R	.	L	+	2	0	SLC27A6	128354028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.288000	0.76882	0.528000	0.53228	CTT		PASS	0.338	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		62	16	62	16	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175437	140175437	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:140175437T>A	ENST00000526136.1	+	1	888	c.888T>A	c.(886-888)gaT>gaA	p.D296E	PCDHA2_ENST00000520672.2_Missense_Mutation_p.D296E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D296E	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D296E(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCATAGATCCCATCTCAG	0.428																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(886-888)GAT>GAA		protocadherin alpha 2 isoform 1 precursor							87.0	86.0	86.0					5																	140175437		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175437T>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.888T>A	5.37:g.140175437T>A	ENSP00000431748:p.Asp296Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.D296E|PCDHA2_uc011czy.1_Missense_Mutation_p.D296E	p.D296E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	994	+			296			Cadherin 3.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.888T>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	10.56	1.383945	0.25031	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.64803	-0.12;-0.12;-0.12	4.02	1.64	0.23874	Cadherin (4);Cadherin-like (1);	0.172828	0.26907	U	0.021886	T	0.62708	0.2450	M	0.86097	2.795	0.09310	N	0.999997	B;B;B	0.25486	0.056;0.127;0.056	B;B;B	0.34242	0.085;0.178;0.135	T	0.57271	-0.7840	10	0.41790	T	0.15	.	4.7036	0.12839	0.0:0.178:0.2982:0.5238	.	296;296;296	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	E	296	ENSP00000430584:D296E;ENSP00000367372:D296E;ENSP00000431748:D296E	ENSP00000367372:D296E	D	+	3	2	PCDHA2	140155621	0.000000	0.05858	0.142000	0.22268	0.873000	0.50193	-2.782000	0.00772	0.245000	0.21373	0.528000	0.53228	GAT		PASS	0.428	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		193	59	193	59	---	---	---	---
FBLL1	345630	broad.mit.edu	37	5	167957133	167957133	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:167957133C>T	ENST00000338333.4	+	1	1013	c.624C>T	c.(622-624)gcC>gcT	p.A208A				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	208					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.A208A(1)									CCCACCGCGCCGGCCGCGATC	0.662																																						uc011dep.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)GCC>GCT		RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1;          EC=2.1.1.-;							20.0	19.0	19.0					5																	167957133		876	1990	2866	SO:0001819	synonymous_variant	345630							g.chr5:167957133C>T			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.624C>T	5.37:g.167957133C>T							p.A113A	NR_024356						1	552	+									Silent	SNP	ENST00000338333.4	37	c.339C>T																																																																																					PASS	0.662	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		3	38	3	38	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176005554	176005554	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:176005554G>C	ENST00000510636.1	+	16	2037	c.1763G>C	c.(1762-1764)gGc>gCc	p.G588A	CDHR2_ENST00000506348.1_Missense_Mutation_p.G588A|CDHR2_ENST00000261944.5_Missense_Mutation_p.G588A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G588A(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTTAGCGGCTCCTACAAC	0.617																																						uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1762-1764)GGC>GCC		protocadherin LKC precursor							84.0	65.0	72.0					5																	176005554		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005554G>C	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1763G>C	5.37:g.176005554G>C	ENSP00000424565:p.Gly588Ala					CDHR2_uc003men.1_Missense_Mutation_p.G588A	p.G588A	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			16	1829	+			588			Extracellular (Potential).|Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1763G>C	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819597	0.50633	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60548	0.18;0.18;0.18	5.33	5.33	0.75918	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.46328	0.1387	L	0.29908	0.895	0.58432	D	0.999999	P	0.36162	0.54	B	0.33196	0.159	T	0.37407	-0.9707	9	0.20046	T	0.44	-41.2148	19.0161	0.92896	0.0:0.0:1.0:0.0	.	588	Q9BYE9	CDHR2_HUMAN	A	588	ENSP00000424565:G588A;ENSP00000261944:G588A;ENSP00000421078:G588A	ENSP00000261944:G588A	G	+	2	0	CDHR2	175938160	1.000000	0.71417	0.976000	0.42696	0.259000	0.26198	4.933000	0.63484	2.504000	0.84457	0.542000	0.68232	GGC		PASS	0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		83	26	83	26	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180377501	180377501	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr5:180377501C>A	ENST00000340184.4	+	8	1666	c.1460C>A	c.(1459-1461)tCc>tAc	p.S487Y	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.S280Y|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.S362Y|BTNL8_ENST00000511704.1_Missense_Mutation_p.S371Y|BTNL8_ENST00000533815.2_Missense_Mutation_p.S303Y	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	487					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S487Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGAGTCCTCCTCACAGGCA	0.522																																						uc003mmp.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1459-1461)TCC>TAC		butyrophilin-like 8 isoform 2 precursor																																				SO:0001583	missense	79908					integral to membrane		g.chr5:180377501C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1460C>A	5.37:g.180377501C>A	ENSP00000342197:p.Ser487Tyr					BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S362Y|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S371Y|BTNL8_uc011dhh.1_Missense_Mutation_p.S303Y	p.S487Y	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1694	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	487			Cytoplasmic (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1460C>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192332	0.06259	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.61980	1.24;0.55;0.52;0.06;0.13	1.28	-1.04	0.10068	.	.	.	.	.	T	0.27384	0.0672	N	0.08118	0	0.09310	N	1	B;B;P	0.46064	0.388;0.388;0.872	B;B;B	0.27262	0.049;0.049;0.078	T	0.22382	-1.0218	9	0.49607	T	0.09	.	2.8852	0.05659	0.0:0.4127:0.3591:0.2282	.	362;371;487	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	Y	487;362;371;280;303	ENSP00000342197:S487Y;ENSP00000383543:S362Y;ENSP00000425207:S371Y;ENSP00000427441:S280Y;ENSP00000435098:S303Y	ENSP00000342197:S487Y	S	+	2	0	BTNL8	180310107	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.257000	0.01180	-0.363000	0.08101	0.423000	0.28283	TCC		PASS	0.522	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		88	25	88	25	---	---	---	---
SNRNP48	154007	broad.mit.edu	37	6	7602899	7602899	+	Silent	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:7602899A>G	ENST00000342415.5	+	6	698	c.639A>G	c.(637-639)gcA>gcG	p.A213A		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	213					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)	p.A213A(1)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AAATCCTGGCAGAAGTACGAG	0.308																																						uc003mxr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)GCA>GCG		U11/U12 snRNP 48K							69.0	73.0	72.0					6																	7602899		2203	4300	6503	SO:0001819	synonymous_variant	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7602899A>G	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.639A>G	6.37:g.7602899A>G						SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	p.A213A	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			6	698	+			213					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Silent	SNP	ENST00000342415.5	37	c.639A>G	CCDS4502.1																																																																																				PASS	0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		7	27	7	27	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054278	29054278	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:29054278G>T	ENST00000377173.2	-	1	812	c.748C>A	c.(748-750)Ctc>Atc	p.L250I		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L250I(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCATAAAAGAGGGACACCACA	0.443																																						uc003nlx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(748-750)CTC>ATC		olfactory receptor, family 2, subfamily B,							101.0	83.0	89.0					6																	29054278		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054278G>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.748C>A	6.37:g.29054278G>T	ENSP00000366378:p.Leu250Ile						p.L250I	NM_001005226	NP_001005226					1	813	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.748C>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053584	0.36277	.	.	ENSG00000204703	ENST00000377173	T	0.00256	8.42	3.89	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36519	U	0.002548	T	0.00073	0.0002	L	0.41415	1.275	0.09310	N	0.999998	P	0.49358	0.923	P	0.50590	0.645	T	0.27839	-1.0062	10	0.41790	T	0.15	.	11.107	0.48210	0.0:0.0:0.4365:0.5635	.	250	O76000	OR2B3_HUMAN	I	250	ENSP00000366378:L250I	ENSP00000366378:L250I	L	-	1	0	OR2B3	29162257	0.000000	0.05858	0.986000	0.45419	0.969000	0.65631	-2.570000	0.00914	0.572000	0.29383	0.573000	0.79308	CTC		PASS	0.443	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			38	82	38	82	---	---	---	---
GTF2H4	2968	broad.mit.edu	37	6	30881678	30881678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:30881678C>A	ENST00000259895.4	+	14	1530	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000376316.2_Nonsense_Mutation_p.S436*|VARS2_ENST00000542001.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	436					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S436*(1)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTCGAGAACTCGGCCAAGCGG	0.632								Nucleotide excision repair (NER)																														uc003nsa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1306-1308)TCG>TAG	NER	general transcription factor IIH, polypeptide 4,							25.0	24.0	24.0					6																	30881678		1508	2709	4217	SO:0001587	stop_gained	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30881678C>A	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1307C>A	6.37:g.30881678C>A	ENSP00000259895:p.Ser436*					GTF2H4_uc003nsb.1_Nonsense_Mutation_p.S274*|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	p.S436*	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			14	1514	+			436					B4DTJ5|Q76KU4	Nonsense_Mutation	SNP	ENST00000259895.4	37	c.1307C>A	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	C	40	8.352185	0.98772	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	.	.	.	5.86	5.86	0.93980	.	0.358303	0.23793	U	0.044520	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-7.6758	17.6719	0.88221	0.0:1.0:0.0:0.0	.	.	.	.	X	436	.	ENSP00000259895:S436X	S	+	2	0	GTF2H4	30989657	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	3.366000	0.52343	2.778000	0.95560	0.591000	0.81541	TCG		PASS	0.632	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		20	48	20	48	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34951166	34951166	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:34951166A>G	ENST00000360359.3	+	7	1114	c.976A>G	c.(976-978)Atc>Gtc	p.I326V	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	326					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.I326V(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCCACCTCTCATCTCCAGTAT	0.413																																						uc003ojx.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(976-978)ATC>GTC		ankyrin repeat and sterile alpha motif domain							130.0	150.0	143.0					6																	34951166		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34951166A>G	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.976A>G	6.37:g.34951166A>G	ENSP00000353518:p.Ile326Val					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	p.I326V	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			7	1118	+			326					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.976A>G	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	A	5.956	0.360420	0.11296	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	T	0.40756	1.02	5.92	1.07	0.20283	.	0.475988	0.17876	N	0.159004	T	0.05227	0.0139	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.05833	T	0.94	-5.9093	5.0429	0.14467	0.5482:0.1874:0.2644:0.0	.	326	Q92625	ANS1A_HUMAN	V	326	ENSP00000353518:I326V	ENSP00000353518:I326V	I	+	1	0	ANKS1A	35059144	0.035000	0.19736	0.998000	0.56505	0.879000	0.50718	0.280000	0.18790	0.198000	0.20407	0.528000	0.53228	ATC		PASS	0.413	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		127	179	127	179	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38704871	38704871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:38704871C>A	ENST00000359357.3	+	4	394	c.140C>A	c.(139-141)tCg>tAg	p.S47*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S47*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S264*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	47					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S47*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGATGCGTCGAAAGGACTC	0.388																																						uc003ooe.1																			2	Substitution - Nonsense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(139-141)TCG>TAG		dynein, axonemal, heavy polypeptide 8							100.0	99.0	99.0					6																	38704871		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38704871C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.140C>A	6.37:g.38704871C>A	ENSP00000352312:p.Ser47*						p.S47*	NM_001371	NP_001362					4	740	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.140C>A		.	.	.	.	.	.	.	.	.	.	C	38	6.856071	0.97889	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.2	4.3	0.51218	.	0.429062	0.22235	N	0.062764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5733	0.61860	0.0:0.703:0.297:0.0	.	.	.	.	X	252;252;47;47	.	ENSP00000333363:S252X	S	+	2	0	DNAH8	38812849	0.271000	0.24162	0.226000	0.23910	0.911000	0.54048	1.717000	0.37991	1.264000	0.44198	0.591000	0.81541	TCG		PASS	0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		57	107	57	107	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	48036181	48036181	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:48036181C>T	ENST00000339488.4	-	1	244	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PTCHD4_ENST00000543600.1_Missense_Mutation_p.E54K	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	71						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.E71K(1)									ACCAGGCGCTCCAGGTCGCCC	0.657																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(160-162)GAG>AAG		hypothetical protein LOC442213							33.0	38.0	36.0					6																	48036181		1973	4157	6130	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036181C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.211G>A	6.37:g.48036181C>T	ENSP00000341914:p.Glu71Lys					C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.E71K	p.E54K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	245	-			71					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.160G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.476326|4.476326	0.84640|0.84640	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.93488|.	-3.23;0.38|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68035|0.68035	0.2957|0.2957	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.963;0.993|.	P;D|.	0.68192|.	0.543;0.956|.	T|T	0.69409|0.69409	-0.5153|-0.5153	10|5	0.22706|.	T|.	0.39|.	.|.	17.4076|17.4076	0.87477|0.87477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	71;54|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	K|E	71;54|70	ENSP00000341914:E71K;ENSP00000439864:E54K|.	ENSP00000341914:E71K|.	E|G	-|-	1|2	0|0	C6orf138|C6orf138	48144140|48144140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.394000|7.394000	0.79862|0.79862	2.080000|2.080000	0.62538|0.62538	0.558000|0.558000	0.71614|0.71614	GAG|GGA		PASS	0.657	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		66	86	66	86	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69666693	69666693	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:69666693G>A	ENST00000370598.1	+	8	2338	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	506	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R506Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGAGCAGCGATGCCCTGGT	0.428																																						uc003pev.3																			1	Substitution - Missense(1)	p.R506R(1)	lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1516-1518)CGA>CAA		brain-specific angiogenesis inhibitor 3							114.0	115.0	114.0					6																	69666693		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69666693G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1517G>A	6.37:g.69666693G>A	ENSP00000359630:p.Arg506Gln					BAI3_uc010kak.2_Missense_Mutation_p.R506Q	p.R506Q	NM_001704	NP_001695	O60242	BAI3_HUMAN			8	1965	+		all_lung(197;0.212)	506			TSP type-1 4.|Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1517G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263444	0.95399	.	.	ENSG00000135298	ENST00000370598	T	0.52983	0.64	5.19	5.19	0.71726	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.53617	1.68	0.80722	D	1	P	0.48503	0.911	B	0.33620	0.167	T	0.15292	-1.0442	10	0.27785	T	0.31	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	506	O60242	BAI3_HUMAN	Q	506	ENSP00000359630:R506Q	ENSP00000359630:R506Q	R	+	2	0	BAI3	69723414	1.000000	0.71417	0.980000	0.43619	0.965000	0.64279	7.594000	0.82698	2.595000	0.87683	0.650000	0.86243	CGA		PASS	0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			53	62	53	62	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118887133	118887133	+	Silent	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:118887133T>C	ENST00000368491.3	-	3	1200	c.579A>G	c.(577-579)acA>acG	p.T193T	CEP85L_ENST00000368488.5_Silent_p.T196T|CEP85L_ENST00000360290.3_Silent_p.T91T|CEP85L_ENST00000419517.2_Silent_p.T193T|CEP85L_ENST00000392500.3_Silent_p.T196T|CEP85L_ENST00000472713.1_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	193						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T193T(1)									TCAGTTGTGATGTTAAAGCCT	0.453																																						uc003pxz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(577-579)ACA>ACG		chromosome 6 open reading frame 204 isoform a							169.0	163.0	165.0					6																	118887133		2203	4300	6503	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118887133T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.579A>G	6.37:g.118887133T>C						C6orf204_uc003pya.1_Silent_p.T196T|C6orf204_uc003pyb.2_Silent_p.T193T|C6orf204_uc011ebj.1_Silent_p.T91T|C6orf204_uc003pyc.2_Silent_p.T196T|C6orf204_uc011ebl.1_Silent_p.T91T	p.T193T	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1167	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	193					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.579A>G	CCDS43498.1																																																																																				PASS	0.453	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		93	131	93	131	---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608771	127608771	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:127608771G>A	ENST00000368314.1	+	3	1437	c.1013G>A	c.(1012-1014)gGt>gAt	p.G338D	ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000608991.1_Missense_Mutation_p.G337D|RNF146_ENST00000610153.1_Missense_Mutation_p.G338D|RNF146_ENST00000309649.3_Missense_Mutation_p.G337D|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	338					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G337D(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTAGCAGGGGGTGGAACAGTG	0.468																																						uc003qav.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1012-1014)GGT>GAT		ring finger protein 146							75.0	72.0	73.0					6																	127608771		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608771G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.1013G>A	6.37:g.127608771G>A	ENSP00000357297:p.Gly338Asp					RNF146_uc003qat.2_Missense_Mutation_p.G337D|RNF146_uc003qau.2_Missense_Mutation_p.G337D|RNF146_uc003qaw.2_Missense_Mutation_p.G337D	p.G338D	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	1172	+			338					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.1013G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214175	0.22289	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25085	1.82;1.82;1.82	5.85	4.97	0.65823	.	0.243627	0.32488	N	0.006032	T	0.12774	0.0310	L	0.50333	1.59	0.43622	D	0.996002	P	0.50443	0.935	B	0.35413	0.202	T	0.03545	-1.1026	10	0.87932	D	0	-22.2993	15.3207	0.74120	0.0:0.1391:0.8609:0.0	.	338	Q9NTX7	RN146_HUMAN	D	338;337;337	ENSP00000357297:G338D;ENSP00000349253:G337D;ENSP00000309365:G337D	ENSP00000309365:G337D	G	+	2	0	RNF146	127650464	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	4.080000	0.57620	1.462000	0.47948	0.585000	0.79938	GGT		PASS	0.468	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		39	98	39	98	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132910270	132910270	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:132910270T>A	ENST00000258034.2	-	1	607	c.556A>T	c.(556-558)Atg>Ttg	p.M186L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	186					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.M186L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ACACAAGGCATCTCTTCCAGC	0.512																																						uc003qdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(556-558)ATG>TTG		trace amine associated receptor 5							43.0	44.0	44.0					6																	132910270		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910270T>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.556A>T	6.37:g.132910270T>A	ENSP00000258034:p.Met186Leu						p.M186L	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	608	-	Breast(56;0.112)		186			Extracellular (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.556A>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	1.067	-0.671232	0.03403	.	.	ENSG00000135569	ENST00000258034	T	0.35973	1.28	5.58	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.184924	0.35708	N	0.003038	T	0.02970	0.0088	N	0.04705	-0.18	0.20489	N	0.999892	B	0.02656	0.0	B	0.11329	0.006	T	0.40421	-0.9564	10	0.02654	T	1	-16.401	2.1449	0.03784	0.24:0.0711:0.2483:0.4407	.	186	O14804	TAAR5_HUMAN	L	186	ENSP00000258034:M186L	ENSP00000258034:M186L	M	-	1	0	TAAR5	132951963	0.021000	0.18746	0.996000	0.52242	0.911000	0.54048	0.131000	0.15870	0.517000	0.28361	0.533000	0.62120	ATG		PASS	0.512	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		34	47	34	47	---	---	---	---
REPS1	85021	broad.mit.edu	37	6	139247564	139247564	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:139247564C>A	ENST00000450536.2	-	10	1886	c.1312G>T	c.(1312-1314)Gat>Tat	p.D438Y	REPS1_ENST00000258062.5_Missense_Mutation_p.D438Y|REPS1_ENST00000367663.4_Intron|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	438					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.D386Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGTTAGAATCAAATTGGGTC	0.388																																						uc003qii.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1312-1314)GAT>TAT		RALBP1 associated Eps domain containing 1							83.0	79.0	80.0					6																	139247564		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139247564C>A		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1312G>T	6.37:g.139247564C>A	ENSP00000392065:p.Asp438Tyr					REPS1_uc003qig.3_Intron|REPS1_uc011edr.1_Missense_Mutation_p.D438Y|REPS1_uc003qij.2_Intron|REPS1_uc003qik.2_Intron	p.D438Y	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	10	1891	-			438					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.1312G>T		.	.	.	.	.	.	.	.	.	.	C	16.16	3.044370	0.55110	.	.	ENSG00000135597	ENST00000450536;ENST00000258062;ENST00000367668;ENST00000530255	T;T	0.36340	1.26;1.26	5.47	5.47	0.80525	.	0.096264	0.64402	D	0.000001	T	0.53642	0.1809	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.53429	-0.8440	10	0.62326	D	0.03	-18.1794	19.6959	0.96026	0.0:1.0:0.0:0.0	.	438;438	Q96D71-3;Q96D71	.;REPS1_HUMAN	Y	438;438;386;25	ENSP00000392065:D438Y;ENSP00000258062:D438Y	ENSP00000258062:D438Y	D	-	1	0	REPS1	139289257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.729000	0.93468	0.467000	0.42956	GAT		PASS	0.388	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			6	23	6	23	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145124203	145124203	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:145124203G>A	ENST00000367545.3	+	64	9277	c.9277G>A	c.(9277-9279)Gtc>Atc	p.V3093I	UTRN_ENST00000367526.4_Missense_Mutation_p.V648I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3093	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.V3093I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAACTATGATGTCTGCCAGAG	0.343																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9277-9279)GTC>ATC		utrophin							115.0	110.0	112.0					6																	145124203		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145124203G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9277G>A	6.37:g.145124203G>A	ENSP00000356515:p.Val3093Ile						p.V3093I	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	64	9369	+		Ovarian(120;0.218)	3093			Interaction with SYNM.|ZZ-type.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9277G>A	CCDS34547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.493|7.493	0.651157|0.651157	0.14516|0.14516	.|.	.|.	ENSG00000152818|ENSG00000152818	ENST00000367524|ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	.|D;D;D;D;D	.|0.90620	.|-2.7;-2.7;-2.7;-2.7;-2.7	5.63|5.63	4.75|4.75	0.60458|0.60458	.|Zinc finger, ZZ-type (4);	.|0.000000	.|0.42821	.|D	.|0.000645	T|T	0.63721|0.63721	0.2535|0.2535	N|N	0.01076|0.01076	-1.035|-1.035	0.36791|0.36791	D|D	0.884838|0.884838	.|B	.|0.18166	.|0.026	.|B	.|0.30943	.|0.122	T|T	0.61540|0.61540	-0.7042|-0.7042	5|9	.|.	.|.	.|.	.|.	14.9382|14.9382	0.70973|0.70973	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	.|3093	.|P46939	.|UTRO_HUMAN	I|I	136|3093;648;52;52;52;18	.|ENSP00000356515:V3093I;ENSP00000356496:V648I;ENSP00000398923:V52I;ENSP00000404205:V52I;ENSP00000387927:V18I	.|.	M|V	+|+	3|1	0|0	UTRN|UTRN	145165896|145165896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.045000|4.045000	0.57368|0.57368	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	ATG|GTC		PASS	0.343	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			20	34	20	34	---	---	---	---
LRP11	84918	broad.mit.edu	37	6	150141797	150141797	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:150141797A>G	ENST00000239367.2	-	7	1396	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	LRP11_ENST00000546019.1_Missense_Mutation_p.L209P	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	464						integral component of membrane (GO:0016021)		p.L464P(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GAGAAGCAGCAGAGCAGTGAT	0.498																																						uc003qng.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CTG>CCG		low density lipoprotein receptor-related protein							92.0	86.0	88.0					6																	150141797		2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150141797A>G	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1391T>C	6.37:g.150141797A>G	ENSP00000239367:p.Leu464Pro						p.L464P	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	7	1715	-		Ovarian(120;0.0907)	464			Helical; (Potential).		Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.1391T>C	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996955	0.74818	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	T;D	0.97186	3.29;-4.28	5.41	4.25	0.50352	.	0.228508	0.35936	N	0.002891	D	0.96599	0.8890	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96843	0.9619	10	0.87932	D	0	-3.9196	11.1711	0.48571	0.9276:0.0:0.0723:0.0	.	464	Q86VZ4	LRP11_HUMAN	P	464;209	ENSP00000239367:L464P;ENSP00000440196:L209P	ENSP00000239367:L464P	L	-	2	0	LRP11	150183490	1.000000	0.71417	0.874000	0.34290	0.831000	0.47069	7.009000	0.76347	0.902000	0.36520	0.455000	0.32223	CTG		PASS	0.498	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		21	15	21	15	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151914353	151914353	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:151914353G>T	ENST00000239374.7	+	8	1504	c.1405G>T	c.(1405-1407)Gtt>Ttt	p.V469F	CCDC170_ENST00000367290.5_Missense_Mutation_p.V469F	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	469								p.V469F(1)									AGAGCAGCTGGTTCGTCTTGA	0.458																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GTT>TTT		hypothetical protein LOC80129							95.0	89.0	91.0					6																	151914353		1930	4139	6069	SO:0001583	missense	80129							g.chr6:151914353G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1405G>T	6.37:g.151914353G>T	ENSP00000239374:p.Val469Phe						p.V469F	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	8	1494	+		Ovarian(120;0.126)	469					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1405G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588166	0.66105	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10860	2.84;2.83	5.73	4.86	0.63082	.	0.244522	0.36932	N	0.002332	T	0.14356	0.0347	M	0.78916	2.43	0.46149	D	0.998894	P	0.46987	0.888	P	0.48400	0.576	T	0.01225	-1.1413	10	0.56958	D	0.05	-13.7001	15.279	0.73767	0.0674:0.0:0.9326:0.0	.	469	Q8IYT3	CF097_HUMAN	F	469	ENSP00000239374:V469F;ENSP00000356259:V469F	ENSP00000239374:V469F	V	+	1	0	C6orf97	151956046	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.104000	0.50306	1.564000	0.49628	-0.137000	0.14449	GTT		PASS	0.458	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		47	85	47	85	---	---	---	---
PACRG	135138	broad.mit.edu	37	6	163510373	163510373	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:163510373G>T	ENST00000337019.3	+	5	770	c.546G>T	c.(544-546)gtG>gtT	p.V182V	PACRG_ENST00000366888.2_Silent_p.V182V|PACRG_ENST00000366889.2_Silent_p.V182V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	182					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.V182V(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTGAGATGGTGGGCAAGGCCT	0.468																																						uc003qua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)GTG>GTT		parkin co-regulated gene protein isoform 1							149.0	126.0	134.0					6																	163510373		2203	4300	6503	SO:0001819	synonymous_variant	135138							g.chr6:163510373G>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.546G>T	6.37:g.163510373G>T						PACRG_uc003qub.2_Silent_p.V182V|PACRG_uc003quc.2_Silent_p.V182V	p.V182V	NM_152410	NP_689623	Q96M98	PACRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)	5	770	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	182					E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	c.546G>T	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.103|9.103	1.004655|1.004655	0.19199|0.19199	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000542936	.|.	.|.	.|.	5.53|5.53	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.38480|0.38480	0.1042|0.1042	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24119|0.24119	-1.0169|-1.0169	4|4	.|.	.|.	.|.	-23.7904|-23.7904	5.5122|5.5122	0.16886|0.16886	0.0667:0.1253:0.548:0.26|0.0667:0.1253:0.548:0.26	.|.	.|.	.|.	.|.	W|L	98|40	.|.	.|.	G|W	+|+	1|2	0|0	PACRG|PACRG	163430363|163430363	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	1.949000|1.949000	0.40313|0.40313	0.320000|0.320000	0.23234|0.23234	-0.898000|-0.898000	0.02899|0.02899	GGG|TGG		PASS	0.468	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410		83	113	83	113	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167728850	167728850	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:167728850G>T	ENST00000230256.3	+	8	1459	c.1284G>T	c.(1282-1284)gtG>gtT	p.V428V	UNC93A_ENST00000366829.2_Silent_p.V386V	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V428V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGGGCTTGTGGAGTGCGTGG	0.537																																						uc003qvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1282-1284)GTG>GTT		unc-93 homolog A isoform 1							223.0	240.0	234.0					6																	167728850		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728850G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1284G>T	6.37:g.167728850G>T						UNC93A_uc003qvr.2_Silent_p.V386V	p.V428V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1459	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	428					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1284G>T	CCDS5300.1																																																																																				PASS	0.537	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		240	619	240	619	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167753874	167753874	+	Missense_Mutation	SNP	C	C	A	rs371348357		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:167753874C>A	ENST00000239587.5	+	3	574	c.486C>A	c.(484-486)caC>caA	p.H162Q		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	162	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.H162Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCAAACACCTGAAGCACA	0.502																																						uc003qvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(484-486)CAC>CAA		tubulin tyrosine ligase-like family, member 2							156.0	154.0	154.0					6																	167753874		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753874C>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.486C>A	6.37:g.167753874C>A	ENSP00000239587:p.His162Gln					TTLL2_uc011egr.1_RNA	p.H162Q	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	574	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	162			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.486C>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	9.026	0.986176	0.18889	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.05513	3.43	3.37	0.366	0.16136	.	0.343265	0.24848	N	0.035120	T	0.07052	0.0179	M	0.74881	2.28	0.09310	N	0.99999	D	0.69078	0.997	P	0.61477	0.889	T	0.11542	-1.0583	10	0.62326	D	0.03	.	3.7709	0.08642	0.0:0.294:0.4698:0.2362	.	162	Q9BWV7	TTLL2_HUMAN	Q	162;89	ENSP00000239587:H162Q	ENSP00000239587:H162Q	H	+	3	2	TTLL2	167673864	0.701000	0.27806	0.017000	0.16124	0.063000	0.16089	0.684000	0.25364	0.203000	0.20529	0.484000	0.47621	CAC		PASS	0.502	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		51	71	51	71	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871073	170871073	+	Silent	SNP	G	G	A	rs551889211	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:170871073G>A	ENST00000392092.2	+	3	528	c.249G>A	c.(247-249)caG>caA	p.Q83Q	TBP_ENST00000230354.6_Silent_p.Q83Q|TBP_ENST00000540980.1_Silent_p.Q63Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	83	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q83Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.597													g|||	22	0.00439297	0.0038	0.0	5008	,	,		13574	0.002		0.0149	False		,,,				2504	0.0					uc003qxt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)CAG>CAA		TATA box binding protein							12.0	17.0	15.0					6																	170871073		1950	3833	5783	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871073G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.249G>A	6.37:g.170871073G>A						TBP_uc003qxu.2_Silent_p.Q83Q|TBP_uc011ehf.1_Silent_p.Q63Q|TBP_uc011ehg.1_Silent_p.Q83Q	p.Q83Q	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	481	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	83			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.249G>A	CCDS5315.1																																																																																				PASS	0.597	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		2	1	2	1	---	---	---	---
TTYH3	80727	broad.mit.edu	37	7	2692645	2692645	+	Splice_Site	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:2692645G>T	ENST00000258796.7	+	9	1225		c.e9+1		TTYH3_ENST00000403167.1_Splice_Site|TTYH3_ENST00000407643.1_Splice_Site	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.?(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GGCCACTAAGGTGAGGGGCTG	0.597																																						uc003smp.2																			1	Unknown(1)		lung(1)		0						c.e9+1		tweety 3							21.0	19.0	19.0					7																	2692645		2173	4254	6427	SO:0001630	splice_region_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2692645G>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1020+1G>T	7.37:g.2692645G>T						TTYH3_uc010ksn.2_Splice_Site_p.K60_splice|TTYH3_uc003smq.2_Splice_Site_p.K169_splice	p.K340_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	9	1207	+		Ovarian(82;0.0112)						A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Splice_Site	SNP	ENST00000258796.7	37	c.1020_splice	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736654	0.30774	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.574	0.87943	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH3	2659171	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.406000	0.80017	2.245000	0.73994	0.655000	0.94253	.		PASS	0.597	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	Intron	7	11	7	11	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11486857	11486857	+	Splice_Site	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:11486857C>A	ENST00000423059.4	-	12	3051	c.2800G>T	c.(2800-2802)Gga>Tga	p.G934*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	934	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G934*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTATTCTTACCAACAAGAGTG	0.428										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2800-2802)GGA>TGA		thrombospondin, type I, domain containing 7A							76.0	69.0	71.0					7																	11486857		1934	4151	6085	SO:0001630	splice_region_variant	221981					integral to membrane		g.chr7:11486857C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2800+1G>T	7.37:g.11486857C>A		HNSCC(18;0.044)					p.G934*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	12	3052	-			934			TSP type-1 9.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000423059.4	37	c.2800G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	43	10.369862	0.99392	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.88	5.88	0.94601	.	0.045965	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	.	.	.	X	934	.	.	G	-	1	0	THSD7A	11453382	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	GGA		PASS	0.428	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	Nonsense_Mutation	35	33	35	33	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11509548	11509548	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:11509548G>A	ENST00000423059.4	-	9	2577	c.2326C>T	c.(2326-2328)Cca>Tca	p.P776S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	776	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P776S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACTATATGGGGTCACAATA	0.463										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2326-2328)CCA>TCA		thrombospondin, type I, domain containing 7A							63.0	56.0	58.0					7																	11509548		1917	4134	6051	SO:0001583	missense	221981					integral to membrane		g.chr7:11509548G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2326C>T	7.37:g.11509548G>A	ENSP00000406482:p.Pro776Ser	HNSCC(18;0.044)					p.P776S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	9	2578	-			776			TSP type-1 8.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2326C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037308	0.75617	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.55234	0.53	5.56	3.72	0.42706	.	0.093137	0.85682	N	0.000000	T	0.56746	0.2006	L	0.53249	1.67	0.80722	D	1	P	0.45569	0.861	P	0.56216	0.794	T	0.53436	-0.8439	10	0.07644	T	0.81	.	11.6128	0.51072	0.0679:0.1251:0.8069:0.0	.	776	Q9UPZ6	THS7A_HUMAN	S	776	ENSP00000406482:P776S	ENSP00000262042:P776S	P	-	1	0	THSD7A	11476073	1.000000	0.71417	0.454000	0.27019	0.937000	0.57800	5.668000	0.68074	0.788000	0.33755	0.650000	0.86243	CCA		PASS	0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	8	5	8	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11521576	11521576	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:11521576G>A	ENST00000423059.4	-	7	2107	c.1856C>T	c.(1855-1857)gCc>gTc	p.A619V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	619					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A619V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGGAAGATGGCATCTCTGCA	0.493										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1855-1857)GCC>GTC		thrombospondin, type I, domain containing 7A							84.0	86.0	86.0					7																	11521576		2064	4212	6276	SO:0001583	missense	221981					integral to membrane		g.chr7:11521576G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1856C>T	7.37:g.11521576G>A	ENSP00000406482:p.Ala619Val	HNSCC(18;0.044)					p.A619V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2108	-			619			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.1856C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726012	0.69074	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59638	0.25	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	L	0.49350	1.555	0.80722	D	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46721	-0.9171	10	0.30078	T	0.28	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	619	Q9UPZ6	THS7A_HUMAN	V	619	ENSP00000406482:A619V	ENSP00000262042:A619V	A	-	2	0	THSD7A	11488101	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.738000	0.68613	2.824000	0.97209	0.655000	0.94253	GCC		PASS	0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		4	122	4	122	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18705957	18705957	+	Missense_Mutation	SNP	C	C	T	rs190601824	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:18705957C>T	ENST00000432645.2	+	11	1580	c.1580C>T	c.(1579-1581)aCt>aTt	p.T527I	HDAC9_ENST00000406451.4_Missense_Mutation_p.T527I|HDAC9_ENST00000405010.3_Missense_Mutation_p.T527I|HDAC9_ENST00000401921.1_Missense_Mutation_p.T486I|HDAC9_ENST00000406072.1_Missense_Mutation_p.T514I|HDAC9_ENST00000456174.2_Missense_Mutation_p.T499I|HDAC9_ENST00000417496.2_Missense_Mutation_p.T525I|HDAC9_ENST00000428307.2_Missense_Mutation_p.T483I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T530I|HDAC9_ENST00000524023.1_Missense_Mutation_p.T450I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	527					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T530I(2)|p.T527I(1)|p.T525I(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCAACAGCACTAGGAGCGAC	0.557											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1579-1581)ACT>ATT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						99.0	112.0	108.0					7																	18705957		2061	4204	6265	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705957C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1580C>T	7.37:g.18705957C>T	ENSP00000410337:p.Thr527Ile		OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_uc003sue.2_Missense_Mutation_p.T527I|HDAC9_uc011jyd.1_Missense_Mutation_p.T527I|HDAC9_uc003sui.2_Missense_Mutation_p.T530I|HDAC9_uc003suj.2_Missense_Mutation_p.T486I|HDAC9_uc011jya.1_Missense_Mutation_p.T524I|HDAC9_uc003sua.1_Missense_Mutation_p.T505I|HDAC9_uc011jyb.1_Missense_Mutation_p.T483I|HDAC9_uc003sud.1_Missense_Mutation_p.T527I|HDAC9_uc011jyc.1_Missense_Mutation_p.T486I|HDAC9_uc003suf.1_Missense_Mutation_p.T558I|HDAC9_uc010kud.1_Missense_Mutation_p.T530I|HDAC9_uc011jye.1_Missense_Mutation_p.T499I|HDAC9_uc011jyf.1_Missense_Mutation_p.T450I|HDAC9_uc010kue.1_Intron	p.T527I	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			11	1621	+	all_lung(11;0.187)		527					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1580C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624577	0.28889	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023	T;T;T;T;T;T;T;T;T;T	0.58797	0.89;0.91;0.32;0.9;0.89;0.31;0.32;0.32;0.91;0.9	5.6	3.52	0.40303	.	0.588385	0.16295	N	0.220712	T	0.28962	0.0719	N	0.03608	-0.345	0.24389	N	0.994758	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17667	0.0;0.0;0.0;0.0;0.0;0.0;0.023;0.001;0.0;0.0;0.001;0.0;0.013	B;B;B;B;B;B;B;B;B;B;B;B;B	0.12837	0.0;0.0;0.001;0.001;0.0;0.0;0.008;0.002;0.001;0.0;0.002;0.0;0.004	T	0.09443	-1.0674	10	0.32370	T	0.25	-7.0732	4.9681	0.14100	0.0:0.6008:0.2317:0.1675	.	450;499;527;514;525;530;486;530;527;499;527;527;505	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	I	525;528;527;527;483;514;486;527;530;499;450	ENSP00000401669:T525I;ENSP00000384382:T527I;ENSP00000384657:T527I;ENSP00000395655:T483I;ENSP00000384017:T514I;ENSP00000383912:T486I;ENSP00000410337:T527I;ENSP00000408617:T530I;ENSP00000388568:T499I;ENSP00000430036:T450I	ENSP00000262069:T528I	T	+	2	0	HDAC9	18672482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.228000	0.42981	1.336000	0.45506	0.650000	0.86243	ACT		PASS	0.557	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			126	95	126	95	---	---	---	---
SCRN1	9805	broad.mit.edu	37	7	29980442	29980442	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:29980442C>A	ENST00000426154.1	-	5	771	c.595G>T	c.(595-597)Gca>Tca	p.A199S	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.A199S|SCRN1_ENST00000425819.2_Missense_Mutation_p.A131S|SCRN1_ENST00000434476.2_Missense_Mutation_p.A219S|SCRN1_ENST00000242059.5_Missense_Mutation_p.A199S	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	199					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.A199S(1)|p.A219S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GGATGCTCTGCATCCATCTTA	0.473																																						uc010kvp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(595-597)GCA>TCA		secernin 1 isoform c							132.0	134.0	133.0					7																	29980442		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29980442C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.595G>T	7.37:g.29980442C>A	ENSP00000409068:p.Ala199Ser					SCRN1_uc011jzy.1_Missense_Mutation_p.A131S|SCRN1_uc003tak.2_Missense_Mutation_p.A199S|SCRN1_uc011jzz.1_Missense_Mutation_p.A199S|SCRN1_uc011kaa.1_Missense_Mutation_p.A219S|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.A22S	p.A199S	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			4	799	-			199					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.595G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	5.375	0.254400	0.10185	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.58	4.7	0.59300	.	0.569456	0.17678	N	0.165737	T	0.22282	0.0537	L	0.60957	1.885	0.27288	N	0.957917	B;B;B	0.16166	0.016;0.016;0.006	B;B;B	0.26310	0.043;0.068;0.043	T	0.14952	-1.0454	9	.	.	.	-2.4955	9.0602	0.36429	0.0:0.7739:0.1473:0.0788	.	219;219;199	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	S	199;199;131;3;199;219;199	ENSP00000242059:A199S;ENSP00000409068:A199S;ENSP00000414245:A131S;ENSP00000386872:A199S;ENSP00000388942:A219S;ENSP00000413184:A199S	.	A	-	1	0	SCRN1	29946967	0.040000	0.19996	0.006000	0.13384	0.668000	0.39293	1.839000	0.39220	1.354000	0.45846	0.591000	0.81541	GCA		PASS	0.473	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		6	454	6	454	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31132311	31132311	+	Missense_Mutation	SNP	G	G	T	rs139752068		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:31132311G>T	ENST00000304166.4	+	13	1297	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Q336H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Q336H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Q315H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	336					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.Q336H(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGAAACTTCAGTCTCCAGACA	0.458																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1006-1008)CAG>CAT		adenylate cyclase activating polypeptide 1							115.0	106.0	109.0					7																	31132311		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31132311G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1008G>T	7.37:g.31132311G>T	ENSP00000306620:p.Gln336His					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Q315H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Q336H|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.Q38H	p.Q336H	NM_001118	NP_001109	P41586	PACR_HUMAN			13	1231	+			336			Cytoplasmic (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1008G>T	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.090775|2.090775	0.36855|0.36855	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489|ENST00000436116	T;T;T;T|.	0.38240|.	1.15;1.22;1.22;1.22|.	5.72|5.72	2.94|2.94	0.34122|0.34122	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.32255|0.32255	0.0823|0.0823	N|N	0.10809|0.10809	0.05|0.05	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.76494|.	0.999;0.997;0.999;0.997;0.997|.	D;D;D;D;D|.	0.79108|.	0.986;0.979;0.992;0.95;0.968|.	T|T	0.03993|0.03993	-1.0986|-1.0986	10|5	0.52906|.	T|.	0.07|.	.|.	7.7893|7.7893	0.29110|0.29110	0.1493:0.1342:0.7164:0.0|0.1493:0.1342:0.7164:0.0	.|.	336;336;336;315;336|.	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586|.	.;.;.;.;PACR_HUMAN|.	H|F	336;107;315;336;336|53	ENSP00000306620:Q336H;ENSP00000387335:Q315H;ENSP00000379514:Q336H;ENSP00000386395:Q336H|.	ENSP00000306620:Q336H|.	Q|V	+|+	3|1	2|0	ADCYAP1R1|ADCYAP1R1	31098836|31098836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.716000|0.716000	0.25836|0.25836	0.449000|0.449000	0.26747|0.26747	-0.302000|-0.302000	0.09304|0.09304	CAG|GTC		PASS	0.458	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		100	86	100	86	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760803	92760803	+	Missense_Mutation	SNP	C	C	A	rs202145032		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:92760803C>A	ENST00000318238.4	-	5	5698	c.4482G>T	c.(4480-4482)gaG>gaT	p.E1494D	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1494D|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1494D	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1494					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.E1494D(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAGTACTGCTCTATTTTGG	0.448																																						uc003umh.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4480-4482)GAG>GAT		sterile alpha motif domain containing 9-like							142.0	133.0	136.0					7																	92760803		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92760803C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4482G>T	7.37:g.92760803C>A	ENSP00000326247:p.Glu1494Asp					SAMD9L_uc003umj.1_Missense_Mutation_p.E1494D|SAMD9L_uc003umi.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1494D|SAMD9L_uc003umk.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1494D|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1494D|SAMD9L_uc011khx.1_3'UTR	p.E1494D	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5698	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1494					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4482G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	1.545	-0.540762	0.04053	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.26957	1.7;1.7;1.7	4.77	2.87	0.33458	.	0.284699	0.28671	N	0.014537	T	0.13543	0.0328	L	0.32530	0.975	0.09310	N	0.999992	B	0.18013	0.025	B	0.18561	0.022	T	0.26985	-1.0087	10	0.11182	T	0.66	-12.7535	2.5297	0.04700	0.3269:0.4169:0.1592:0.097	.	1494	Q8IVG5	SAM9L_HUMAN	D	1494;1494;1494;316	ENSP00000326247:E1494D;ENSP00000405760:E1494D;ENSP00000408796:E1494D	ENSP00000326247:E1494D	E	-	3	2	SAMD9L	92598739	0.000000	0.05858	0.681000	0.30009	0.059000	0.15707	-0.799000	0.04560	0.561000	0.29186	0.467000	0.42956	GAG		PASS	0.448	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		16	314	16	314	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94937448	94937448	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:94937448T>A	ENST00000222381.3	-	6	804	c.573A>T	c.(571-573)ttA>ttT	p.L191F	PON1_ENST00000542556.1_Missense_Mutation_p.L191F	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	191					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.L191F(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CCCAGGATTGTAAGTAGGGGT	0.393																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(571-573)TTA>TTT		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						127.0	106.0	113.0					7																	94937448		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937448T>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.573A>T	7.37:g.94937448T>A	ENSP00000222381:p.Leu191Phe					PON1_uc011kih.1_Missense_Mutation_p.L191F	p.L191F	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	670	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		191					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.573A>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	9.483	1.098635	0.20552	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.54071	0.59;0.59	5.04	-1.52	0.08637	Six-bladed beta-propeller, TolB-like (1);	0.239442	0.36101	N	0.002786	T	0.41766	0.1173	L	0.51422	1.61	0.19775	N	0.999953	B;B	0.27013	0.166;0.118	B;B	0.32624	0.092;0.149	T	0.41251	-0.9519	10	0.72032	D	0.01	-3.2349	5.8204	0.18524	0.0:0.2935:0.2427:0.4638	.	191;191	F5H4W9;P27169	.;PON1_HUMAN	F	191	ENSP00000222381:L191F;ENSP00000444854:L191F	ENSP00000222381:L191F	L	-	3	2	PON1	94775384	0.000000	0.05858	0.003000	0.11579	0.273000	0.26683	-0.304000	0.08199	-0.045000	0.13468	0.459000	0.35465	TTA		PASS	0.393	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		112	80	112	80	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98955993	98955993	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:98955993G>T	ENST00000262942.5	+	7	868	c.744G>T	c.(742-744)ccG>ccT	p.P248P	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Silent_p.P201P	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	248					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.P248P(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGTTCCTGCCGCTCCTAAGTG	0.468																																						uc003upx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(742-744)CCG>CCT		actin related protein 2/3 complex subunit 1A							162.0	139.0	147.0					7																	98955993		2203	4300	6503	SO:0001819	synonymous_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98955993G>T	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.744G>T	7.37:g.98955993G>T						ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Silent_p.P234P|ARPC1A_uc011kit.1_RNA	p.P248P	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	891	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		248			WD 5.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	ENST00000262942.5	37	c.744G>T	CCDS5660.1																																																																																				PASS	0.468	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		166	147	166	147	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99795708	99795708	+	Splice_Site	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:99795708A>G	ENST00000426455.1	+	12	1571		c.e12-1		STAG3_ENST00000394018.2_Splice_Site|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site|STAG3_ENST00000440830.1_Splice_Site	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.?(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTTTCTGCAGGACCGGATG	0.458																																						uc003utx.1																			1	Unknown(1)		lung(1)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.e12-2		stromal antigen 3							194.0	175.0	181.0					7																	99795708		2203	4300	6503	SO:0001630	splice_region_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795708A>G	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1165-1A>G	7.37:g.99795708A>G						STAG3_uc010lgs.1_Splice_Site_p.D177_splice|STAG3_uc011kjk.1_Splice_Site_p.D331_splice|STAG3_uc003uub.1_5'Flank	p.D389_splice	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			12	1320	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Splice_Site	SNP	ENST00000426455.1	37	c.1165_splice	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234677	0.79800	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3249	0.66512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG3	99633644	1.000000	0.71417	0.981000	0.43875	0.933000	0.57130	9.031000	0.93731	2.323000	0.78572	0.528000	0.53228	.		PASS	0.458	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	Intron	46	178	46	178	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350489	100350489	+	RNA	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:100350489A>G	ENST00000348028.3	+	0	2926				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T921A(2)		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)			GGAAAAACCCACCATCCCCAC	0.502																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2761-2763)ACC>GCC		zonadhesin isoform 3							344.0	395.0	379.0					7																	100350489		1861	4099	5960			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350489A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350489A>G						ZAN_uc003uwk.2_Missense_Mutation_p.T921A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.T921A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2926	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		921			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2761A>G		.	.	.	.	.	.	.	.	.	.	A	12.37	1.916472	0.33815	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.66460	-0.21;-0.21;-0.21	3.25	3.25	0.37280	.	.	.	.	.	T	0.74084	0.3670	L	0.52126	1.63	0.54753	D	0.999982	D;B	0.61080	0.989;0.107	D;B	0.70487	0.969;0.21	T	0.75382	-0.3337	9	0.72032	D	0.01	.	10.1318	0.42682	1.0:0.0:0.0:0.0	.	921;921	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	921	ENSP00000445943:T921A;ENSP00000445091:T921A;ENSP00000444427:T921A	ENSP00000423579:T921A	T	+	1	0	ZAN	100188425	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.182000	0.16900	1.436000	0.47453	0.533000	0.62120	ACC		PASS	0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		94	248	94	248	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173378	126173378	+	Silent	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:126173378C>G	ENST00000339582.2	-	9	2866	c.2058G>C	c.(2056-2058)gcG>gcC	p.A686A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.A686A|GRM8_ENST00000444921.2_Silent_p.A686A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	686					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A686A(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGAACTTGGGCGCTGTGACAG	0.507										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2056-2058)GCG>GCC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						95.0	82.0	86.0					7																	126173378		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173378C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2058G>C	7.37:g.126173378C>G		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A686A|GRM8_uc010lkz.1_RNA	p.A686A	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2369	-		Prostate(267;0.186)	686			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2058G>C	CCDS5794.1																																																																																				PASS	0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			49	40	49	40	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701539	143701539	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:143701539C>A	ENST00000408922.2	+	1	518	c.450C>A	c.(448-450)gcC>gcA	p.A150A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A150A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GTTCCTGGGCCATTGGCTTTG	0.552																																						uc003wdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)GCC>GCA		olfactory receptor, family 6, subfamily B,							83.0	83.0	83.0					7																	143701539		2129	4268	6397	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701539C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.450C>A	7.37:g.143701539C>A							p.A150A	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	450	+	Melanoma(164;0.0783)		150			Helical; Name=4; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.450C>A	CCDS43667.1																																																																																				PASS	0.552	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			53	24	53	24	---	---	---	---
TMEM176B	28959	broad.mit.edu	37	7	150489160	150489160	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:150489160T>C	ENST00000447204.2	-	6	1076	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q235R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q235R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q235R|TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q198R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q235R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	235					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.Q235R(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGAGCTCTGGCCACACAA	0.597																																						uc003wht.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)CAG>CGG		transmembrane protein 176B isoform a							115.0	96.0	102.0					7																	150489160		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150489160T>C	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.704A>G	7.37:g.150489160T>C	ENSP00000410269:p.Gln235Arg					TMEM176B_uc003whu.3_Missense_Mutation_p.Q235R|TMEM176B_uc003whv.3_Missense_Mutation_p.Q198R|TMEM176B_uc003whw.3_Missense_Mutation_p.Q235R	p.Q235R	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	870	-			235					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.704A>G	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.705349	0.00096	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.07021	3.35;3.35;3.35;3.35;3.35;3.23	3.98	1.58	0.23477	.	0.947772	0.08686	N	0.908650	T	0.03053	0.0090	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.44128	-0.9348	10	0.02654	T	1	-3.7936	5.4653	0.16639	0.0:0.2516:0.0:0.7484	.	198;235	E9PAV4;Q3YBM2	.;T176B_HUMAN	R	235;235;235;235;235;198;235	ENSP00000419258:Q235R;ENSP00000318409:Q235R;ENSP00000410269:Q235R;ENSP00000413531:Q235R;ENSP00000397810:Q235R;ENSP00000404831:Q198R	ENSP00000318409:Q235R	Q	-	2	0	TMEM176B	150120093	0.011000	0.17503	0.017000	0.16124	0.002000	0.02628	-0.024000	0.12435	0.105000	0.17753	-0.400000	0.06385	CAG		PASS	0.597	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		99	95	99	95	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157041102	157041102	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:157041102G>T	ENST00000348165.5	+	19	2882	c.2522G>T	c.(2521-2523)gGc>gTc	p.G841V		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	841	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G841V(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCCTTTGCAGGCTTCTTTCTT	0.468																																						uc010lqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(2521-2523)GGC>GTC		ubiquitin protein ligase E3C							97.0	99.0	98.0					7																	157041102		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041102G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2522G>T	7.37:g.157041102G>T	ENSP00000309198:p.Gly841Val					UBE3C_uc003wni.3_Missense_Mutation_p.G204V	p.G841V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2834	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	841			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.2522G>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906212	0.52333	.	.	ENSG00000009335	ENST00000348165	T	0.56941	0.43	5.74	5.74	0.90152	HECT (4);	0.084806	0.85682	D	0.000000	T	0.47358	0.1441	L	0.34521	1.04	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.22386	0.039;0.021	T	0.27502	-1.0072	10	0.33940	T	0.23	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	841;694	Q15386;B4DHJ9	UBE3C_HUMAN;.	V	841	ENSP00000309198:G841V	ENSP00000309198:G841V	G	+	2	0	UBE3C	156733863	1.000000	0.71417	0.983000	0.44433	0.194000	0.23727	9.502000	0.97981	2.702000	0.92279	0.655000	0.94253	GGC		PASS	0.468	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		149	356	149	356	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147734	43147734	+	RNA	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:43147734G>T	ENST00000522175.2	+	0	109							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.R36M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCTGCTGCAGGGGAAGCGGC	0.592																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)AGG>ATG		POTE ankyrin domain family, member A isoform 2							55.0	59.0	57.0					8																	43147734		2203	4300	6503			340441							g.chr8:43147734G>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147734G>T						POTEA_uc003xqa.1_Missense_Mutation_p.R36M	p.R36M	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	150	+			36					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.107G>T																																																																																					PASS	0.592	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		126	58	126	58	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52323825	52323825	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:52323825C>A	ENST00000356297.4	-	16	2147	c.2047G>T	c.(2047-2049)Gac>Tac	p.D683Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D683Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	683					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D683Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTTCCAAGTCCACAGTGAGC	0.507																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2047-2049)GAC>TAC		peroxidasin homolog-like precursor							55.0	56.0	56.0					8																	52323825		2020	4176	6196	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323825C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2047G>T	8.37:g.52323825C>A	ENSP00000348645:p.Asp683Tyr					PXDNL_uc003xqt.3_5'Flank	p.D683Y	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2148	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	683					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2047G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662381	0.29515	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.21;-0.23	4.46	3.58	0.41010	.	.	.	.	.	T	0.75591	0.3870	M	0.68317	2.08	0.37379	D	0.91194	D	0.64830	0.994	P	0.61201	0.885	T	0.79378	-0.1828	9	0.72032	D	0.01	.	10.2167	0.43173	0.0:0.9003:0.0:0.0997	.	683	A1KZ92	PXDNL_HUMAN	Y	683	ENSP00000348645:D683Y;ENSP00000444865:D683Y	ENSP00000348645:D683Y	D	-	1	0	PXDNL	52486378	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	5.137000	0.64789	0.863000	0.35553	-0.140000	0.14226	GAC		PASS	0.507	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		13	4	13	4	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69012004	69012004	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:69012004C>T	ENST00000288368.4	+	23	2918	c.2641C>T	c.(2641-2643)Ctt>Ttt	p.L881F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	881					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L881F(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCTACTGACCTTCAGAGTAA	0.358																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2641-2643)CTT>TTT		DEP domain containing 2 isoform a							136.0	128.0	131.0					8																	69012004		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69012004C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2641C>T	8.37:g.69012004C>T	ENSP00000288368:p.Leu881Phe					PREX2_uc003xxu.1_Missense_Mutation_p.L881F|PREX2_uc011lez.1_Missense_Mutation_p.L816F	p.L881F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			23	2668	+			881					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2641C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532280	0.45073	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35789	1.29	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.37128	0.0992	L	0.51422	1.61	0.80722	D	1	B;B;B	0.22983	0.078;0.0;0.001	B;B;B	0.29862	0.108;0.002;0.008	T	0.09250	-1.0683	10	0.32370	T	0.25	.	15.3612	0.74475	0.14:0.8599:0.0:0.0	.	881;881;881	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	881	ENSP00000288368:L881F	ENSP00000288368:L881F	L	+	1	0	PREX2	69174558	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.333000	0.52090	2.645000	0.89757	0.650000	0.86243	CTT		PASS	0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		4	187	4	187	---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70980718	70980718	+	Silent	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:70980718T>C	ENST00000276594.2	-	3	951	c.750A>G	c.(748-750)ccA>ccG	p.P250P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	250					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P250P(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCTACCTTCTGGAAGTTGAA	0.413																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(748-750)CCA>CCG		PR domain containing 14							95.0	92.0	93.0					8																	70980718		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980718T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.750A>G	8.37:g.70980718T>C							p.P250P	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		3	952	-	Breast(64;0.193)		250					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.750A>G	CCDS6206.1																																																																																				PASS	0.413	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			148	37	148	37	---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82572769	82572769	+	Missense_Mutation	SNP	C	C	T	rs202089380		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:82572769C>T	ENST00000256108.5	-	8	1165	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	IMPA1_ENST00000449740.2_Missense_Mutation_p.V293M|IMPA1_ENST00000311489.4_Silent_p.A197A|IMPA1_ENST00000523710.1_5'Flank	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	234					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)	p.V293M(1)|p.V234M(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCCATTAGCACGCCACCAGCT	0.418																																						uc003ych.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(700-702)GTG>ATG		inositol(myo)-1(or 4)-monophosphatase 1 isoform	Lithium(DB01356)						99.0	89.0	92.0					8																	82572769		2203	4299	6502	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82572769C>T		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.700G>A	8.37:g.82572769C>T	ENSP00000256108:p.Val234Met					IMPA1_uc011lfq.1_Missense_Mutation_p.V293M|IMPA1_uc011lfr.1_Silent_p.A197A	p.V234M	NM_005536	NP_005527	P29218	IMPA1_HUMAN			8	827	-			234					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.700G>A	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.171285|2.171285	0.38315|0.38315	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000256108;ENST00000449740	.|T;T	.|0.55413	.|0.52;0.52	4.23|4.23	2.44|2.44	0.29823|0.29823	.|.	.|0.134463	.|0.49916	.|D	.|0.000128	T|T	0.66636|0.66636	0.2809|0.2809	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.76494	.|0.999;0.994	.|D;P	.|0.65010	.|0.931;0.873	T|T	0.66697|0.66697	-0.5858|-0.5858	4|9	.|0.59425	.|D	.|0.04	-24.2958|-24.2958	10.1363|10.1363	0.42708|0.42708	0.0:0.8372:0.0:0.1628|0.0:0.8372:0.0:0.1628	.|.	.|293;234	.|B7Z6Q4;P29218	.|.;IMPA1_HUMAN	H|M	258|234;293	.|ENSP00000256108:V234M;ENSP00000408526:V293M	.|ENSP00000256108:V234M	R|V	-|-	2|1	0|0	IMPA1|IMPA1	82735324|82735324	0.988000|0.988000	0.35896|0.35896	0.068000|0.068000	0.19968|0.19968	0.266000|0.266000	0.26442|0.26442	2.836000|2.836000	0.48183|0.48183	0.437000|0.437000	0.26423|0.26423	-0.243000|-0.243000	0.11985|0.11985	CGT|GTG		PASS	0.418	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			86	31	86	31	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90996768	90996768	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:90996768C>T	ENST00000265433.3	-	1	176	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	NBN_ENST00000409330.1_5'Flank	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	8					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.A8T(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCCGGGCCCGCGGCGGGCAGC	0.706								Homologous recombination			OREG0018856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yej.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(3)|lung(1)	7						c.(22-24)GCG>ACG	Direct_reversal_of_damage|Homologous_recombination	nibrin							17.0	20.0	19.0					8																	90996768		2198	4294	6492	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90996768C>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.22G>A	8.37:g.90996768C>T	ENSP00000265433:p.Ala8Thr		OREG0018856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279	NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.A8T	p.A8T	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		1	132	-			8					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.22G>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340775	0.24339	.	.	ENSG00000104320	ENST00000265433;ENST00000452387;ENST00000519426	T;T	0.35789	1.29;1.29	3.72	2.84	0.33178	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.231325	0.35466	N	0.003184	T	0.27663	0.0680	M	0.71581	2.175	0.80722	D	1	P;P	0.48089	0.905;0.905	B;B	0.29524	0.103;0.103	T	0.14839	-1.0458	10	0.48119	T	0.1	-1.66	8.4444	0.32833	0.0:0.8868:0.0:0.1132	.	8;8	A6H8Y5;O60934	.;NBN_HUMAN	T	8	ENSP00000265433:A8T;ENSP00000430983:A8T	ENSP00000265433:A8T	A	-	1	0	NBN	91065944	0.024000	0.19004	0.174000	0.22961	0.018000	0.09664	1.083000	0.30815	0.895000	0.36342	0.460000	0.39030	GCG		PASS	0.706	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		16	36	16	36	---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103226340	103226340	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:103226340T>C	ENST00000251810.3	-	7	974	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RRM2B_ENST00000395912.2_Missense_Mutation_p.N192S|RRM2B_ENST00000519317.1_Missense_Mutation_p.N32S|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	244					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.N244S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	TGAAGGCTTATTTACTAAGTA	0.378								Modulation of nucleotide pools																														uc003ykn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(730-732)AAT>AGT	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							113.0	104.0	107.0					8																	103226340		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103226340T>C	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.731A>G	8.37:g.103226340T>C	ENSP00000251810:p.Asn244Ser					RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.N192S|RRM2B_uc010mbw.1_Missense_Mutation_p.N32S|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	p.N244S	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		7	975	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		244					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.731A>G	CCDS34932.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537149	0.65085	.	.	ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000519317;ENST00000395912	D;D;D	0.97041	-4.22;-4.22;-4.22	5.48	5.48	0.80851	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.137136	0.64402	D	0.000003	D	0.97645	0.9228	M	0.93854	3.465	0.80722	D	1	B;B;B	0.27971	0.196;0.003;0.02	B;B;B	0.32624	0.149;0.006;0.017	D	0.97483	1.0048	10	0.59425	D	0.04	.	15.8644	0.79052	0.0:0.0:0.0:1.0	.	32;192;244	Q7LG56-3;Q7LG56-2;Q7LG56	.;.;RIR2B_HUMAN	S	244;190;32;192	ENSP00000251810:N244S;ENSP00000430641:N32S;ENSP00000379248:N192S	ENSP00000251810:N244S	N	-	2	0	RRM2B	103295516	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.186000	0.72026	2.207000	0.71202	0.482000	0.46254	AAT		PASS	0.378	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			98	21	98	21	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476887	110476887	+	Missense_Mutation	SNP	G	G	A	rs375856975		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:110476887G>A	ENST00000378402.5	+	49	7930	c.7826G>A	c.(7825-7827)gGc>gAc	p.G2609D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2609					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2611D(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTCCCCTTGGCGAATTTTTT	0.438										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7825-7827)GGC>GAC		fibrocystin L precursor		G	ASP/GLY	0,3748		0,0,1874	98.0	99.0	99.0		7826	5.8	1.0	8		99	1,8221		0,1,4110	no	missense	PKHD1L1	NM_177531.4	94	0,1,5984	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	2609/4244	110476887	1,11969	1874	4111	5985	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476887G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7826G>A	8.37:g.110476887G>A	ENSP00000367655:p.Gly2609Asp	HNSCC(38;0.096)					p.G2609D	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7930	+			2609			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7826G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358803	0.82353	0.0	1.22E-4	ENSG00000205038	ENST00000378402	T	0.80566	-1.39	5.79	5.79	0.91817	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	M	0.92923	3.36	0.51767	D	0.999932	D	0.89917	1.0	D	0.78314	0.991	D	0.92993	0.6416	10	0.56958	D	0.05	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	2609	Q86WI1	PKHL1_HUMAN	D	2609	ENSP00000367655:G2609D	ENSP00000367655:G2609D	G	+	2	0	PKHD1L1	110546063	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.117000	0.89575	2.726000	0.93360	0.655000	0.94253	GGC		PASS	0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		186	53	186	53	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110477141	110477141	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:110477141G>A	ENST00000378402.5	+	49	8184	c.8080G>A	c.(8080-8082)Gga>Aga	p.G2694R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2694					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2696R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCTTATGTTGGAGGGTGGGG	0.463										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8080-8082)GGA>AGA		fibrocystin L precursor							118.0	118.0	118.0					8																	110477141		1866	4112	5978	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477141G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8080G>A	8.37:g.110477141G>A	ENSP00000367655:p.Gly2694Arg	HNSCC(38;0.096)					p.G2694R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8184	+			2694			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8080G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905578	0.72868	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	5.78	5.78	0.91487	.	0.118206	0.56097	D	0.000024	D	0.89458	0.6721	L	0.44542	1.39	0.32164	N	0.582599	P	0.50443	0.935	P	0.56088	0.791	D	0.90727	0.4639	10	0.59425	D	0.04	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2694	Q86WI1	PKHL1_HUMAN	R	2694	ENSP00000367655:G2694R	ENSP00000367655:G2694R	G	+	1	0	PKHD1L1	110546317	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.606000	0.61126	2.724000	0.93272	0.655000	0.94253	GGA		PASS	0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		144	57	144	57	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113308161	113308161	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:113308161C>A	ENST00000297405.5	-	54	8759	c.8515G>T	c.(8515-8517)Gtt>Ttt	p.V2839F	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2769F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2670F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2799F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2839	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2839F(1)|p.V2799F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATATACAACTGTGTCTCTA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8515-8517)GTT>TTT		CUB and Sushi multiple domains 3 isoform 1							118.0	104.0	108.0					8																	113308161		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308161C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8515G>T	8.37:g.113308161C>A	ENSP00000297405:p.Val2839Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.V2041F|CSMD3_uc003ynt.2_Missense_Mutation_p.V2799F|CSMD3_uc011lhx.1_Missense_Mutation_p.V2670F	p.V2839F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			54	8674	-			2839			Extracellular (Potential).|Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8515G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470830	0.84533	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.89687	0.6787	H	0.95917	3.74	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.94	D;D;P	0.91635	0.999;0.999;0.749	D	0.92655	0.6136	10	0.66056	D	0.02	.	18.9718	0.92718	0.0:1.0:0.0:0.0	.	2670;2839;2799	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2799;2839;2109;2670;2769	ENSP00000345799:V2799F;ENSP00000297405:V2839F;ENSP00000341558:V2109F;ENSP00000412263:V2670F;ENSP00000343124:V2769F	ENSP00000297405:V2839F	V	-	1	0	CSMD3	113377337	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.062000	0.71155	2.480000	0.83734	0.655000	0.94253	GTT		PASS	0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		59	14	59	14	---	---	---	---
TNFRSF11B	4982	broad.mit.edu	37	8	119938863	119938863	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:119938863G>T	ENST00000297350.4	-	4	1065	c.687C>A	c.(685-687)ggC>ggA	p.G229G		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	229	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.G229G(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTACTTTGGTGCCAGGCAAAT	0.438																																						uc003yon.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(685-687)GGC>GGA		osteoprotegerin precursor							165.0	150.0	155.0					8																	119938863		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938863G>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.687C>A	8.37:g.119938863G>T						TNFRSF11B_uc010mdc.1_RNA	p.G229G	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1010	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		229			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.687C>A	CCDS6326.1																																																																																				PASS	0.438	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			145	42	145	42	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8465650	8465650	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:8465650C>A	ENST00000381196.4	-	29	4073	c.3530G>T	c.(3529-3531)cGc>cTc	p.R1177L	PTPRD_ENST00000360074.4_Missense_Mutation_p.R1164L|PTPRD_ENST00000397617.3_Missense_Mutation_p.R756L|PTPRD_ENST00000397611.3_Missense_Mutation_p.R763L|PTPRD_ENST00000486161.1_Missense_Mutation_p.R766L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R756L|PTPRD_ENST00000537002.1_Missense_Mutation_p.R763L|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1177L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R766L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1177L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1155L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1177					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1177L(2)|p.R648L(1)|p.R766L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATGCTTCTGCGCTTCCTAGA	0.393										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3529-3531)CGC>CTC		protein tyrosine phosphatase, receptor type, D							101.0	97.0	99.0					9																	8465650		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465650C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3530G>T	9.37:g.8465650C>A	ENSP00000370593:p.Arg1177Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R766L|PTPRD_uc003zkq.2_Missense_Mutation_p.R766L|PTPRD_uc003zkr.2_Missense_Mutation_p.R761L|PTPRD_uc003zks.2_Missense_Mutation_p.R756L|PTPRD_uc003zkl.2_Missense_Mutation_p.R1168L|PTPRD_uc003zkm.2_Missense_Mutation_p.R1164L|PTPRD_uc003zkn.2_Missense_Mutation_p.R766L|PTPRD_uc003zko.2_Missense_Mutation_p.R763L	p.R1177L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4241	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1177			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3530G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232853	0.95207	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55588	0.56;0.56;0.6;0.65;0.73;0.86;0.61;0.51;0.56;0.73;0.86	5.5	5.5	0.81552	.	0.091014	0.85682	D	0.000000	T	0.41719	0.1171	L	0.27053	0.805	0.58432	D	0.999999	B;B;B;B;B;B;B;P;B	0.41345	0.08;0.001;0.093;0.253;0.252;0.255;0.03;0.746;0.0	B;B;B;B;B;B;B;B;B	0.36608	0.019;0.003;0.031;0.028;0.229;0.091;0.168;0.187;0.002	T	0.22765	-1.0207	9	.	.	.	.	19.7567	0.96296	0.0:1.0:0.0:0.0	.	756;761;766;766;763;763;1164;1177;1177	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1177;1177;1164;1155;766;756;763;763;648;1177;766;756	ENSP00000370593:R1177L;ENSP00000348812:R1177L;ENSP00000353187:R1164L;ENSP00000351293:R1155L;ENSP00000347373:R766L;ENSP00000380741:R756L;ENSP00000380735:R763L;ENSP00000440515:R763L;ENSP00000438164:R1177L;ENSP00000417093:R766L;ENSP00000380731:R756L	.	R	-	2	0	PTPRD	8455650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.746000	0.94184	0.650000	0.86243	CGC		PASS	0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	62	24	62	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19550241	19550241	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:19550241G>A	ENST00000341998.2	-	7	1434	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	SLC24A2_ENST00000286344.3_Missense_Mutation_p.P441L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	458					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.P458L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AAGGCTGAGAGGCTGGTCCTC	0.458																																						uc003zoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1372-1374)CCT>CTT		solute carrier family 24							116.0	117.0	117.0					9																	19550241		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19550241G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1373C>T	9.37:g.19550241G>A	ENSP00000344801:p.Pro458Leu					SLC24A2_uc003zob.1_Missense_Mutation_p.P441L	p.P458L	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	7	1435	-			458			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1373C>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116536	0.77323	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77358	-1.07;-1.09	5.27	5.27	0.74061	.	0.052011	0.85682	D	0.000000	D	0.87740	0.6253	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.988	D	0.87404	0.2371	9	.	.	.	.	18.0269	0.89272	0.0:0.0:1.0:0.0	.	441;458	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	L	458;441	ENSP00000344801:P458L;ENSP00000286344:P441L	.	P	-	2	0	SLC24A2	19540241	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.832000	0.86757	2.612000	0.88384	0.655000	0.94253	CCT		PASS	0.458	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		78	134	78	134	---	---	---	---
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:21206861A>G	ENST00000357374.2	-	1	281	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488																																						uc003zoq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)GTC>GCC		interferon, alpha 10 precursor							54.0	60.0	58.0					9																	21206861		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206861A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.236T>C	9.37:g.21206861A>G	ENSP00000369566:p.Val79Ala					IFNA14_uc003zoo.1_Intron	p.V79A	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	282	-			79					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.236T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.90	2.968995	0.53614	.	.	ENSG00000186803	ENST00000357374	T	0.04917	3.53	3.75	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.07638	0.0192	L	0.54863	1.705	0.09310	N	1	B	0.16802	0.019	B	0.33454	0.164	T	0.35226	-0.9797	10	0.66056	D	0.02	.	2.8329	0.05505	0.5958:0.0:0.2161:0.1881	.	79	P01566	IFN10_HUMAN	A	79	ENSP00000369566:V79A	ENSP00000369566:V79A	V	-	2	0	IFNA10	21196861	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.641000	0.24720	0.034000	0.15491	0.409000	0.27619	GTC		PASS	0.488	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		3	120	3	120	---	---	---	---
LRRC19	64922	broad.mit.edu	37	9	26997838	26997838	+	Missense_Mutation	SNP	A	A	T	rs369993271		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:26997838A>T	ENST00000380055.5	-	3	593	c.483T>A	c.(481-483)gaT>gaA	p.D161E	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron|LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	161						integral component of membrane (GO:0016021)		p.D161E(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		GTGGTGGTACATCCAAATAGC	0.353																																						uc003zqh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)GAT>GAA		leucine rich repeat containing 19 precursor							132.0	133.0	133.0					9																	26997838		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26997838A>T	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.483T>A	9.37:g.26997838A>T	ENSP00000369395:p.Asp161Glu					IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	p.D161E	NM_022901	NP_075052	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	3	594	-		all_neural(11;1.81e-09)	161			LRR 5.|Extracellular (Potential).		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.483T>A	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	A	7.673	0.687356	0.14973	.	.	ENSG00000184434	ENST00000380055	T	0.52526	0.66	5.62	-1.69	0.08186	.	0.395608	0.25122	N	0.032978	T	0.33498	0.0865	M	0.65975	2.015	0.36073	D	0.842261	B	0.06786	0.001	B	0.06405	0.002	T	0.19353	-1.0308	10	0.12430	T	0.62	-4.3743	3.3053	0.06997	0.4984:0.1135:0.0611:0.327	.	161	Q9H756	LRC19_HUMAN	E	161	ENSP00000369395:D161E	ENSP00000369395:D161E	D	-	3	2	LRRC19	26987838	0.989000	0.36119	0.899000	0.35326	0.146000	0.21551	0.360000	0.20250	-0.444000	0.07170	-1.804000	0.00617	GAT		PASS	0.353	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		47	88	47	88	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34506780	34506780	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:34506780A>C	ENST00000242317.4	+	13	1390	c.1219A>C	c.(1219-1221)Aac>Cac	p.N407H		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	407					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.N407H(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTATGACGGCAACGTGGCCAT	0.582									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)AAC>CAC		dynein, axonemal, intermediate chain 1							85.0	71.0	76.0					9																	34506780		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34506780A>C	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1219A>C	9.37:g.34506780A>C	ENSP00000242317:p.Asn407His						p.N407H	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	13	1412	+	all_epithelial(49;0.244)		407			WD 1.		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1219A>C	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	A	9.321	1.058167	0.19987	.	.	ENSG00000122735	ENST00000242317	T	0.70749	-0.51	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.304229	0.36778	N	0.002403	T	0.70474	0.3228	M	0.72118	2.19	0.80722	D	1	B	0.10296	0.003	B	0.22152	0.038	T	0.70260	-0.4921	10	0.72032	D	0.01	.	12.7486	0.57296	1.0:0.0:0.0:0.0	.	407	Q9UI46	DNAI1_HUMAN	H	407	ENSP00000242317:N407H	ENSP00000242317:N407H	N	+	1	0	DNAI1	34496780	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	3.313000	0.51935	1.937000	0.56155	0.460000	0.39030	AAC		PASS	0.582	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			35	93	35	93	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35313984	35313984	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:35313984G>A	ENST00000378495.3	+	10	1387	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E401K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E389K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	389					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E389K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCTGCAGGAGGTAGGAAA	0.443																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(1165-1167)GAG>AAG		UNC13 (C. elegans)-like							132.0	120.0	124.0					9																	35313984		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35313984G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1165G>A	9.37:g.35313984G>A	ENSP00000367756:p.Glu389Lys					UNC13B_uc010mkl.1_Missense_Mutation_p.E389K|UNC13B_uc003zwr.2_Missense_Mutation_p.E389K	p.E389K	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		10	1457	+	all_epithelial(49;0.212)		389					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1165G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899842	0.91962	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.86164	-1.96;-1.89;-2.08	5.74	5.74	0.90152	.	0.117630	0.56097	D	0.000029	D	0.88789	0.6532	L	0.52905	1.665	0.54753	D	0.999987	D;P;P	0.58620	0.983;0.901;0.58	P;P;B	0.51016	0.656;0.475;0.138	D	0.88789	0.3276	10	0.51188	T	0.08	-11.3514	16.8811	0.86063	0.0:0.1277:0.8723:0.0	.	389;389;389	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	K	401;389;389	ENSP00000380006:E401K;ENSP00000367756:E389K;ENSP00000367757:E389K	ENSP00000367756:E389K	E	+	1	0	UNC13B	35303984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.020000	0.76419	2.720000	0.93068	0.650000	0.86243	GAG		PASS	0.443	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		49	74	49	74	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35385807	35385807	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:35385807G>A	ENST00000378495.3	+	22	2937	c.2715G>A	c.(2713-2715)atG>atA	p.M905I	UNC13B_ENST00000396787.1_Missense_Mutation_p.M917I|UNC13B_ENST00000378496.4_Missense_Mutation_p.M905I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	905					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.M905I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTCAGAATGAAGGTAAGAA	0.483																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(2713-2715)ATG>ATA		UNC13 (C. elegans)-like							70.0	71.0	71.0					9																	35385807		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35385807G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2715G>A	9.37:g.35385807G>A	ENSP00000367756:p.Met905Ile					UNC13B_uc003zwr.2_Missense_Mutation_p.M905I	p.M905I	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	3007	+	all_epithelial(49;0.212)		905					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2715G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236768	0.95240	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84873	-1.79;-1.72;-1.91	5.21	5.21	0.72293	.	0.037971	0.85682	D	0.000000	D	0.85141	0.5629	M	0.77820	2.39	0.80722	D	1	P;P	0.42941	0.794;0.633	B;B	0.35039	0.194;0.184	D	0.88249	0.2915	10	0.87932	D	0	-24.2713	19.1137	0.93330	0.0:0.0:1.0:0.0	.	905;905	F8W8M9;O14795	.;UN13B_HUMAN	I	917;905;905;492	ENSP00000380006:M917I;ENSP00000367756:M905I;ENSP00000367757:M905I	ENSP00000367756:M905I	M	+	3	0	UNC13B	35375807	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.826000	0.86716	2.583000	0.87209	0.655000	0.94253	ATG		PASS	0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		35	79	35	79	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35397239	35397239	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:35397239G>C	ENST00000378495.3	+	28	3583	c.3361G>C	c.(3361-3363)Gag>Cag	p.E1121Q	UNC13B_ENST00000481299.1_Intron|UNC13B_ENST00000396787.1_Missense_Mutation_p.E1133Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1121Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1121	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E1121Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGAGCTTTGAGATCATCCG	0.512																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(3361-3363)GAG>CAG		UNC13 (C. elegans)-like							125.0	109.0	115.0					9																	35397239		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35397239G>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3361G>C	9.37:g.35397239G>C	ENSP00000367756:p.Glu1121Gln					UNC13B_uc003zwr.2_Missense_Mutation_p.E1121Q	p.E1121Q	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		28	3653	+	all_epithelial(49;0.212)		1121			MHD1.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.3361G>C	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264764	0.95399	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.77877	-1.13;-1.13;-1.13	5.81	5.81	0.92471	Munc13 homology 1 (1);	0.044597	0.85682	D	0.000000	D	0.88709	0.6510	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.69479	0.964;0.835	D	0.89174	0.3539	10	0.66056	D	0.02	-25.8858	19.0543	0.93056	0.0:0.0:1.0:0.0	.	1121;1121	F8W8M9;O14795	.;UN13B_HUMAN	Q	1133;1121;1121;708	ENSP00000380006:E1133Q;ENSP00000367756:E1121Q;ENSP00000367757:E1121Q	ENSP00000367756:E1121Q	E	+	1	0	UNC13B	35387239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.739000	0.93911	0.563000	0.77884	GAG		PASS	0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		100	170	100	170	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73442860	73442860	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:73442860G>T	ENST00000377111.2	-	6	1119	c.876C>A	c.(874-876)ttC>ttA	p.F292L	TRPM3_ENST00000358082.3_Missense_Mutation_p.F139L|TRPM3_ENST00000360823.2_Missense_Mutation_p.F139L|TRPM3_ENST00000361823.5_Missense_Mutation_p.F139L|TRPM3_ENST00000396292.4_Missense_Mutation_p.F139L|TRPM3_ENST00000377110.3_Missense_Mutation_p.F292L|TRPM3_ENST00000396285.1_Missense_Mutation_p.F139L|TRPM3_ENST00000396283.1_Missense_Mutation_p.F139L|TRPM3_ENST00000357533.2_Missense_Mutation_p.F294L|TRPM3_ENST00000377106.1_Missense_Mutation_p.F139L|TRPM3_ENST00000377105.1_Missense_Mutation_p.F139L|TRPM3_ENST00000423814.3_Missense_Mutation_p.F294L|TRPM3_ENST00000396280.5_Missense_Mutation_p.F139L|TRPM3_ENST00000408909.2_Missense_Mutation_p.F139L|TRPM3_ENST00000377101.1_Missense_Mutation_p.F139L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	292					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.F294L(1)|p.F292L(1)|p.F139L(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGCCAGAATGAAGTGGGAAT	0.468																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(874-876)TTC>TTA		transient receptor potential cation channel,							213.0	192.0	199.0					9																	73442860		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73442860G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.876C>A	9.37:g.73442860G>T	ENSP00000366315:p.Phe292Leu					TRPM3_uc004ahu.2_Missense_Mutation_p.F122L|TRPM3_uc004ahv.2_Missense_Mutation_p.F122L|TRPM3_uc004ahw.2_Missense_Mutation_p.F139L|TRPM3_uc004ahx.2_Missense_Mutation_p.F139L|TRPM3_uc004ahy.2_Missense_Mutation_p.F139L|TRPM3_uc004ahz.2_Missense_Mutation_p.F139L|TRPM3_uc004aia.2_Missense_Mutation_p.F139L|TRPM3_uc004aib.2_Missense_Mutation_p.F139L|TRPM3_uc004aic.2_Missense_Mutation_p.F292L|TRPM3_uc010mor.2_Missense_Mutation_p.F292L|TRPM3_uc004aie.2_Missense_Mutation_p.F139L|TRPM3_uc004aif.2_Missense_Mutation_p.F139L|TRPM3_uc004aig.2_Missense_Mutation_p.F139L|TRPM3_uc004aii.2_Missense_Mutation_p.F294L	p.F292L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			6	1120	-			292			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.876C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.821513|4.821513	0.90873|0.90873	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.09817|.	2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77184|0.77184	0.4093|0.4093	M|M	0.81497|0.81497	2.545|2.545	0.52501|0.52501	D|D	0.999958|0.999958	D;D;D;D;D;D;D;D;D;D;P|.	0.89917|.	0.978;0.999;1.0;0.974;0.999;0.974;0.994;0.978;0.974;0.998;0.756|.	P;D;D;D;P;D;P;P;D;D;B|.	0.81914|.	0.701;0.995;0.985;0.928;0.902;0.969;0.844;0.762;0.969;0.966;0.391|.	T|T	0.77811|0.77811	-0.2449|-0.2449	10|5	0.52906|.	T|.	0.07|.	-24.2523|-24.2523	15.2232|15.2232	0.73330|0.73330	0.0687:0.0:0.9313:0.0|0.0687:0.0:0.9313:0.0	.|.	292;294;139;292;292;292;294;139;139;292;139|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	L|N	292;292;139;139;139;294;139;139;139;139;294;139;139;139;139|139	ENSP00000366315:F292L;ENSP00000366314:F292L;ENSP00000366310:F139L;ENSP00000354066:F139L;ENSP00000366309:F139L;ENSP00000350140:F294L;ENSP00000386127:F139L;ENSP00000379581:F139L;ENSP00000379587:F139L;ENSP00000350791:F139L;ENSP00000389542:F294L;ENSP00000366305:F139L;ENSP00000379579:F139L;ENSP00000355395:F139L|.	ENSP00000350140:F294L|.	F|H	-|-	3|1	2|0	TRPM3|TRPM3	72632680|72632680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.099000|3.099000	0.50267|0.50267	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	TTC|CAT		PASS	0.468	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		84	180	84	180	---	---	---	---
SLC28A3	64078	broad.mit.edu	37	9	86900906	86900906	+	Silent	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:86900906G>C	ENST00000376238.4	-	13	1450	c.1401C>G	c.(1399-1401)gcC>gcG	p.A467A	SLC28A3_ENST00000537648.1_Silent_p.A398A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	467					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.A467A(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ACCAGGACAGGGCTGAATTCA	0.493																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1399-1401)GCC>GCG		concentrative Na+-nucleoside cotransporter							88.0	81.0	83.0					9																	86900906		2203	4300	6503	SO:0001819	synonymous_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900906G>C	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1401C>G	9.37:g.86900906G>C						SLC28A3_uc011lsy.1_Silent_p.A398A|SLC28A3_uc004anu.1_Silent_p.A467A	p.A467A	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			13	1526	-			467			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.1401C>G	CCDS6670.1																																																																																				PASS	0.493	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		19	31	19	31	---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95078179	95078179	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:95078179A>G	ENST00000535387.1	-	6	727	c.728T>C	c.(727-729)aTa>aCa	p.I243T	NOL8_ENST00000542053.1_Missense_Mutation_p.I175T|NOL8_ENST00000358855.4_Missense_Mutation_p.I175T|NOL8_ENST00000545558.1_Missense_Mutation_p.I243T|NOL8_ENST00000442668.2_Missense_Mutation_p.I243T					nucleolar protein 8									p.I245T(1)|p.I243T(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGTCTCTCTATTACCCTCCT	0.453																																						uc004arv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(727-729)ATA>ACA		nucleolar protein 8							60.0	56.0	58.0					9																	95078179		1872	4116	5988	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078179A>G	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.728T>C	9.37:g.95078179A>G	ENSP00000441300:p.Ile243Thr					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.I175T	p.I243T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	1065	-			243						Missense_Mutation	SNP	ENST00000535387.1	37	c.728T>C	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	1.959	-0.439269	0.04636	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075	T;T;T;T;T;T;T;T	0.48522	2.48;2.48;2.48;2.69;2.48;2.2;0.9;0.81	4.85	-5.85	0.02311	.	2.353200	0.01428	N	0.014628	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11567	-1.0582	10	0.21540	T	0.41	14.7774	6.4484	0.21890	0.2366:0.4046:0.3589:0.0	.	243	Q76FK4	NOL8_HUMAN	T	243;245;175;243;243;175;243;243;243	ENSP00000401177:I243T;ENSP00000351723:I175T;ENSP00000441140:I243T;ENSP00000441300:I243T;ENSP00000440709:I175T;ENSP00000414112:I243T;ENSP00000412471:I243T;ENSP00000390143:I243T	ENSP00000351723:I175T	I	-	2	0	NOL8	94118000	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.494000	0.06451	-0.817000	0.04335	0.528000	0.53228	ATA		PASS	0.453	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		28	55	28	55	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97522859	97522859	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:97522859G>T	ENST00000375315.2	+	1	794	c.794G>T	c.(793-795)gGc>gTc	p.G265V	C9orf3_ENST00000297979.5_Missense_Mutation_p.G265V|C9orf3_ENST00000277198.2_Missense_Mutation_p.G265V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	265					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G265V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GACCAGAGTGGCAGGTAGGTT	0.507																																						uc004ava.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(793-795)GGC>GTC		aminopeptidase O							44.0	40.0	41.0					9																	97522859		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522859G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.794G>T	9.37:g.97522859G>T	ENSP00000364464:p.Gly265Val					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.G265V|C9orf3_uc004auy.2_Missense_Mutation_p.G265V|C9orf3_uc004auz.1_Missense_Mutation_p.G265V	p.G265V	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	929	+			265					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.794G>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228125	0.39399	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.25749	4.3;4.3;4.3;1.78;4.3;4.3	4.79	3.9	0.45041	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.186333	0.47455	D	0.000232	T	0.45677	0.1354	M	0.72894	2.215	0.80722	D	1	P;D;P;P	0.71674	0.734;0.998;0.585;0.553	P;D;P;P	0.67231	0.835;0.95;0.577;0.662	T	0.42649	-0.9439	10	0.52906	T	0.07	-13.9758	10.8736	0.46899	0.1532:0.0:0.8468:0.0	.	265;265;265;265	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	V	265;265;265;139;88;47	ENSP00000277198:G265V;ENSP00000297979:G265V;ENSP00000364464:G265V;ENSP00000387736:G139V;ENSP00000402171:G88V;ENSP00000401854:G47V	ENSP00000277198:G265V	G	+	2	0	C9orf3	96562680	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.965000	0.56788	1.382000	0.46385	-0.444000	0.05651	GGC		PASS	0.507	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		18	42	18	42	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98735335	98735335	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:98735335A>T	ENST00000407474.3	+	1	758	c.245A>T	c.(244-246)cAa>cTa	p.Q82L				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1112					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.Q82L(1)									GTTGTTAATCAAGAGCAGTCG	0.274																																						uc010mry.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2440-2442)CAA>CTA		RecName: Full=Putative DNA repair and recombination protein RAD26-like;          EC=3.6.1.-;							47.0	49.0	49.0					9																	98735335		2201	4298	6499	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98735335A>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.245A>T	9.37:g.98735335A>T	ENSP00000384365:p.Gln82Leu					C9orf102_uc004avu.2_Missense_Mutation_p.Q392L|uc010msa.1_Missense_Mutation_p.Q82L|uc011lun.1_Missense_Mutation_p.Q82L	p.Q814L			Q5T890	RAD26_HUMAN			15	3529	+		Acute lymphoblastic leukemia(62;0.0559)	Error:Variant_position_missing_in_Q5T890_after_alignment					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.2441A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.85|10.85	1.465849|1.465849	0.26335|0.26335	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000320486|ENST00000407474	.|.	.|.	.|.	5.39|5.39	4.23|4.23	0.50019|0.50019	.|.	.|0.000000	.|0.49916	.|D	.|0.000139	.|T	.|0.44953	.|0.1318	.|.	.|.	.|.	0.24335|0.24335	N|N	0.994984|0.994984	.|P	.|0.50369	.|0.934	.|P	.|0.47864	.|0.559	.|T	.|0.40251	.|-0.9573	.|8	.|0.72032	.|D	.|0.01	.|.	11.2209|11.2209	0.48855|0.48855	0.8466:0.1534:0.0:0.0|0.8466:0.1534:0.0:0.0	.|.	.|82	.|A4D997	.|CI102_HUMAN	X|L	73|82	.|.	.|ENSP00000384365:Q82L	K|Q	+|+	1|2	0|0	C9orf102|C9orf102	97775156|97775156	0.999000|0.999000	0.42202|0.42202	0.981000|0.981000	0.43875|0.43875	0.109000|0.109000	0.19521|0.19521	2.335000|2.335000	0.43929|0.43929	1.033000|1.033000	0.39918|0.39918	0.528000|0.528000	0.53228|0.53228	AAG|CAA		PASS	0.274	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		4	6	4	6	---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101552494	101552494	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:101552494C>T	ENST00000353234.4	-	2	801	c.754G>A	c.(754-756)Gac>Aac	p.D252N	ANKS6_ENST00000540940.1_Missense_Mutation_p.D57N|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Missense_Mutation_p.D252N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	252						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D252N(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTGAGGTGGTCAGGGTTGGCG	0.672																																						uc004ayu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)GAC>AAC		ankyrin repeat and sterile alpha motif domain							66.0	71.0	69.0					9																	101552494		2131	4237	6368	SO:0001583	missense	203286							g.chr9:101552494C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.754G>A	9.37:g.101552494C>T	ENSP00000297837:p.Asp252Asn					ANKS6_uc004ayy.1_RNA	p.D252N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			2	775	-		Acute lymphoblastic leukemia(62;0.0527)	252			ANK 6.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.754G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259653	0.59321	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.46063	0.88;0.88;0.95	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	N	0.02103	-0.685	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	T	0.29731	-1.0002	10	0.02654	T	1	-33.217	16.8355	0.85956	0.0:1.0:0.0:0.0	.	252	Q68DC2	ANKS6_HUMAN	N	252;252;57	ENSP00000364158:D252N;ENSP00000297837:D252N;ENSP00000442189:D57N	ENSP00000297837:D252N	D	-	1	0	ANKS6	100592315	1.000000	0.71417	0.960000	0.40013	0.450000	0.32258	4.749000	0.62155	2.571000	0.86741	0.561000	0.74099	GAC		PASS	0.672	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		79	172	79	172	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117186785	117186785	+	Silent	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:117186785C>G	ENST00000362057.3	-	6	1413	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	DFNB31_ENST00000374059.3_Silent_p.L64L|DFNB31_ENST00000265134.6_Silent_p.L32L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	415					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.L415L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGGCTGCTCAGGGTCACCT	0.587																																						uc004biz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1243-1245)CTG>CTC		CASK-interacting protein CIP98 isoform 1							35.0	30.0	31.0					9																	117186785		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117186785C>G	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1245G>C	9.37:g.117186785C>G						DFNB31_uc004bix.2_Silent_p.L64L|DFNB31_uc004biy.3_Silent_p.L32L|DFNB31_uc004bja.3_Silent_p.L415L	p.L415L	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			6	1894	-			415					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.1245G>C	CCDS6806.1																																																																																				PASS	0.587	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		41	58	41	58	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135772642	135772642	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:135772642C>A	ENST00000298552.3	-	22	3125	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	TSC1_ENST00000545250.1_Missense_Mutation_p.R917S|TSC1_ENST00000440111.2_Missense_Mutation_p.R968S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	968					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R968S(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTTCTCCAACCTGCCATATA	0.438			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(2902-2904)AGG>AGT		tuberous sclerosis 1 protein isoform 1							142.0	146.0	145.0					9																	135772642		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135772642C>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2904G>T	9.37:g.135772642C>A	ENSP00000298552:p.Arg968Ser					TSC1_uc004ccb.3_Missense_Mutation_p.R967S|TSC1_uc011mcq.1_Missense_Mutation_p.R917S|TSC1_uc011mcr.1_Intron	p.R968S	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	22	3138	-			968			Potential.		B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2904G>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168640	0.38315	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.83837	-1.77;-1.77;-1.59	5.34	0.576	0.17380	.	0.101103	0.64402	D	0.000003	T	0.77294	0.4109	L	0.59436	1.845	0.44762	D	0.997763	B;B	0.24258	0.1;0.1	B;B	0.24541	0.054;0.054	T	0.70930	-0.4738	10	0.54805	T	0.06	-12.7875	9.8474	0.41034	0.0:0.5344:0.0:0.4656	.	917;968	B7Z897;Q92574	.;TSC1_HUMAN	S	968;968;917	ENSP00000298552:R968S;ENSP00000394524:R968S;ENSP00000444017:R917S	ENSP00000298552:R968S	R	-	3	2	TSC1	134762463	0.004000	0.15560	0.755000	0.31263	0.899000	0.52679	-0.333000	0.07894	0.189000	0.20188	-0.142000	0.14014	AGG		PASS	0.438	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			193	276	193	276	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139137450	139137450	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr9:139137450T>G	ENST00000358701.5	-	1	237	c.200A>C	c.(199-201)gAc>gCc	p.D67A		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	67	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.D67A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GCTGCCGCTGTCCAGCACCCA	0.761																																						uc010nbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)GAC>GCC		quiescin Q6 sulfhydryl oxidase 2 precursor							9.0	10.0	10.0					9																	139137450		1887	3775	5662	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139137450T>G	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.200A>C	9.37:g.139137450T>G	ENSP00000351536:p.Asp67Ala						p.D67A	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	1	238	-		Myeloproliferative disorder(178;0.0511)	67			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.200A>C	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	t	11.73	1.726637	0.30593	.	.	ENSG00000165661	ENST00000358701	T	0.19938	2.11	2.83	2.83	0.33086	Thioredoxin-like fold (3);	0.406608	0.21968	U	0.066485	T	0.16811	0.0404	L	0.47716	1.5	0.33700	D	0.614393	B	0.14805	0.011	B	0.15870	0.014	T	0.10497	-1.0627	10	0.36615	T	0.2	.	7.2349	0.26064	0.0:0.0:0.2253:0.7747	.	67	Q6ZRP7	QSOX2_HUMAN	A	67	ENSP00000351536:D67A	ENSP00000351536:D67A	D	-	2	0	QSOX2	138277271	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.279000	0.33191	1.173000	0.42796	0.332000	0.21555	GAC		PASS	0.761	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		4	20	4	20	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7659226	7659226	+	Silent	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:7659226T>A	ENST00000256861.6	-	6	750	c.672A>T	c.(670-672)ccA>ccT	p.P224P	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P224P|ITIH5_ENST00000446830.2_Silent_p.P6P|ITIH5_ENST00000298441.6_Silent_p.P10P|ITIH5_ENST00000397145.2_Silent_p.P224P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	224					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P224P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGACAGTAGATGGGGGAGGCC	0.338																																						uc001ijq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(670-672)CCA>CCT		inter-alpha trypsin inhibitor heavy chain							75.0	74.0	74.0					10																	7659226		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7659226T>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.672A>T	10.37:g.7659226T>A						ITIH5_uc001ijp.2_Silent_p.P10P|ITIH5_uc001ijr.1_Silent_p.P224P	p.P224P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			6	751	-			224					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.672A>T																																																																																					PASS	0.338	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		58	12	58	12	---	---	---	---
C1QL3	389941	broad.mit.edu	37	10	16563058	16563058	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:16563058G>T	ENST00000298943.3	-	1	946	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	3					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.L3M(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACCAGCAGCAGCACCATCACC	0.692																																						uc001ioj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)CTG>ATG		complement component 1, q subcomponent-like 3							8.0	12.0	11.0					10																	16563058		2148	4226	6374	SO:0001583	missense	389941					collagen		g.chr10:16563058G>T		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.7C>A	10.37:g.16563058G>T	ENSP00000298943:p.Leu3Met						p.L3M	NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN			1	947	-			3					A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	37	c.7C>A	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814356	0.50527	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	D	0.88509	-2.39	3.44	3.44	0.39384	.	0.000000	0.56097	D	0.000024	D	0.92612	0.7653	M	0.64997	1.995	0.52099	D	0.999944	D	0.64830	0.994	D	0.67725	0.953	D	0.93572	0.6905	10	0.72032	D	0.01	.	15.0507	0.71867	0.0:0.0:1.0:0.0	.	3	Q5VWW1	C1QL3_HUMAN	M	3	ENSP00000298943:L3M	ENSP00000298943:L3M	L	-	1	2	C1QL3	16603064	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.910000	0.69931	1.739000	0.51704	0.455000	0.32223	CTG		PASS	0.692	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		18	2	18	2	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17369080	17369080	+	Missense_Mutation	SNP	C	C	T	rs373503230		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:17369080C>T	ENST00000377602.4	-	6	642	c.568G>A	c.(568-570)Gga>Aga	p.G190R		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	190					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.G190R(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CCCCCATTTCCGACCACTGCA	0.393																																						uc001ipd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)GGA>AGA		ST8 alpha-N-acetyl-neuraminide		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	101.0	98.0	99.0		568	4.8	1.0	10		99	0,8600		0,0,4300	no	missense	ST8SIA6	NM_001004470.1	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	190/399	17369080	1,13005	2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17369080C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.568G>A	10.37:g.17369080C>T	ENSP00000366827:p.Gly190Arg					ST8SIA6_uc010qce.1_Intron	p.G190R	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			6	568	-			190			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.568G>A	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.907813|4.907813	0.92107|0.92107	2.27E-4|2.27E-4	0.0|0.0	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.59638|.	0.25|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87896|0.87896	0.6293|0.6293	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91703|0.91703	0.5375|0.5375	10|5	0.87932|.	D|.	0|.	-15.4373|-15.4373	18.3783|18.3783	0.90442|0.90442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	190|.	P61647|.	SIA8F_HUMAN|.	R|Q	20;190|10	ENSP00000366827:G190R|.	ENSP00000366827:G190R|.	G|R	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17409086|17409086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.878000|6.878000	0.75567|0.75567	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGA|CGG		PASS	0.393	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		51	22	51	22	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30317316	30317316	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:30317316C>T	ENST00000375377.1	-	3	1862	c.1761G>A	c.(1759-1761)gtG>gtA	p.V587V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	587					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.V587V(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATTCTGATTTCACTGGGATAG	0.413																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1759-1761)GTG>GTA		hypothetical protein LOC57608							102.0	100.0	101.0					10																	30317316		1847	4095	5942	SO:0001819	synonymous_variant	57608							g.chr10:30317316C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1761G>A	10.37:g.30317316C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V449V|KIAA1462_uc009xle.1_Silent_p.V587V	p.V587V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1820	-			587					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.1761G>A	CCDS41500.1																																																																																				PASS	0.413	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		199	213	199	213	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50818900	50818900	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:50818900C>G	ENST00000374115.3	+	1	554	c.114C>G	c.(112-114)atC>atG	p.I38M	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	38					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.I38M(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCTTGTTATCGTGTGCGTGG	0.697																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(112-114)ATC>ATG		vesicular acetylcholine transporter							46.0	36.0	39.0					10																	50818900		2202	4300	6502	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50818900C>G	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.114C>G	10.37:g.50818900C>G	ENSP00000363229:p.Ile38Met					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank	p.I38M	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	554	+			38			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.114C>G	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148460	0.37923	.	.	ENSG00000187714	ENST00000374115	T	0.55052	0.54	5.05	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.083668	0.49305	U	0.000153	T	0.72391	0.3454	M	0.90369	3.11	0.39881	D	0.973636	D	0.89917	1.0	D	0.81914	0.995	T	0.76804	-0.2824	10	0.87932	D	0	-0.8327	6.1143	0.20117	0.0:0.673:0.1626:0.1644	.	38	Q16572	VACHT_HUMAN	M	38	ENSP00000363229:I38M	ENSP00000363229:I38M	I	+	3	3	SLC18A3	50488906	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	0.863000	0.27913	2.339000	0.79563	0.462000	0.41574	ATC		PASS	0.697	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		26	50	26	50	---	---	---	---
UBE2D1	7321	broad.mit.edu	37	10	60124635	60124635	+	Splice_Site	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:60124635A>T	ENST00000373910.4	+	5	530	c.303A>T	c.(301-303)aaA>aaT	p.K101N		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.K101N(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CTGTATCAAAAGGTAATTTCA	0.338																																						uc001jke.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(301-303)AAA>AAT		ubiquitin-conjugating enzyme E2D 1							130.0	123.0	125.0					10																	60124635		2203	4300	6503	SO:0001630	splice_region_variant	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60124635A>T	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.304+1A>T	10.37:g.60124635A>T							p.K101N	NM_003338	NP_003329	P51668	UB2D1_HUMAN			5	526	+			101					A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	c.303A>T	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867315	0.72065	.	.	ENSG00000072401	ENST00000373910	T	0.38240	1.15	5.96	4.81	0.61882	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.101272	0.64402	D	0.000001	T	0.41305	0.1153	M	0.70595	2.14	0.80722	D	1	D	0.57257	0.979	P	0.44422	0.449	T	0.44034	-0.9354	10	0.87932	D	0	.	11.4874	0.50361	0.8492:0.1508:0.0:0.0	.	101	P51668	UB2D1_HUMAN	N	101	ENSP00000363019:K101N	ENSP00000363019:K101N	K	+	3	2	UBE2D1	59794641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.421000	0.80204	1.047000	0.40274	0.533000	0.62120	AAA		PASS	0.338	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338	Missense_Mutation	40	113	40	113	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70960234	70960234	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:70960234G>A	ENST00000359655.4	+	11	1557	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	499	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.K499K(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTTTGAAGAGGCCTGTGG	0.438																																						uc001jpe.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1495-1497)AAG>AAA		suppressor of var1, 3-like 1 precursor							71.0	74.0	73.0					10																	70960234		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70960234G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1497G>A	10.37:g.70960234G>A						SUPV3L1_uc010qjd.1_Silent_p.K368K	p.K499K	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			11	1552	+			499			Helicase C-terminal.		A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.1497G>A	CCDS7287.1																																																																																				PASS	0.438	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		14	158	14	158	---	---	---	---
CHST3	9469	broad.mit.edu	37	10	73767080	73767080	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:73767080C>A	ENST00000373115.4	+	3	728	c.291C>A	c.(289-291)ctC>ctA	p.L97L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	97					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)	p.L97L(1)		endometrium(1)|lung(5)	6						TCCGCAACCTCAGCTTGCAGC	0.647																																						uc001jsn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)CTC>CTA		chondroitin 6-sulfotransferase 3							33.0	30.0	31.0					10																	73767080		2203	4300	6503	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767080C>A	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.291C>A	10.37:g.73767080C>A							p.L97L	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN			3	731	+			97			Lumenal (Potential).		O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.291C>A	CCDS7312.1																																																																																				PASS	0.647	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		12	69	12	69	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87966225	87966225	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:87966225T>C	ENST00000327946.7	-	3	501	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	139					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.Y139C(1)		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						AGCCAGTGTGTAGGCCTCACC	0.622										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(415-417)TAC>TGC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						187.0	123.0	144.0					10																	87966225		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966225T>C	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.416A>G	10.37:g.87966225T>C	ENSP00000330148:p.Tyr139Cys	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.Y139C	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			3	517	-			139			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.416A>G	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112571	0.77210	.	.	ENSG00000182771	ENST00000327946	D	0.86164	-2.08	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.440263	0.24664	N	0.036607	D	0.92718	0.7685	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93222	0.6609	10	0.87932	D	0	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	139	Q9ULK0	GRID1_HUMAN	C	139	ENSP00000330148:Y139C	ENSP00000330148:Y139C	Y	-	2	0	GRID1	87956205	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.035000	0.88872	2.324000	0.78689	0.533000	0.62120	TAC		PASS	0.622	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		111	41	111	41	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98412549	98412549	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:98412549C>T	ENST00000339364.5	-	4	737	c.618G>A	c.(616-618)gtG>gtA	p.V206V	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.V28V	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	206	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.V206V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTTCTGTCGCCACCCTGTCAT	0.507																																						uc001kmq.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(616-618)GTG>GTA		phosphoinositide-3-kinase adaptor protein 1							167.0	158.0	161.0					10																	98412549		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98412549C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.618G>A	10.37:g.98412549C>T						PIK3AP1_uc001kmp.2_Silent_p.V28V	p.V206V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	4	746	-		Colorectal(252;0.0442)	206			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.618G>A	CCDS31259.1																																																																																				PASS	0.507	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		183	96	183	96	---	---	---	---
HOGA1	112817	broad.mit.edu	37	10	99359443	99359443	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:99359443G>C	ENST00000370646.4	+	4	836	c.475G>C	c.(475-477)Gat>Cat	p.D159H	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	159					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.D159H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CCAGGTTGCTGATCTCTCTCC	0.622																																						uc001kny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GAT>CAT		DHDPS-like protein isoform 1							97.0	104.0	101.0					10																	99359443		2203	4300	6503	SO:0001583	missense	112817				glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity	g.chr10:99359443G>C	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.475G>C	10.37:g.99359443G>C	ENSP00000359680:p.Asp159His					DHDPSL_uc001knx.2_3'UTR|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	p.D159H	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN			4	834	+			159					A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.475G>C	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997292	0.74818	.	.	ENSG00000241935	ENST00000370646	D	0.95001	-3.58	4.55	4.55	0.56014	Aldolase-type TIM barrel (1);	0.047328	0.85682	D	0.000000	D	0.98024	0.9349	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.99701	1.1004	10	0.87932	D	0	-26.5366	17.3211	0.87236	0.0:0.0:1.0:0.0	.	159	Q86XE5	HOGA1_HUMAN	H	159	ENSP00000359680:D159H	ENSP00000359680:D159H	D	+	1	0	HOGA1	99349433	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	8.889000	0.92470	2.065000	0.61736	0.650000	0.86243	GAT		PASS	0.622	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		103	333	103	333	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826716	103826716	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:103826716G>T	ENST00000299238.5	+	1	1570	c.1485G>T	c.(1483-1485)agG>agT	p.R495S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	495					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.R495S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTGCTGAGGACTGAGTTGA	0.622									Hermansky-Pudlak syndrome																													uc001kuj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1483-1485)AGG>AGT		Hermansky-Pudlak syndrome-6							59.0	61.0	60.0					10																	103826716		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826716G>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1485G>T	10.37:g.103826716G>T	ENSP00000299238:p.Arg495Ser						p.R495S	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1570	+		Colorectal(252;0.122)	495					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1485G>T	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	5.363	0.252261	0.10185	.	.	ENSG00000166189	ENST00000299238	T	0.76186	-1.0	4.79	2.47	0.30058	.	0.558495	0.19475	N	0.113358	T	0.61035	0.2315	L	0.41236	1.265	0.24058	N	0.996024	B	0.25169	0.119	B	0.26202	0.067	T	0.47446	-0.9117	10	0.27785	T	0.31	-6.7706	6.7274	0.23365	0.2188:0.2556:0.5256:0.0	.	495	Q86YV9	HPS6_HUMAN	S	495	ENSP00000299238:R495S	ENSP00000299238:R495S	R	+	3	2	HPS6	103816706	0.770000	0.28543	1.000000	0.80357	0.961000	0.63080	0.527000	0.22987	0.946000	0.37632	0.561000	0.74099	AGG		PASS	0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		109	42	109	42	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105932195	105932195	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:105932195A>T	ENST00000278064.2	-	20	2677	c.2352T>A	c.(2350-2352)caT>caA	p.H784Q	WDR96_ENST00000428666.1_Missense_Mutation_p.H854Q|WDR96_ENST00000357060.3_Missense_Mutation_p.H853Q														p.H853Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACTTTCATCATGAAGCCTTT	0.323																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2557-2559)CAT>CAA		hypothetical protein LOC80217							115.0	108.0	110.0					10																	105932195		2202	4299	6501	SO:0001583	missense	80217							g.chr10:105932195A>T																												ENST00000278064.2:c.2352T>A	10.37:g.105932195A>T	ENSP00000278064:p.His784Gln					C10orf79_uc009xxq.2_Missense_Mutation_p.H161Q|C10orf79_uc001kxx.3_Missense_Mutation_p.H854Q	p.H853Q	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	20	2675	-		Colorectal(252;0.178)	853			Potential.			Missense_Mutation	SNP	ENST00000278064.2	37	c.2559T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.520|2.520	-0.311054|-0.311054	0.05458|0.05458	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.12039|.	2.72;2.73;2.76|.	5.59|5.59	-11.2|-11.2	0.00127|0.00127	.|.	0.862822|.	0.10373|.	N|.	0.682571|.	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.0;0.003;0.001|.	B;B;B|.	0.06405|.	0.0;0.002;0.001|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|5	0.10902|.	T|.	0.67|.	.|.	7.7995|7.7995	0.29166|0.29166	0.1676:0.0837:0.5477:0.201|0.1676:0.0837:0.5477:0.201	.|.	854;854;853|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	Q|K	853;854;784|214	ENSP00000349568:H853Q;ENSP00000400289:H854Q;ENSP00000278064:H784Q|.	ENSP00000278064:H784Q|.	H|M	-|-	3|2	2|0	WDR96|WDR96	105922185|105922185	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.818000|0.818000	0.46254|0.46254	-4.864000|-4.864000	0.00176|0.00176	-3.041000|-3.041000	0.00263|0.00263	0.528000|0.528000	0.53228|0.53228	CAT|ATG		PASS	0.323	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			66	24	66	24	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	128019004	128019004	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:128019004G>T	ENST00000368679.4	-	2	472	c.163C>A	c.(163-165)Cca>Aca	p.P55T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P55T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	55					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.P55T(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCTTCACTGGGATCCAGAGG	0.473																																						uc001ljk.2																			3	Substitution - Missense(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(163-165)CCA>ACA		ADAM metallopeptidase domain 12 isoform 1							124.0	129.0	127.0					10																	128019004		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:128019004G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.163C>A	10.37:g.128019004G>T	ENSP00000357668:p.Pro55Thr					ADAM12_uc010qul.1_Missense_Mutation_p.P55T|ADAM12_uc001ljm.2_Missense_Mutation_p.P55T|ADAM12_uc001ljn.2_Missense_Mutation_p.P55T|ADAM12_uc001ljl.3_Missense_Mutation_p.P55T	p.P55T	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	2	576	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	55					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.163C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	9.327	1.059571	0.19987	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21031	4.78;2.03;3.73	4.93	4.01	0.46588	.	0.708561	0.11104	U	0.599339	T	0.21550	0.0519	N	0.20881	0.62	0.09310	N	1	P;P;P;P;P	0.52577	0.954;0.728;0.728;0.728;0.954	P;B;B;B;P	0.54706	0.759;0.294;0.294;0.294;0.759	T	0.01824	-1.1266	10	0.06625	T	0.88	.	11.3217	0.49426	0.0:0.1833:0.8167:0.0	.	55;55;55;55;55	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	55	ENSP00000357668:P55T;ENSP00000357665:P55T;ENSP00000391268:P55T	ENSP00000357665:P55T	P	-	1	0	ADAM12	128008994	0.223000	0.23663	0.011000	0.14972	0.350000	0.29205	2.003000	0.40844	1.391000	0.46566	0.655000	0.94253	CCA		PASS	0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			185	51	185	51	---	---	---	---
GLRX3	10539	broad.mit.edu	37	10	131958274	131958274	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:131958274G>T	ENST00000368644.1	+	3	239	c.217G>T	c.(217-219)Gtt>Ttt	p.V73F	GLRX3_ENST00000331244.5_Missense_Mutation_p.V73F	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	73	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.V73F(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGCTGAAGGTGTTCCTGAAGT	0.323																																						uc001lkm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(217-219)GTT>TTT		glutaredoxin 3							133.0	150.0	144.0					10																	131958274		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131958274G>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.217G>T	10.37:g.131958274G>T	ENSP00000357633:p.Val73Phe					GLRX3_uc001lkn.1_Missense_Mutation_p.V73F|GLRX3_uc001lko.2_RNA	p.V73F	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	3	239	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	73			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.217G>T	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107191	0.56291	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.13901	2.55;2.55	5.74	5.74	0.90152	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.53780	1.695	0.80722	D	1	B	0.25743	0.133	B	0.43508	0.422	T	0.04811	-1.0925	10	0.24483	T	0.36	-12.6975	18.9208	0.92525	0.0:0.0:1.0:0.0	.	73	O76003	GLRX3_HUMAN	F	73	ENSP00000330836:V73F;ENSP00000357633:V73F	ENSP00000330836:V73F	V	+	1	0	GLRX3	131848264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.767000	0.91732	2.720000	0.93068	0.650000	0.86243	GTT		PASS	0.323	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		64	23	64	23	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134648195	134648195	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:134648195G>T	ENST00000368586.5	-	48	6929	c.6829C>A	c.(6829-6831)Cag>Aag	p.Q2277K	TTC40_ENST00000263170.5_Missense_Mutation_p.Q438K	NM_001200049.2	NP_001186978.2												p.Q438K(1)|p.Q2277K(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AATAGCGGCTGCAGAAGCTCC	0.622																																						uc010qux.1																			2	Substitution - Missense(2)		lung(2)								c.(6007-6009)CAG>AAG		Homo sapiens cDNA, FLJ17989.							32.0	35.0	34.0					10																	134648195		2203	4300	6503	SO:0001583	missense	0							g.chr10:134648195G>T																												ENST00000368586.5:c.6829C>A	10.37:g.134648195G>T	ENSP00000357575:p.Gln2277Lys						p.Q2003K	NM_017609	NP_060079					40	6007	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.6007C>A	CCDS58101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.573|0.573	-0.840156|-0.840156	0.02692|0.02692	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000448925|ENST00000368586;ENST00000263170	.|T;T	.|0.09911	.|3.12;2.93	3.58|3.58	-7.16|-7.16	0.01516|0.01516	.|.	.|2.075980	.|0.02518	.|N	.|0.092294	.|T	.|0.06645	.|0.0170	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	.|T	.|0.30679	.|-0.9970	.|10	.|0.15066	.|T	.|0.55	.|.	7.5202|7.5202	0.27624|0.27624	0.0:0.1826:0.5026:0.3147|0.0:0.1826:0.5026:0.3147	.|.	.|438	.|Q8IYW2	.|CJ092_HUMAN	X|K	45|2277;438	.|ENSP00000357575:Q2277K;ENSP00000263170:Q438K	.|ENSP00000263170:Q438K	C|Q	-|-	3|1	2|0	C10orf93|C10orf93	134498185|134498185	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	-0.505000|-0.505000	0.06367|0.06367	-1.643000|-1.643000	0.01519|0.01519	-1.572000|-1.572000	0.00871|0.00871	TGC|CAG		PASS	0.622	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			32	21	32	21	---	---	---	---
OR51G2	81282	broad.mit.edu	37	11	4936530	4936530	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:4936530A>G	ENST00000322013.3	-	1	392	c.364T>C	c.(364-366)Tct>Cct	p.S122P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S122P(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGCCATAGACAGTAGCACA	0.502																																						uc001lzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(364-366)TCT>CCT		olfactory receptor, family 51, subfamily G,							86.0	82.0	84.0					11																	4936530		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936530A>G	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.364T>C	11.37:g.4936530A>G	ENSP00000322593:p.Ser122Pro						p.S122P	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	364	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	122			Helical; Name=3; (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.364T>C	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952383	0.53293	.	.	ENSG00000176893	ENST00000322013	T	0.11385	2.78	5.58	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000146	T	0.16981	0.0408	L	0.41124	1.26	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07888	-1.0749	10	0.87932	D	0	.	1.7867	0.03043	0.4554:0.2247:0.0759:0.244	.	122	Q8NGK0	O51G2_HUMAN	P	122	ENSP00000322593:S122P	ENSP00000322593:S122P	S	-	1	0	OR51G2	4893106	0.000000	0.05858	0.729000	0.30791	0.916000	0.54674	-0.144000	0.10280	0.537000	0.28751	0.533000	0.62120	TCT		PASS	0.502	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		39	16	39	16	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048462	6048462	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:6048462C>T	ENST00000316650.5	-	1	509	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R158Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCGCATTCCGCACCACAAT	0.493																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(472-474)CGG>CAG		olfactory receptor, family 56, subfamily A,							148.0	128.0	135.0					11																	6048462		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048462C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.473G>A	11.37:g.6048462C>T	ENSP00000321246:p.Arg158Gln						p.R158Q	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	473	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	158			Helical; Name=4; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.473G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.551128	0.13374	.	.	ENSG00000180934	ENST00000316650	T	0.37411	1.2	4.27	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.194687	0.24222	N	0.040431	T	0.51058	0.1652	M	0.93016	3.37	0.09310	N	1	B	0.30021	0.265	B	0.38106	0.265	T	0.53858	-0.8379	10	0.87932	D	0	.	10.5302	0.44973	0.0:0.6801:0.0:0.3199	.	158	Q8NGH5	O56A1_HUMAN	Q	158	ENSP00000321246:R158Q	ENSP00000321246:R158Q	R	-	2	0	OR56A1	6005038	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-0.040000	0.13580	-0.797000	0.03246	CGG		PASS	0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		91	41	91	41	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861369	55861369	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:55861369A>T	ENST00000302124.2	+	1	617	c.586A>T	c.(586-588)Atg>Ttg	p.M196L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M196L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CGGCACAGAAATGGTGAGCTT	0.428																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(586-588)ATG>TTG		olfactory receptor, family 8, subfamily I,							162.0	141.0	148.0					11																	55861369		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861369A>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.586A>T	11.37:g.55861369A>T	ENSP00000303864:p.Met196Leu						p.M196L	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	586	+	Esophageal squamous(21;0.00693)		196			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.586A>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.677569	0.00751	.	.	ENSG00000172154	ENST00000302124	T	0.00024	8.97	4.33	-3.34	0.04943	GPCR, rhodopsin-like superfamily (1);	0.568524	0.14833	N	0.295754	T	0.00039	0.0001	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36359	-0.9751	10	0.02654	T	1	-0.3506	2.6198	0.04913	0.2685:0.3987:0.0774:0.2553	.	196	Q8N0Y5	OR8I2_HUMAN	L	196	ENSP00000303864:M196L	ENSP00000303864:M196L	M	+	1	0	OR8I2	55617945	0.000000	0.05858	0.024000	0.17045	0.523000	0.34469	-1.248000	0.02890	-0.899000	0.03901	0.362000	0.22060	ATG		PASS	0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		6	185	6	185	---	---	---	---
OR9Q1	219956	broad.mit.edu	37	11	57947664	57947664	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:57947664T>C	ENST00000335397.3	+	3	1064	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F250L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTGTCACTCTTCTTTGGTAC	0.517																																						uc001nmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)TTC>CTC		olfactory receptor, family 9, subfamily Q,							222.0	168.0	187.0					11																	57947664		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947664T>C	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.748T>C	11.37:g.57947664T>C	ENSP00000334934:p.Phe250Leu						p.F250L	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	1064	+		Breast(21;0.222)	250			Helical; Name=6; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.748T>C	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292144	0.59976	.	.	ENSG00000186509	ENST00000335397	T	0.00285	8.3	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000195	T	0.00468	0.0015	M	0.64997	1.995	0.33849	D	0.632392	D	0.89917	1.0	D	0.87578	0.998	T	0.68131	-0.5490	10	0.44086	T	0.13	-32.3492	7.2624	0.26212	0.0:0.1719:0.0:0.8281	.	250	Q8NGQ5	OR9Q1_HUMAN	L	250	ENSP00000334934:F250L	ENSP00000334934:F250L	F	+	1	0	OR9Q1	57704240	0.161000	0.22892	1.000000	0.80357	0.937000	0.57800	2.638000	0.46562	2.052000	0.61016	0.397000	0.26171	TTC		PASS	0.517	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		205	90	205	90	---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60264962	60264962	+	Silent	SNP	G	G	A	rs201559362		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:60264962G>A	ENST00000016913.4	+	2	228	c.171G>A	c.(169-171)ccG>ccA	p.P57P	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Silent_p.P57P	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	57						integral component of membrane (GO:0016021)		p.P57P(2)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TCACATCTCCGGGAATCTTTG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18188	0.0		0.001	False		,,,				2504	0.0					uc001npr.2																			2	Substitution - coding silent(2)		lung(1)|prostate(1)		0						c.(169-171)CCG>CCA		membrane-spanning 4-domains, subfamily A, member							73.0	71.0	71.0					11																	60264962		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60264962G>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.171G>A	11.37:g.60264962G>A						MS4A12_uc009ynb.2_Silent_p.P57P	p.P57P	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			2	228	+			57			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.171G>A	CCDS7988.1																																																																																				PASS	0.463	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			4	126	4	126	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66483365	66483365	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:66483365T>C	ENST00000533211.1	-	4	576	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y82C|RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y82C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	82	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.Y82C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GAGGTCGCTGTACAGGTCCCC	0.612																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(244-246)TAC>TGC		spectrin, beta, non-erythrocytic 2							90.0	70.0	77.0					11																	66483365		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66483365T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.245A>G	11.37:g.66483365T>C	ENSP00000432568:p.Tyr82Cys						p.Y82C	NM_006946	NP_008877	O15020	SPTN2_HUMAN			3	317	-			82			CH 1.|Actin-binding.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.245A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699377	0.88830	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262;ENST00000527010	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.04	5.04	0.67666	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84312	0.0511	10	0.87932	D	0	.	13.8985	0.63787	0.0:0.0:0.0:1.0	.	82	O15020	SPTN2_HUMAN	C	82	ENSP00000432568:Y82C;ENSP00000311489:Y82C;ENSP00000433593:Y82C;ENSP00000433631:Y82C	ENSP00000311489:Y82C	Y	-	2	0	SPTBN2	66239941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.794000	0.85869	2.110000	0.64415	0.459000	0.35465	TAC		PASS	0.612	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		99	34	99	34	---	---	---	---
UCP3	7352	broad.mit.edu	37	11	73717342	73717342	+	Missense_Mutation	SNP	C	C	T	rs58614015	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:73717342C>T	ENST00000314032.4	-	3	761	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	UCP3_ENST00000426995.2_Missense_Mutation_p.R70Q|UCP3_ENST00000348534.4_Missense_Mutation_p.R70Q	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	70			R -> W (in severe obesity with type 2 diabetes; dbSNP:rs17848368). {ECO:0000269|Ref.9}.		aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)	p.R70Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ACCCTCAGTCCGCACCATGGT	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		16207	0.002		0.0	False		,,,				2504	0.0					uc001our.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(208-210)CGG>CAG		uncoupling protein 3 isoform UCP3L							28.0	28.0	28.0					11																	73717342		2200	4292	6492	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717342C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.209G>A	11.37:g.73717342C>T	ENSP00000323740:p.Arg70Gln					UCP3_uc001ous.2_Missense_Mutation_p.R70Q	p.R70Q	NM_003356	NP_003347	P55916	UCP3_HUMAN			3	564	-	Breast(11;2.08e-05)		70			Solcar 1.		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.209G>A	CCDS8229.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	20.3	3.966184	0.74131	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.31	4.19	0.49359	Mitochondrial carrier domain (2);	0.103090	0.64402	D	0.000007	T	0.80308	0.4599	M	0.71920	2.185	0.31470	N	0.66847	P	0.35982	0.531	B	0.41691	0.364	D	0.83357	0.0000	10	0.66056	D	0.02	-10.0515	9.3198	0.37957	0.0:0.7765:0.0:0.2235	rs58614015	70	P55916	UCP3_HUMAN	Q	70	ENSP00000323740:R70Q;ENSP00000343615:R70Q;ENSP00000392143:R70Q;ENSP00000445279:R70Q	ENSP00000323740:R70Q	R	-	2	0	UCP3	73394990	0.952000	0.32445	1.000000	0.80357	0.850000	0.48378	0.361000	0.20267	2.498000	0.84270	0.561000	0.74099	CGG		PASS	0.657	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		32	12	32	12	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123886786	123886786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:123886786G>T	ENST00000320891.4	+	1	505	c.505G>T	c.(505-507)Gga>Tga	p.G169*		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G169*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCCTACTGTGGACCCAACCA	0.567																																						uc010sac.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(505-507)GGA>TGA		olfactory receptor, family 10, subfamily G,							154.0	139.0	144.0					11																	123886786		2200	4279	6479	SO:0001587	stop_gained	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886786G>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.505G>T	11.37:g.123886786G>T	ENSP00000325076:p.Gly169*						p.G169*	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	505	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	169			Extracellular (Potential).		Q6IEW0	Nonsense_Mutation	SNP	ENST00000320891.4	37	c.505G>T	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	13.45	2.241867	0.39598	.	.	ENSG00000254737	ENST00000320891	.	.	.	3.33	3.33	0.38152	.	0.000000	0.47455	D	0.000238	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.0538	0.53522	0.0:0.1755:0.8245:0.0	.	.	.	.	X	169	.	ENSP00000325076:G169X	G	+	1	0	OR10G4	123391996	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	2.854000	0.48325	1.878000	0.54408	0.580000	0.79431	GGA		PASS	0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		213	118	213	118	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253171	124253171	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:124253171G>T	ENST00000375013.2	-	1	87	c.69C>A	c.(67-69)ttC>ttA	p.F23L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F23L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGGGTTGCCGGAACTCTGGAT	0.413																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TTC>TTA		olfactory receptor, family 8, subfamily B,							189.0	166.0	173.0					11																	124253171		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253171G>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.69C>A	11.37:g.124253171G>T	ENSP00000364152:p.Phe23Leu					OR8B2_uc001qab.3_RNA	p.F23L	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	69	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	23			Extracellular (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.69C>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	0.085	-1.176944	0.01646	.	.	ENSG00000204293	ENST00000375013	T	0.02631	4.22	4.2	-0.178	0.13303	.	0.123056	0.37219	N	0.002200	T	0.00496	0.0016	N	0.00109	-2.105	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42085	-0.9472	10	0.02654	T	1	.	0.1987	0.00142	0.2624:0.1752:0.2871:0.2753	.	23	Q96RD0	OR8B2_HUMAN	L	23	ENSP00000364152:F23L	ENSP00000364152:F23L	F	-	3	2	OR8B2	123758381	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	-0.547000	0.06055	-0.111000	0.12001	0.400000	0.26472	TTC		PASS	0.413	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		59	242	59	242	---	---	---	---
A2M	2	broad.mit.edu	37	12	9268360	9268360	+	Splice_Site	SNP	G	G	T	rs368215969		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:9268360G>T	ENST00000318602.7	-	1	393	c.86C>A	c.(85-87)cCg>cAg	p.P29Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	29					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.P29Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGGAACTCACGGTTTTCCAGA	0.443																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(85-87)CCG>CAG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						110.0	111.0	111.0					12																	9268360		1904	4119	6023	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9268360G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.86+1C>A	12.37:g.9268360G>T						A2M_uc009zgk.1_5'UTR	p.P29Q	NM_000014	NP_000005	P01023	A2MG_HUMAN			1	199	-			29					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.86C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088827	0.76756	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.07021	3.23;3.23	5.6	5.6	0.85130	TonB box, conserved site (1);	0.086882	0.49305	D	0.000147	T	0.34948	0.0915	M	0.88775	2.98	0.39511	D	0.968363	D	0.89917	1.0	D	0.80764	0.994	T	0.27773	-1.0064	9	.	.	.	.	15.1048	0.72312	0.0:0.0:1.0:0.0	.	29	P01023	A2MG_HUMAN	Q	29;44;29	ENSP00000323929:P29Q;ENSP00000385710:P29Q	.	P	-	2	0	A2M	9159627	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	3.645000	0.54389	2.640000	0.89533	0.655000	0.94253	CCG		PASS	0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Missense_Mutation	68	35	68	35	---	---	---	---
TAS2R31	259290	broad.mit.edu	37	12	11183530	11183530	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:11183530C>A	ENST00000390675.2	-	1	476	c.405G>T	c.(403-405)ggG>ggT	p.G135G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	135					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.G135G(1)		kidney(1)|lung(6)	7						ATAGTAAAGGCCCCAACAGCA	0.348																																						uc001qzo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)GGG>GGT		taste receptor, type 2, member 31							88.0	94.0	92.0					12																	11183530		2020	4235	6255	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183530C>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.405G>T	12.37:g.11183530C>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.G135G	NM_176885	NP_795366	P59538	T2R31_HUMAN			1	477	-			135			Helical; Name=4; (Potential).		P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.405G>T	CCDS53747.1																																																																																				PASS	0.348	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		54	44	54	44	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20876065	20876065	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:20876065T>G	ENST00000266509.2	+	9	1431	c.1063T>G	c.(1063-1065)Tac>Gac	p.Y355D	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.Y237D|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y355D|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y306D|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Y355D	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	355					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y355D(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AAACCCAGTATACTTCCTATA	0.368																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1063-1065)TAC>GAC		solute carrier organic anion transporter family,							173.0	160.0	164.0					12																	20876065		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876065T>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1063T>G	12.37:g.20876065T>G	ENSP00000266509:p.Tyr355Asp					SLCO1C1_uc010sii.1_Missense_Mutation_p.Y355D|SLCO1C1_uc010sij.1_Missense_Mutation_p.Y306D|SLCO1C1_uc009zip.2_Missense_Mutation_p.Y189D|SLCO1C1_uc001rei.2_Missense_Mutation_p.Y355D|SLCO1C1_uc010sik.1_Missense_Mutation_p.Y237D	p.Y355D	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1418	+	Esophageal squamous(101;0.149)		355			Helical; Name=7; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1063T>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203101	0.58234	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.48	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.82186	-0.0582	10	0.87932	D	0	.	14.2163	0.65795	0.0:0.0:0.0:1.0	.	237;306;355;355	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	D	355;306;355;355;237	ENSP00000444149:Y355D;ENSP00000438665:Y306D;ENSP00000266509:Y355D;ENSP00000370964:Y355D;ENSP00000444527:Y237D	ENSP00000266509:Y355D	Y	+	1	0	SLCO1C1	20767332	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	7.480000	0.81109	2.003000	0.58678	0.459000	0.35465	TAC		PASS	0.368	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		72	25	72	25	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30783889	30783889	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:30783889C>T	ENST00000256079.4	-	25	3357	c.3019G>A	c.(3019-3021)Gca>Aca	p.A1007T	IPO8_ENST00000544829.1_Missense_Mutation_p.A802T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.A1007T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTCTTCTTTGCCTCTAGCATT	0.398																																						uc001rjd.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(3019-3021)GCA>ACA		importin 8							80.0	79.0	80.0					12																	30783889		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30783889C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.3019G>A	12.37:g.30783889C>T	ENSP00000256079:p.Ala1007Thr					IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.A802T	p.A1007T	NM_006390	NP_006381	O15397	IPO8_HUMAN			25	3189	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		1007					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.3019G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264465	0.39995	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.45276	1.9;0.9	4.58	2.4	0.29515	.	0.498867	0.18674	N	0.134374	T	0.13114	0.0318	N	0.00926	-1.1	0.25867	N	0.983753	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12293	-1.0553	10	0.44086	T	0.13	-4.4083	3.9583	0.09399	0.0:0.5194:0.0:0.4806	.	802;1007	B7Z7M3;O15397	.;IPO8_HUMAN	T	1007;483;802	ENSP00000256079:A1007T;ENSP00000444520:A802T	ENSP00000256079:A1007T	A	-	1	0	IPO8	30675156	0.937000	0.31787	1.000000	0.80357	0.917000	0.54804	0.369000	0.20416	0.905000	0.36596	0.558000	0.71614	GCA		PASS	0.398	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		40	17	40	17	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40745484	40745484	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:40745484C>A	ENST00000298910.7	+	44	6583	c.6525C>A	c.(6523-6525)gaC>gaA	p.D2175E		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2175					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D2182E(1)|p.D2175E(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCACACCGACAGAGGACAGC	0.388																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6523-6525)GAC>GAA		leucine-rich repeat kinase 2							81.0	86.0	84.0					12																	40745484		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40745484C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6525C>A	12.37:g.40745484C>A	ENSP00000298910:p.Asp2175Glu					LRRK2_uc009zjw.2_Missense_Mutation_p.D1013E|LRRK2_uc001rmi.2_Missense_Mutation_p.D1008E	p.D2175E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			44	6646	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2175					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6525C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	4.524	0.097309	0.08681	.	.	ENSG00000188906	ENST00000298910	T	0.70869	-0.52	6.06	1.54	0.23209	.	0.288695	0.44688	N	0.000436	T	0.35508	0.0934	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10222	-1.0639	10	0.11794	T	0.64	.	1.4358	0.02343	0.4658:0.2318:0.1154:0.187	.	2175;2175	Q17RV3;Q5S007	.;LRRK2_HUMAN	E	2175	ENSP00000298910:D2175E	ENSP00000298910:D2175E	D	+	3	2	LRRK2	39031751	0.543000	0.26434	0.905000	0.35620	0.482000	0.33219	0.505000	0.22642	0.402000	0.25451	0.655000	0.94253	GAC		PASS	0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		61	25	61	25	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41337799	41337799	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:41337799C>T	ENST00000551295.2	+	14	1627	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	CNTN1_ENST00000547849.1_Missense_Mutation_p.P504S|CNTN1_ENST00000348761.2_Missense_Mutation_p.P493S|CNTN1_ENST00000347616.1_Missense_Mutation_p.P504S|CNTN1_ENST00000360099.3_Missense_Mutation_p.P504S|CNTN1_ENST00000547702.1_Missense_Mutation_p.P504S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	504	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P504S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATATATAGATCCTACGCGAAT	0.343																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1510-1512)CCT>TCT		contactin 1 isoform 1 precursor							78.0	70.0	72.0					12																	41337799		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337799C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1510C>T	12.37:g.41337799C>T	ENSP00000447006:p.Pro504Ser					CNTN1_uc009zjy.1_Missense_Mutation_p.P504S|CNTN1_uc001rmn.1_Missense_Mutation_p.P493S|CNTN1_uc001rmo.2_Missense_Mutation_p.P504S	p.P504S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			14	1623	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	504			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1510C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	6.031	0.374057	0.11409	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.72	3.76	0.43208	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.115851	0.64402	D	0.000015	T	0.40619	0.1124	L	0.59436	1.845	0.36072	D	0.842195	B;B;B	0.11235	0.0;0.004;0.002	B;B;B	0.12156	0.003;0.007;0.003	T	0.52328	-0.8590	10	0.54805	T	0.06	.	14.2136	0.65779	0.0:0.7454:0.2546:0.0	.	504;493;504	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	S	504;504;504;504;504;493	ENSP00000448004:P504S;ENSP00000447006:P504S;ENSP00000448653:P504S;ENSP00000325660:P504S;ENSP00000353213:P504S;ENSP00000261160:P493S	ENSP00000325660:P504S	P	+	1	0	CNTN1	39624066	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	3.163000	0.50763	2.625000	0.88918	0.511000	0.50034	CCT		PASS	0.343	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		36	12	36	12	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54905761	54905761	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:54905761C>T	ENST00000293373.6	+	9	892	c.813C>T	c.(811-813)ctC>ctT	p.L271L	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Silent_p.L221L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	271					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.L271L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGGGTGCCTCAACTCCAATA	0.483																																						uc001sgc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(811-813)CTC>CTT		NCK-associated protein 1-like							156.0	140.0	145.0					12																	54905761		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54905761C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.813C>T	12.37:g.54905761C>T						NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L221L	p.L271L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			9	892	+			271					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.813C>T	CCDS31813.1																																																																																				PASS	0.483	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		61	104	61	104	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62785030	62785030	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:62785030G>A	ENST00000280377.5	+	16	2112	c.2054G>A	c.(2053-2055)gGa>gAa	p.G685E	USP15_ENST00000393654.3_Missense_Mutation_p.G660E|USP15_ENST00000353364.3_Missense_Mutation_p.G656E	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	685	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G656E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GATTCAGTTGGAGGAGATAAT	0.393																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2053-2055)GGA>GAA		ubiquitin specific peptidase 15							87.0	85.0	86.0					12																	62785030		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785030G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2054G>A	12.37:g.62785030G>A	ENSP00000280377:p.Gly685Glu					USP15_uc001srb.1_Missense_Mutation_p.G656E	p.G685E	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2063	+			685					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.2054G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684432	0.29872	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.17528	2.27;2.27;2.27	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.061993	0.64402	D	0.000006	T	0.15262	0.0368	L	0.31371	0.925	0.80722	D	1	B;B	0.25850	0.015;0.136	B;B	0.22880	0.027;0.042	T	0.07829	-1.0752	9	.	.	.	-15.8079	19.6016	0.95566	0.0:0.0:1.0:0.0	.	685;656	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	E	656;685;660	ENSP00000258123:G656E;ENSP00000280377:G685E;ENSP00000377264:G660E	.	G	+	2	0	USP15	61071297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.022000	0.93678	2.643000	0.89663	0.563000	0.77884	GGA		PASS	0.393	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		38	44	38	44	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86374004	86374004	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:86374004C>T	ENST00000604798.1	-	8	1704	c.500G>A	c.(499-501)gGa>gAa	p.G167E	MGAT4C_ENST00000393205.2_Missense_Mutation_p.G196E|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G167E|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G167E|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G167E|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G167E			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	167					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.G167E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATTAATCTTCCTGCAATAAT	0.398																																						uc001tai.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(499-501)GGA>GAA		alpha-1,3-mannosyl-glycoprotein							101.0	100.0	100.0					12																	86374004		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374004C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.500G>A	12.37:g.86374004C>T	ENSP00000474896:p.Gly167Glu					MGAT4C_uc001tal.3_Missense_Mutation_p.G167E|MGAT4C_uc001taj.3_Missense_Mutation_p.G167E|MGAT4C_uc001tak.3_Missense_Mutation_p.G167E|MGAT4C_uc010sum.1_Missense_Mutation_p.G191E|MGAT4C_uc001tah.3_Missense_Mutation_p.G167E	p.G167E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	1750	-			167			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.500G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579291	0.46006	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.58	5.58	0.84498	.	0.061527	0.64402	D	0.000004	D	0.89726	0.6798	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91518	0.5232	10	0.87932	D	0	-19.296	19.5899	0.95506	0.0:1.0:0.0:0.0	.	196;167	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	E	167;196;167;167;167;167;167	ENSP00000331664:G167E;ENSP00000376900:G196E;ENSP00000449022:G167E;ENSP00000446647:G167E;ENSP00000447253:G167E;ENSP00000449172:G167E	ENSP00000331664:G167E	G	-	2	0	MGAT4C	84898135	1.000000	0.71417	0.926000	0.36857	0.012000	0.07955	7.814000	0.86154	2.612000	0.88384	0.655000	0.94253	GGA		PASS	0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		45	81	45	81	---	---	---	---
NTN4	59277	broad.mit.edu	37	12	96104392	96104392	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:96104392C>G	ENST00000343702.4	-	5	1455	c.1007G>C	c.(1006-1008)gGg>gCg	p.G336A	NTN4_ENST00000553059.1_Missense_Mutation_p.G336A|NTN4_ENST00000552603.1_5'Flank|NTN4_ENST00000344911.4_Missense_Mutation_p.G299A|NTN4_ENST00000538383.1_Missense_Mutation_p.G299A	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	336	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.G336A(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATCAGCATGCCCATTACACTT	0.423																																						uc001tei.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1006-1008)GGG>GCG		netrin 4 precursor							120.0	90.0	100.0					12																	96104392		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96104392C>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1007G>C	12.37:g.96104392C>G	ENSP00000340998:p.Gly336Ala					NTN4_uc009ztf.2_Missense_Mutation_p.G336A|NTN4_uc009ztg.2_Missense_Mutation_p.G299A	p.G336A	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			5	1456	-			336			Laminin EGF-like 2.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1007G>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580326	0.65992	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.29	5.29	0.74685	EGF-like, laminin (3);	0.095779	0.64402	D	0.000001	D	0.84515	0.5489	H	0.95816	3.725	0.49483	D	0.99979	D;D	0.57899	0.968;0.981	P;P	0.62014	0.747;0.897	D	0.87704	0.2562	10	0.48119	T	0.1	.	19.3153	0.94211	0.0:1.0:0.0:0.0	.	336;336	Q9HB63-2;Q9HB63	.;NET4_HUMAN	A	336;299;299;336	ENSP00000340998:G336A;ENSP00000339436:G299A;ENSP00000444432:G299A;ENSP00000447292:G336A	ENSP00000340998:G336A	G	-	2	0	NTN4	94628523	0.433000	0.25562	1.000000	0.80357	0.532000	0.34746	1.936000	0.40183	2.653000	0.90120	0.655000	0.94253	GGG		PASS	0.423	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		60	17	60	17	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101520783	101520783	+	Missense_Mutation	SNP	C	C	A	rs139827573		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:101520783C>A	ENST00000392977.3	+	27	3013	c.2803C>A	c.(2803-2805)Cgt>Agt	p.R935S	ANO4_ENST00000392979.3_Missense_Mutation_p.R900S|ANO4_ENST00000550015.1_Missense_Mutation_p.R455S|ANO4_ENST00000299222.9_Missense_Mutation_p.R455S			Q32M45	ANO4_HUMAN	anoctamin 4	935					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2803-2805)CGT>AGT		anoctamin 4							125.0	96.0	106.0					12																	101520783		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520783C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2803C>A	12.37:g.101520783C>A	ENSP00000376703:p.Arg935Ser	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R900S|ANO4_uc001thx.2_Missense_Mutation_p.R935S|ANO4_uc001thy.2_Missense_Mutation_p.R455S	p.R935S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			27	3375	+			935			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2803C>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360601	0.82353	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69561	-0.4;-0.27;-0.41;-0.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	N	0.14661	0.345	0.53005	D	0.999968	P;P;P	0.52692	0.928;0.955;0.928	P;P;P	0.46419	0.516;0.449;0.516	T	0.61108	-0.7129	10	0.52906	T	0.07	.	14.7364	0.69419	0.1447:0.8553:0.0:0.0	.	455;935;900	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	900;455;935;455	ENSP00000376705:R900S;ENSP00000299222:R455S;ENSP00000376703:R935S;ENSP00000450192:R455S	ENSP00000299222:R455S	R	+	1	0	ANO4	100044914	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.442000	0.44873	2.769000	0.95229	0.655000	0.94253	CGT		PASS	0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		39	22	39	22	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114793441	114793441	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr12:114793441G>A	ENST00000310346.4	-	9	2119	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	TBX5_ENST00000349716.5_Missense_Mutation_p.P435S|TBX5_ENST00000405440.2_Missense_Mutation_p.P485S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	485					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P485S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGGAACTCAGGGGGCTGAAGG	0.607																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1453-1455)CCT>TCT		T-box 5 isoform 1							52.0	52.0	52.0					12																	114793441		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793441G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1453C>T	12.37:g.114793441G>A	ENSP00000309913:p.Pro485Ser					TBX5_uc001tvp.2_Missense_Mutation_p.P485S|TBX5_uc001tvq.2_Missense_Mutation_p.P435S	p.P485S	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1948	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		485					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1453C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393350	0.25205	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.87334	-2.21;-2.24;-2.24	5.42	3.4	0.38934	.	0.312221	0.35466	N	0.003181	T	0.67373	0.2886	N	0.14661	0.345	0.33437	D	0.581843	B	0.06786	0.001	B	0.06405	0.002	T	0.58375	-0.7647	10	0.05959	T	0.93	.	1.8655	0.03198	0.155:0.4002:0.3024:0.1423	.	485	Q99593	TBX5_HUMAN	S	435;485;485	ENSP00000337723:P435S;ENSP00000309913:P485S;ENSP00000384152:P485S	ENSP00000309913:P485S	P	-	1	0	TBX5	113277824	1.000000	0.71417	0.020000	0.16555	0.888000	0.51559	3.256000	0.51492	1.134000	0.42165	0.655000	0.94253	CCT		PASS	0.607	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		101	52	101	52	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48916733	48916733	+	Splice_Site	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr13:48916733A>G	ENST00000267163.4	+	3	402		c.e3-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTTGTTCCCAGGGAGGTTAT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		20	Whole gene deletion(15)|Unknown(5)		bone(10)|lung(3)|eye(2)|breast(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS050403	RB1	S		c.e3-2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						59.0	68.0	65.0					13																	48916733		2202	4300	6502	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916733A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.265-1A>G	13.37:g.48916733A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.G89_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	431	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.265_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599591	0.66332	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0881	0.53708	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47814734	0.995000	0.38212	0.932000	0.37286	0.934000	0.57294	2.967000	0.49216	2.155000	0.67459	0.491000	0.48974	.		PASS	0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	45	11	45	11	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67800906	67800906	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr13:67800906G>T	ENST00000377865.2	-	1	1801	c.1667C>A	c.(1666-1668)gCg>gAg	p.A556E	PCDH9_ENST00000456367.1_Missense_Mutation_p.A556E|PCDH9_ENST00000544246.1_Missense_Mutation_p.A556E|PCDH9_ENST00000328454.5_Missense_Mutation_p.A556E|PCDH9_ENST00000377861.3_Missense_Mutation_p.A556E			Q9HC56	PCDH9_HUMAN	protocadherin 9	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A556E(1)|p.A556V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATCACAGCCGCTTGGCTTTG	0.418																																						uc001vik.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1666-1668)GCG>GAG		protocadherin 9 isoform 1 precursor							85.0	90.0	88.0					13																	67800906		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800906G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1667C>A	13.37:g.67800906G>T	ENSP00000367096:p.Ala556Glu					PCDH9_uc001vil.2_Missense_Mutation_p.A556E|PCDH9_uc010thl.1_Missense_Mutation_p.A556E|PCDH9_uc001vin.3_Missense_Mutation_p.A556E	p.A556E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2359	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	556			Extracellular (Potential).|Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1667C>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.378846	0.61735	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.983;0.989;0.993	D	0.87208	0.2245	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	556;556;556;556	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	556	ENSP00000442186:A556E;ENSP00000367096:A556E;ENSP00000401699:A556E;ENSP00000332060:A556E;ENSP00000367092:A556E	ENSP00000332060:A556E	A	-	2	0	PCDH9	66698907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	GCG		PASS	0.418	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		168	57	168	57	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109777485	109777485	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr13:109777485G>A	ENST00000357550.2	+	29	3536	c.3495G>A	c.(3493-3495)caG>caA	p.Q1165Q	MYO16_ENST00000457511.2_Silent_p.Q677Q|MYO16_ENST00000356711.2_Silent_p.Q1165Q	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q1165Q(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAGCACGCCAGCACCTGCTTC	0.408																																						uc001vqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3493-3495)CAG>CAA		myosin heavy chain Myr 8							62.0	61.0	61.0					13																	109777485		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777485G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3495G>A	13.37:g.109777485G>A						MYO16_uc010agk.1_Silent_p.Q1187Q|MYO16_uc010tjh.1_Silent_p.Q677Q	p.Q1165Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3621	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1165			IQ.			Silent	SNP	ENST00000357550.2	37	c.3495G>A	CCDS32008.1																																																																																				PASS	0.408	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		3	65	3	65	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248790	20248790	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:20248790C>T	ENST00000315957.4	+	1	390	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F103F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTCTTCTTCTTACACTTTG	0.458																																						uc010tku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(307-309)TTC>TTT		olfactory receptor, family 4, subfamily M,							239.0	258.0	252.0					14																	20248790		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248790C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.309C>T	14.37:g.20248790C>T							p.F103F	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	309	+	all_cancers(95;0.00108)		103			Helical; Name=3; (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.309C>T	CCDS32021.1																																																																																				PASS	0.458	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			215	442	215	442	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295820	20295820	+	Silent	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:20295820A>G	ENST00000315947.1	+	1	213	c.213A>G	c.(211-213)gcA>gcG	p.A71A	OR4N2_ENST00000568211.1_Silent_p.A71A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A71A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTGGATGCATCCTACTCCT	0.493																																						uc010tkv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(211-213)GCA>GCG		olfactory receptor, family 4, subfamily N,							159.0	187.0	177.0					14																	20295820		2203	4297	6500	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295820A>G		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.213A>G	14.37:g.20295820A>G							p.A71A	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	213	+	all_cancers(95;0.00108)		71			Helical; Name=2; (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.213A>G	CCDS32022.1																																																																																				PASS	0.493	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			54	537	54	537	---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20666364	20666364	+	Nonsense_Mutation	SNP	C	C	A	rs376290528		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:20666364C>A	ENST00000357366.3	+	1	870	c.870C>A	c.(868-870)taC>taA	p.Y290*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290*(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTGTTCTACGGCTCAGTAC	0.507																																						uc010tlb.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(868-870)TAC>TAA		olfactory receptor, family 11, subfamily G,		C	stop/TYR	0,4406		0,0,2203	163.0	155.0	158.0		870	1.0	1.0	14		158	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR11G2	NM_001005503.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		290/346	20666364	1,13005	2203	4300	6503	SO:0001587	stop_gained	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666364C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.870C>A	14.37:g.20666364C>A	ENSP00000349930:p.Tyr290*						p.Y290*	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	870	+	all_cancers(95;0.00108)		290			Helical; Name=6; (Potential).		Q6IF09|Q96R33	Nonsense_Mutation	SNP	ENST00000357366.3	37	c.870C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	11.21	1.572346	0.28092	0.0	1.16E-4	ENSG00000196832	ENST00000357366	.	.	.	4.94	1.03	0.20045	.	0.000000	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.882	0.29627	0.0:0.4348:0.0:0.5652	.	.	.	.	X	290	.	ENSP00000349930:Y290X	Y	+	3	2	OR11G2	19736204	0.000000	0.05858	0.999000	0.59377	0.004000	0.04260	-0.782000	0.04643	0.380000	0.24823	-0.290000	0.09829	TAC		PASS	0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			151	408	151	408	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20854783	20854783	+	Splice_Site	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:20854783C>G	ENST00000262715.5	-	19	2725		c.e19-1		TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.?(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGCGCCATCTGGGGATAAG	0.577																																						uc001vxe.2																			1	Unknown(1)		lung(1)	ovary(5)	5						c.e19-1		telomerase-associated protein 1							32.0	33.0	33.0					14																	20854783		2203	4300	6503	SO:0001630	splice_region_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854783C>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2685-1G>C	14.37:g.20854783C>G						TEP1_uc010ahk.2_Splice_Site_p.G245_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.G787_splice	p.G895_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	19	2725	-	all_cancers(95;0.00123)	all_lung(585;0.235)						A0AUV9	Splice_Site	SNP	ENST00000262715.5	37	c.2685_splice	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150650	0.78001	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5272	0.87804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19924623	1.000000	0.71417	0.984000	0.44739	0.916000	0.54674	6.001000	0.70685	2.423000	0.82170	0.655000	0.94253	.		PASS	0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	Intron	20	49	20	49	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21623814	21623814	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:21623814T>A	ENST00000304418.3	-	1	408	c.371A>T	c.(370-372)tAc>tTc	p.Y124F		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y124F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CGTGGAGGAGTAGCAGAAATC	0.527																																						uc010tlp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(370-372)TAC>TTC		olfactory receptor, family 5, subfamily AU,							94.0	79.0	84.0					14																	21623814		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623814T>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.371A>T	14.37:g.21623814T>A	ENSP00000302057:p.Tyr124Phe						p.Y124F	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	371	-	all_cancers(95;0.00238)		124			Helical; Name=2; (Potential).		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.371A>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	T	8.676	0.904055	0.17760	.	.	ENSG00000169327	ENST00000304418	T	0.00428	7.44	4.58	0.823	0.18812	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.13371	0.34	0.34159	D	0.66846	P	0.35307	0.494	B	0.34138	0.176	T	0.62348	-0.6873	9	0.66056	D	0.02	.	4.1199	0.10101	0.153:0.1795:0.0:0.6674	.	124	Q8NGC0	O5AU1_HUMAN	F	124	ENSP00000302057:Y124F	ENSP00000302057:Y124F	Y	-	2	0	OR5AU1	20693654	0.000000	0.05858	0.983000	0.44433	0.068000	0.16541	-0.061000	0.11693	0.280000	0.22209	0.402000	0.26972	TAC		PASS	0.527	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			75	78	75	78	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21624025	21624025	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:21624025C>A	ENST00000304418.3	-	1	197	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G54W(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGGTTTGCCCCTTTCATCCTT	0.547																																						uc010tlp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(160-162)GGG>TGG		olfactory receptor, family 5, subfamily AU,							148.0	124.0	132.0					14																	21624025		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624025C>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.160G>T	14.37:g.21624025C>A	ENSP00000302057:p.Gly54Trp						p.G54W	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	160	-	all_cancers(95;0.00238)		54			Extracellular (Potential).		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.160G>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164177	0.21538	.	.	ENSG00000169327	ENST00000304418	T	0.03065	4.06	4.79	0.656	0.17844	.	.	.	.	.	T	0.02767	0.0083	N	0.20445	0.575	0.09310	N	1	B	0.15141	0.012	B	0.15484	0.013	T	0.43114	-0.9411	9	0.66056	D	0.02	.	5.8706	0.18801	0.0:0.5846:0.1442:0.2712	.	54	Q8NGC0	O5AU1_HUMAN	W	54	ENSP00000302057:G54W	ENSP00000302057:G54W	G	-	1	0	OR5AU1	20693865	0.000000	0.05858	0.535000	0.28026	0.660000	0.38997	0.001000	0.13038	0.150000	0.19136	0.491000	0.48974	GGG		PASS	0.547	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			58	157	58	157	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23521275	23521275	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:23521275C>T	ENST00000267383.5	-	8	1473	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	CDH24_ENST00000485922.1_5'Flank|CDH24_ENST00000397359.3_Missense_Mutation_p.E461K|CDH24_ENST00000487137.2_Intron|CDH24_ENST00000554034.1_Intron			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	461	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.E461K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CAGCCCCTTTCTGGCCCCCAG	0.592																																						uc001wil.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1381-1383)GAA>AAA		cadherin-like 24 isoform 1							19.0	17.0	18.0					14																	23521275		2198	4286	6484	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23521275C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1381G>A	14.37:g.23521275C>T	ENSP00000267383:p.Glu461Lys					CDH24_uc001wik.3_5'Flank|CDH24_uc010akf.2_Intron	p.E461K	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	9	1641	-	all_cancers(95;3.3e-05)		461			Cadherin 4.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1381G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	2.812	-0.246697	0.05867	.	.	ENSG00000139880	ENST00000397359;ENST00000267383	T;T	0.54279	0.58;0.58	3.39	-3.45	0.04781	Cadherin (2);Cadherin-like (1);	11.457600	0.00907	U	0.002434	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05115	-1.0905	10	0.34782	T	0.22	.	1.1406	0.01765	0.1497:0.3289:0.1475:0.3739	.	461	Q86UP0	CAD24_HUMAN	K	461	ENSP00000380517:E461K;ENSP00000267383:E461K	ENSP00000267383:E461K	E	-	1	0	CDH24	22591115	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.385000	0.02540	-0.864000	0.04078	0.555000	0.69702	GAA		PASS	0.592	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	14	8	14	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356796	42356796	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:42356796C>G	ENST00000298119.4	+	3	2157	c.968C>G	c.(967-969)cCt>cGt	p.P323R	LRFN5_ENST00000554171.1_Missense_Mutation_p.P323R|LRFN5_ENST00000554120.1_Missense_Mutation_p.P323R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	323	Ig-like.					integral component of membrane (GO:0016021)		p.P323R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGATTTCTCCTGAAGGGAAG	0.458										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(967-969)CCT>CGT		leucine rich repeat and fibronectin type III							123.0	119.0	121.0					14																	42356796		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356796C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.968C>G	14.37:g.42356796C>G	ENSP00000298119:p.Pro323Arg	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.P323R	p.P323R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2166	+			323			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.968C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251729	0.59212	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.73363	-0.74;-0.74;-0.74	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	D	0.86003	0.5829	M	0.77486	2.375	0.80722	D	1	P;D	0.64830	0.937;0.994	P;D	0.69142	0.874;0.962	D	0.87262	0.2280	10	0.72032	D	0.01	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	323;323	G3V364;Q96NI6	.;LRFN5_HUMAN	R	323	ENSP00000298119:P323R;ENSP00000451897:P323R;ENSP00000451067:P323R	ENSP00000298119:P323R	P	+	2	0	LRFN5	41426546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.680000	0.91292	0.563000	0.77884	CCT		PASS	0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		98	209	98	209	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975893	44975893	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:44975893C>T	ENST00000340446.4	-	1	589	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	100						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.D100N(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTCTAACATCAGCTGACTTT	0.403																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(298-300)GAT>AAT		fibrous sheath CABYR binding protein							200.0	195.0	197.0					14																	44975893		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975893C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.298G>A	14.37:g.44975893C>T	ENSP00000344579:p.Asp100Asn						p.D100N	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	607	-			100					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.298G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.643011	0.00792	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12147	2.71	4.74	-2.24	0.06909	.	.	.	.	.	T	0.08133	0.0203	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.41034	-0.9531	9	0.20046	T	0.44	-0.0265	10.0399	0.42151	0.0:0.4752:0.0:0.5248	.	100	Q5H9T9	FSCB_HUMAN	N	100	ENSP00000344579:D100N	ENSP00000344579:D100N	D	-	1	0	FSCB	44045643	0.011000	0.17503	0.000000	0.03702	0.278000	0.26855	0.167000	0.16602	-0.524000	0.06400	0.561000	0.74099	GAT		PASS	0.403	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		246	262	246	262	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52735279	52735279	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:52735279C>A	ENST00000306051.2	+	1	849	c.747C>A	c.(745-747)gaC>gaA	p.D249E	PTGDR_ENST00000553372.1_Missense_Mutation_p.D249E	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	249					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.D249E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCGCGCGGACGGGAGGGAAG	0.667																																						uc001wzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(745-747)GAC>GAA		prostaglandin D2 receptor	Nedocromil(DB00716)						53.0	55.0	54.0					14																	52735279		2199	4296	6495	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735279C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.747C>A	14.37:g.52735279C>A	ENSP00000303424:p.Asp249Glu						p.D249E	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	849	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		249			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.747C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	0.613	-0.824318	0.02755	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.16196	2.36;2.7	4.11	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.524947	0.16150	N	0.227327	T	0.10551	0.0258	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.22152	0.038	T	0.35450	-0.9788	10	0.02654	T	1	-4.1914	9.9328	0.41532	0.0:0.7931:0.2069:0.0	.	249	Q13258	PD2R_HUMAN	E	249	ENSP00000303424:D249E;ENSP00000452408:D249E	ENSP00000303424:D249E	D	+	3	2	PTGDR	51805029	0.001000	0.12720	0.006000	0.13384	0.004000	0.04260	1.332000	0.33805	1.278000	0.44430	0.563000	0.77884	GAC		PASS	0.667	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		120	295	120	295	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53619162	53619162	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:53619162T>A	ENST00000323669.5	-	1	654	c.655A>T	c.(655-657)Acg>Tcg	p.T219S	AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000395606.1_Missense_Mutation_p.T219S|DDHD1_ENST00000357758.3_Missense_Mutation_p.T219S|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	219					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T219S(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GCTGGGCCCGTGGGGGAGCAC	0.701																																						uc001xai.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(655-657)ACG>TCG		DDHD domain containing 1 isoform c							20.0	21.0	20.0					14																	53619162		2201	4300	6501	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619162T>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.655A>T	14.37:g.53619162T>A	ENSP00000327104:p.Thr219Ser					DDHD1_uc001xaj.2_Missense_Mutation_p.T219S|DDHD1_uc001xah.2_Missense_Mutation_p.T219S	p.T219S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			1	885	-	Breast(41;0.037)		219					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.655A>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.865405	0.00547	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758	.	.	.	2.1	-2.29	0.06805	.	0.875879	0.09385	N	0.809425	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.04013	0.001;0.0;0.001	T	0.30031	-0.9992	9	0.13470	T	0.59	.	0.2453	0.00198	0.2032:0.2698:0.2011:0.3259	.	219;219;219	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	219	.	ENSP00000327104:T219S	T	-	1	0	DDHD1	52688912	0.065000	0.20965	0.048000	0.18961	0.006000	0.05464	0.188000	0.17018	0.062000	0.16340	-0.624000	0.04008	ACG		PASS	0.701	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			23	52	23	52	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65263341	65263341	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:65263341C>A	ENST00000389721.5	-	10	1307	c.1275G>T	c.(1273-1275)cgG>cgT	p.R425R	SPTB_ENST00000542895.1_Silent_p.R425R|SPTB_ENST00000556626.1_Silent_p.R425R|SPTB_ENST00000389722.3_Silent_p.R425R|SPTB_ENST00000389720.3_Silent_p.R425R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	425					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R425R(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCAAAGCGCCGGGCCAGTT	0.597																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1273-1275)CGG>CGT		spectrin beta isoform b							63.0	65.0	64.0					14																	65263341		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65263341C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1275G>T	14.37:g.65263341C>A						SPTB_uc001xhr.2_Silent_p.R425R|SPTB_uc001xhs.2_Silent_p.R425R|SPTB_uc001xhu.2_Silent_p.R425R	p.R425R	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	10	1329	-		all_lung(585;4.15e-09)	425			Spectrin 2.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.1275G>T	CCDS32100.1																																																																																				PASS	0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			44	144	44	144	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76906013	76906013	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:76906013G>A	ENST00000509242.1	+	3	415	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_Missense_Mutation_p.C106Y|ESRRB_ENST00000261532.7_Missense_Mutation_p.C106Y|ESRRB_ENST00000556177.1_Missense_Mutation_p.C106Y	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	106					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C106Y(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCTCGTGTGCGGGGACATT	0.617																																						uc001xsq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(316-318)TGC>TAC		estrogen-related receptor beta							59.0	55.0	56.0					14																	76906013		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76906013G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.317G>A	14.37:g.76906013G>A	ENSP00000422488:p.Cys106Tyr					ESRRB_uc001xsr.2_Missense_Mutation_p.C106Y|ESRRB_uc001xso.2_RNA	p.C106Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	384	+			106					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.317G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641760	0.87859	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95773	0.8810	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	106;111	Q5F0P7;E7EWD9	.;.	Y	111;106;106;106;106	ENSP00000424992:C111Y;ENSP00000422488:C106Y;ENSP00000451658:C106Y;ENSP00000370270:C106Y;ENSP00000261532:C106Y	ENSP00000261532:C106Y	C	+	2	0	ESRRB	75975766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.818000	0.99354	2.377000	0.81083	0.655000	0.94253	TGC		PASS	0.617	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			37	98	37	98	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96777896	96777896	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr14:96777896C>T	ENST00000359933.4	-	27	4866	c.3973G>A	c.(3973-3975)Gat>Aat	p.D1325N	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1325					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.D1325N(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCATCAGAATCAGACTTCACT	0.289																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(3973-3975)GAT>AAT		ATG2 autophagy related 2 homolog B							48.0	50.0	49.0					14																	96777896		2199	4298	6497	SO:0001583	missense	55102							g.chr14:96777896C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3973G>A	14.37:g.96777896C>T	ENSP00000353010:p.Asp1325Asn						p.D1325N	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	27	4338	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1325					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3973G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316377	0.23908	.	.	ENSG00000066739	ENST00000359933	T	0.09163	3.01	5.67	5.67	0.87782	.	0.258506	0.39020	N	0.001497	T	0.09158	0.0226	N	0.05078	-0.115	0.50313	D	0.999861	P	0.43938	0.822	P	0.45998	0.5	T	0.46857	-0.9161	10	0.18710	T	0.47	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1325	Q96BY7	ATG2B_HUMAN	N	1325	ENSP00000353010:D1325N	ENSP00000353010:D1325N	D	-	1	0	ATG2B	95847649	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.174000	0.58256	2.671000	0.90904	0.557000	0.71058	GAT		PASS	0.289	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		5	51	5	51	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369109	22369111	+	Missense_Mutation	TNP	CTG	CTG	TGT			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:22369109_22369111CTG>TGT	ENST00000332663.2	+	1	632_634	c.534_536CTG>TGT	c.(532-537)ttCTGt>ttTGTt	p.C179V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F178F(1)|p.C179G(1)|p.C179F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAGTTACTTCTGTGACATCACA	0.488																																						uc010tzu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(532-534)TTC>TTT|c.(535-537)TGT>GGT|c.(535-537)TGT>TTT		olfactory receptor, family 4, subfamily M,																																				SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369109C>T|g.chr15:22369110T>G|g.chr15:22369111G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.534_536CTG>TGT	15.37:g.22369109CTG>TGT	ENSP00000329467:p.Cys179Val					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.F178F|p.C179G|p.C179F	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	534|535|536	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	178|179|179			Extracellular (Potential).		B9EH16|Q6IEY2	Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000332663.2	37	c.534C>T|c.535T>G|c.536G>T	CCDS32172.1																																																																																				PASS	0.488	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			26|23|22	352|354|352	22	352	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28544607	28544608	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:28544607_28544608CC>AT	ENST00000261609.7	-	3	235_236	c.127_128GG>AT	c.(127-129)GGa>ATa	p.G43I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G43I(1)|p.G43R(1)|p.G43V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TACAATTTCTCCATCTTTAACC	0.421																																						uc001zbj.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(127-129)GGA>GTA|c.(127-129)GGA>AGA		hect domain and RLD 2																																				SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28544607C>A|g.chr15:28544608C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.127_128delinsAT	15.37:g.28544607_28544608delinsAT	ENSP00000261609:p.Gly43Ile					HERC2_uc001zbl.1_5'UTR	p.G43V|p.G43R	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	3	234|233	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	43			WD 1.			Missense_Mutation	SNP	ENST00000261609.7	37	c.128G>T|c.127G>A	CCDS10021.1																																																																																				PASS	0.421	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		100|98	31|33	98	31	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31196869	31196869	+	Start_Codon_SNP	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:31196869G>A	ENST00000362065.4	+	2	294	c.3G>A	c.(1-3)atG>atA	p.M1I	FAN1_ENST00000561594.1_Start_Codon_SNP_p.M1I|FAN1_ENST00000565466.1_Start_Codon_SNP_p.M1I|FAN1_ENST00000561607.1_Start_Codon_SNP_p.M1I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	1					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.M1I(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAATACTCATGATGTCAGAAG	0.328								Direct reversal of damage																														uc001zff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							82.0	94.0	90.0					15																	31196869		2202	4299	6501	SO:0001582	initiator_codon_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196869G>A		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.3G>A	15.37:g.31196869G>A	ENSP00000354497:p.Met1Ile					MTMR15_uc001zfc.3_Missense_Mutation_p.M1I|MTMR15_uc010azw.2_Missense_Mutation_p.M1I|MTMR15_uc001zfd.3_Missense_Mutation_p.M1I|MTMR15_uc001zfe.2_5'UTR	p.M1I	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	294	+		all_lung(180;2.23e-09)	1					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.3G>A	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	g	7.527	0.657786	0.14645	.	.	ENSG00000198690	ENST00000362065	T	0.78003	-1.14	5.13	-2.39	0.06602	.	1.210630	0.05626	N	0.580918	T	0.57007	0.2024	.	.	.	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	9	0.27082	T	0.32	-0.9998	1.1371	0.01757	0.368:0.1087:0.3038:0.2196	.	1;1	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	I	1	ENSP00000354497:M1I	ENSP00000354497:M1I	M	+	3	0	FAN1	28984161	0.002000	0.14202	0.003000	0.11579	0.171000	0.22731	-0.369000	0.07533	-0.331000	0.08501	-0.300000	0.09419	ATG		PASS	0.328	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	Missense_Mutation	219	75	219	75	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40954333	40954333	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:40954333G>T	ENST00000346991.5	+	27	7366	c.6976G>T	c.(6976-6978)Gta>Tta	p.V2326L	CASC5_ENST00000399668.2_Missense_Mutation_p.V2300L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2326					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V2326L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CCTGAAGAATGTAGTCAAGCA	0.388																																						uc010bbs.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(6976-6978)GTA>TTA		cancer susceptibility candidate 5 isoform 1							214.0	197.0	202.0					15																	40954333		1926	4142	6068	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40954333G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6976G>T	15.37:g.40954333G>T	ENSP00000335463:p.Val2326Leu					CASC5_uc010bbt.1_Missense_Mutation_p.V2300L	p.V2326L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	27	7137	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2326					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6976G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495749	0.44352	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.05447	3.44;3.44	5.68	4.74	0.60224	.	0.400623	0.21749	U	0.069704	T	0.08891	0.0220	L	0.44542	1.39	0.24308	N	0.995093	P;P	0.47191	0.891;0.891	P;P	0.47299	0.543;0.543	T	0.16394	-1.0404	10	0.62326	D	0.03	.	7.4465	0.27213	0.2396:0.0:0.7604:0.0	.	2300;2326	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	L	2326;2300	ENSP00000335463:V2326L;ENSP00000382576:V2300L	ENSP00000335463:V2326L	V	+	1	0	CASC5	38741625	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	1.047000	0.30367	1.341000	0.45600	0.561000	0.74099	GTA		PASS	0.388	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		342	99	342	99	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48414135	48414135	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:48414135G>T	ENST00000341459.3	+	2	276	c.203G>T	c.(202-204)gGc>gTc	p.G68V	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Missense_Mutation_p.G68V	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	68					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.G68V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AGAGATGGAGGCATCATAATC	0.418																																						uc001zwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GGC>GTC		solute carrier family 24, member 5 precursor							189.0	181.0	184.0					15																	48414135		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414135G>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.203G>T	15.37:g.48414135G>T	ENSP00000341550:p.Gly68Val					SLC24A5_uc001zwd.2_Missense_Mutation_p.G68V|SLC24A5_uc010bel.2_Intron	p.G68V	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	276	+		all_lung(180;0.00217)	68			Helical; Name=1; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.203G>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945260	0.92593	.	.	ENSG00000188467	ENST00000341459	T	0.76060	-0.99	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82938	-0.0209	10	0.59425	D	0.04	.	19.8551	0.96755	0.0:0.0:1.0:0.0	.	68;68	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	V	68	ENSP00000341550:G68V	ENSP00000341550:G68V	G	+	2	0	SLC24A5	46201427	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	9.512000	0.98008	2.861000	0.98227	0.655000	0.94253	GGC		PASS	0.418	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		140	51	140	51	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74467980	74467980	+	Missense_Mutation	SNP	G	G	T	rs375982170		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:74467980G>T	ENST00000249842.3	+	2	1138	c.781G>T	c.(781-783)Ggg>Tgg	p.G261W	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.G261W	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	261	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.G261W(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGATGTGGACGGGCAGCCGGC	0.647																																						uc002axg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(781-783)GGG>TGG		immunoglobulin superfamily containing							58.0	59.0	58.0					15																	74467980		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467980G>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.781G>T	15.37:g.74467980G>T	ENSP00000249842:p.Gly261Trp					ISLR_uc002axh.1_Missense_Mutation_p.G261W	p.G261W	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	1063	+			261			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.781G>T	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285207	0.40394	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.80123	-1.34;-1.34	4.21	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122583	0.34986	U	0.003532	D	0.93083	0.7798	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95094	0.8224	10	0.87932	D	0	.	13.1516	0.59492	0.0:0.1618:0.8382:0.0	.	261	O14498	ISLR_HUMAN	W	261	ENSP00000249842:G261W;ENSP00000378550:G261W	ENSP00000249842:G261W	G	+	1	0	ISLR	72255033	1.000000	0.71417	0.887000	0.34795	0.179000	0.23085	3.669000	0.54561	1.902000	0.55061	0.313000	0.20887	GGG		PASS	0.647	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		67	76	67	76	---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75684663	75684663	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr15:75684663C>G	ENST00000394947.3	-	15	3085	c.2771G>C	c.(2770-2772)aGa>aCa	p.R924T	SIN3A_ENST00000360439.4_Missense_Mutation_p.R924T|SIN3A_ENST00000394949.4_Missense_Mutation_p.R924T	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.R924T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TTCCCATTCTCTCTCTCGGTT	0.498																																						uc002bai.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)	5						c.(2770-2772)AGA>ACA		transcriptional co-repressor Sin3A							178.0	164.0	169.0					15																	75684663		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684663C>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2771G>C	15.37:g.75684663C>G	ENSP00000378402:p.Arg924Thr					SIN3A_uc002baj.2_Missense_Mutation_p.R924T|SIN3A_uc010uml.1_Missense_Mutation_p.R924T	p.R924T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			15	3030	-			924						Missense_Mutation	SNP	ENST00000394947.3	37	c.2771G>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981133	0.74474	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.45276	0.9;0.9;0.9	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.74881	2.28	0.80722	D	1	P	0.38395	0.629	B	0.43331	0.416	T	0.46830	-0.9163	10	0.25751	T	0.34	-16.5735	18.6178	0.91310	0.0:1.0:0.0:0.0	.	924	Q96ST3	SIN3A_HUMAN	T	924	ENSP00000378402:R924T;ENSP00000378403:R924T;ENSP00000353622:R924T	ENSP00000353622:R924T	R	-	2	0	SIN3A	73471716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.934000	0.63491	2.644000	0.89710	0.655000	0.94253	AGA		PASS	0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		88	208	88	208	---	---	---	---
SNRNP25	79622	broad.mit.edu	37	16	107122	107122	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:107122C>T	ENST00000383018.3	+	5	539	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	126	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)		p.I126I(1)		large_intestine(1)|lung(2)	3						TTTCCTTCATCAAAAAGCTGA	0.512																																						uc002cfj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)ATC>ATT		U11/U12 snRNP 25K protein							189.0	185.0	186.0					16																	107122		2203	4300	6503	SO:0001819	synonymous_variant	79622				mRNA processing	U12-type spliceosomal complex		g.chr16:107122C>T	BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.378C>T	16.37:g.107122C>T						SNRNP25_uc002cfk.3_RNA	p.I126I	NM_024571	NP_078847	Q9BV90	SNR25_HUMAN			5	539	+			126			Ubiquitin-like.		Q1W6H3|Q6IEF8|Q9H5W4	Silent	SNP	ENST00000383018.3	37	c.378C>T	CCDS10396.1																																																																																				PASS	0.512	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024571		66	384	66	384	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2153488	2153488	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:2153488G>T	ENST00000262304.4	-	23	8778	c.8570C>A	c.(8569-8571)gCc>gAc	p.A2857D	PKD1_ENST00000423118.1_Missense_Mutation_p.A2857D|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2857					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.A2857D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGCGCCGGCCTGTGTCTG	0.627																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(8569-8571)GCC>GAC		polycystin 1 isoform 1 precursor							25.0	27.0	27.0					16																	2153488		2120	4156	6276	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153488G>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8570C>A	16.37:g.2153488G>T	ENSP00000262304:p.Ala2857Asp					PKD1_uc002cot.1_Missense_Mutation_p.A2857D|PKD1_uc010bse.1_RNA	p.A2857D	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8779	-			2857			Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8570C>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.924166	0.02377	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.71222	-0.55;-0.55	4.62	3.67	0.42095	.	0.161433	0.52532	D	0.000079	T	0.64349	0.2590	M	0.63428	1.95	0.20403	N	0.999907	P;P	0.47545	0.897;0.745	P;B	0.45558	0.485;0.164	T	0.53753	-0.8394	10	0.14252	T	0.57	.	6.2925	0.21067	0.0927:0.0:0.5972:0.3102	.	2857;2857	P98161-3;P98161	.;PKD1_HUMAN	D	2857;2857;2192	ENSP00000262304:A2857D;ENSP00000399501:A2857D	ENSP00000262304:A2857D	A	-	2	0	PKD1	2093489	1.000000	0.71417	0.155000	0.22561	0.050000	0.14768	6.366000	0.73095	1.172000	0.42781	0.555000	0.69702	GCC		PASS	0.627	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			22	138	22	138	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119009	3119009	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:3119009G>C	ENST00000534507.1	+	6	569	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	IL32_ENST00000552356.1_Missense_Mutation_p.E54Q|IL32_ENST00000528163.2_Missense_Mutation_p.E74Q|IL32_ENST00000531965.1_Missense_Mutation_p.E64Q|IL32_ENST00000325568.5_Missense_Mutation_p.E74Q|IL32_ENST00000529699.1_Missense_Mutation_p.E54Q|IL32_ENST00000551513.1_Missense_Mutation_p.E111Q|IL32_ENST00000530890.1_Missense_Mutation_p.E54Q|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551122.1_Missense_Mutation_p.E74Q|IL32_ENST00000548652.1_Missense_Mutation_p.E65Q|IL32_ENST00000396887.3_Missense_Mutation_p.E74Q|IL32_ENST00000548246.1_Missense_Mutation_p.E34Q|IL32_ENST00000549213.1_Missense_Mutation_p.E74Q|IL32_ENST00000548476.1_Missense_Mutation_p.E120Q|IL32_ENST00000396890.2_Missense_Mutation_p.E120Q|IL32_ENST00000444393.3_Missense_Mutation_p.E74Q|IL32_ENST00000530538.2_Missense_Mutation_p.E74Q|IL32_ENST00000008180.9_Missense_Mutation_p.E54Q|IL32_ENST00000526464.2_Missense_Mutation_p.E74Q|IL32_ENST00000525643.2_Missense_Mutation_p.E74Q|IL32_ENST00000552664.1_Missense_Mutation_p.E74Q|IL32_ENST00000552936.1_Missense_Mutation_p.E98Q|IL32_ENST00000440815.3_Missense_Mutation_p.E74Q|IL32_ENST00000533097.2_Missense_Mutation_p.E74Q|IL32_ENST00000382213.3_Missense_Mutation_p.E65Q|IL32_ENST00000529550.1_Missense_Mutation_p.E74Q			P24001	IL32_HUMAN	interleukin 32	120					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.E74Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCCTCTACTTGAAAAAGAAAG	0.582																																						uc002cto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(358-360)GAA>CAA		interleukin 32 isoform B							8.0	11.0	10.0					16																	3119009		2076	4178	6254	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119009G>C	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.358G>C	16.37:g.3119009G>C	ENSP00000431775:p.Glu120Gln					IL32_uc002ctk.2_Missense_Mutation_p.E74Q|IL32_uc010uwp.1_Missense_Mutation_p.E54Q|IL32_uc010btb.2_Missense_Mutation_p.E64Q|IL32_uc002ctl.2_Missense_Mutation_p.E74Q|IL32_uc002ctm.2_Missense_Mutation_p.E74Q|IL32_uc002ctn.2_Missense_Mutation_p.E74Q|IL32_uc002cts.3_Missense_Mutation_p.E74Q|IL32_uc002ctp.2_Missense_Mutation_p.E54Q|IL32_uc002ctq.2_Missense_Mutation_p.E120Q|IL32_uc002ctr.2_Missense_Mutation_p.E54Q|IL32_uc002ctt.2_Missense_Mutation_p.E74Q|IL32_uc010uwr.1_Missense_Mutation_p.E34Q|IL32_uc002ctu.2_Missense_Mutation_p.E65Q	p.E120Q	NM_004221	NP_004212	P24001	IL32_HUMAN			6	569	+			120					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.358G>C		.	.	.	.	.	.	.	.	.	.	G	10.83	1.459803	0.26248	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;0.79;0.79;0.79;2.32;-1.11;-1.11;-1.11;0.79;-1.11;0.79;-1.11;0.79;-1.11;-1.11;0.79;0.79;-1.06;-1.06;-1.11;0.79;0.79;0.79;-1.11;0.79;0.79;-1.06;0.79	1.63	-1.99	0.07457	.	.	.	.	.	T	0.67126	0.2860	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;D	0.54772	0.006;0.006;0.006;0.006;0.006;0.006;0.968	B;B;B;B;B;B;P	0.59546	0.002;0.002;0.002;0.002;0.002;0.002;0.859	T	0.58482	-0.7629	9	0.15066	T	0.55	.	4.3713	0.11249	0.0:0.3281:0.4977:0.1742	.	34;54;65;54;120;74;74	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	Q	74;120;64;74;54;74;74;74;74;74;120;74;54;74;74;54;120;45;65;74;74;98;120;74;54;111;65;34	ENSP00000324742:E74Q;ENSP00000431775:E120Q;ENSP00000433177:E64Q;ENSP00000380096:E74Q;ENSP00000436937:E54Q;ENSP00000450364:E74Q;ENSP00000405063:E74Q;ENSP00000437020:E74Q;ENSP00000447496:E74Q;ENSP00000432218:E74Q;ENSP00000448354:E120Q;ENSP00000432850:E74Q;ENSP00000433747:E54Q;ENSP00000411958:E74Q;ENSP00000432917:E74Q;ENSP00000008180:E54Q;ENSP00000380099:E120Q;ENSP00000431740:E45Q;ENSP00000446624:E65Q;ENSP00000436929:E74Q;ENSP00000447812:E74Q;ENSP00000447033:E98Q;ENSP00000449483:E120Q;ENSP00000448683:E74Q;ENSP00000446978:E54Q;ENSP00000449147:E111Q;ENSP00000371648:E65Q;ENSP00000447979:E34Q	ENSP00000008180:E54Q	E	+	1	0	IL32	3059010	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.827000	0.00746	-0.510000	0.06523	-0.357000	0.07601	GAA		PASS	0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		20	32	20	32	---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4790471	4790471	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:4790471C>T	ENST00000299320.5	+	4	1072	c.594C>T	c.(592-594)gcC>gcT	p.A198A	C16orf71_ENST00000590191.1_Silent_p.A212A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	198								p.A198A(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACCGCCGGGCCCTCCGACAGG	0.612																																						uc002cxn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(592-594)GCC>GCT		hypothetical protein LOC146562							38.0	40.0	39.0					16																	4790471		2197	4300	6497	SO:0001819	synonymous_variant	146562							g.chr16:4790471C>T	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.594C>T	16.37:g.4790471C>T							p.A198A	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			4	1056	+			198					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.594C>T	CCDS10521.1																																																																																				PASS	0.612	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		82	39	82	39	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4882911	4882911	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:4882911G>A	ENST00000321919.9	-	4	234	c.158C>T	c.(157-159)gCc>gTc	p.A53V	GLYR1_ENST00000591451.1_Missense_Mutation_p.A53V|GLYR1_ENST00000381983.3_Missense_Mutation_p.A53V|GLYR1_ENST00000436648.5_Missense_Mutation_p.A53V|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	53	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.A53V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTGATCCAGGCACTAGCAGA	0.403																																						uc002cxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GCC>GTC		cytokine-like nuclear factor n-pac							105.0	94.0	97.0					16																	4882911		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882911G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.158C>T	16.37:g.4882911G>A	ENSP00000322716:p.Ala53Val					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.A53V|GLYR1_uc010uxv.1_Missense_Mutation_p.A53V	p.A53V	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			4	195	-			53			PWWP.		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.158C>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195757	0.94960	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.73789	-0.78;-0.78;-0.78	5.05	5.05	0.67936	PWWP (2);	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	M	0.70595	2.14	0.80722	D	1	P;D;D	0.69078	0.728;0.996;0.997	B;D;D	0.74348	0.156;0.971;0.983	D	0.87067	0.2157	10	0.87932	D	0	-13.5947	17.5436	0.87855	0.0:0.0:1.0:0.0	.	53;53;53	Q49A26-5;Q49A26-3;Q49A26	.;.;GLYR1_HUMAN	V	53	ENSP00000322716:A53V;ENSP00000371413:A53V;ENSP00000390276:A53V	ENSP00000322716:A53V	A	-	2	0	GLYR1	4822912	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.650000	0.98490	2.523000	0.85059	0.462000	0.41574	GCC		PASS	0.403	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		95	37	95	37	---	---	---	---
EARS2	124454	broad.mit.edu	37	16	23546569	23546569	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:23546569C>T	ENST00000563459.1	-	4	604	c.598G>A	c.(598-600)Gac>Aac	p.D200N	EARS2_ENST00000449606.1_Missense_Mutation_p.D200N|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.D200N|EARS2_ENST00000563232.1_Missense_Mutation_p.D200N			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	200					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.D200N(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TAGACCAGGTCCTGGAAGGCT	0.627																																						uc002dlt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GAC>AAC		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						49.0	50.0	50.0					16																	23546569		2084	4211	6295	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23546569C>T	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.598G>A	16.37:g.23546569C>T	ENSP00000456467:p.Asp200Asn					EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.D200N	p.D200N	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	4	630	-			200					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.598G>A	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972098	0.92919	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.47869	0.83	5.56	5.56	0.83823	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	H	0.98951	4.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89590	0.3827	10	0.87932	D	0	-5.643	18.5114	0.90917	0.0:1.0:0.0:0.0	.	200;200	Q86YH3;Q5JPH6	.;SYEM_HUMAN	N	200	ENSP00000395196:D200N	ENSP00000343488:D200N	D	-	1	0	EARS2	23454070	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.341000	0.79300	2.627000	0.88993	0.655000	0.94253	GAC		PASS	0.627	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		23	157	23	157	---	---	---	---
CD19	930	broad.mit.edu	37	16	28944824	28944824	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:28944824C>A	ENST00000324662.3	+	4	873	c.829C>A	c.(829-831)Cgg>Agg	p.R277R	CD19_ENST00000538922.1_Silent_p.R277R|CD19_ENST00000567541.1_Silent_p.R277R			P15391	CD19_HUMAN	CD19 molecule	277	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.R277R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GATCACTGCTCGGCCAGGTAG	0.552																																						uc002drs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(829-831)CGG>AGG		CD19 antigen precursor							58.0	49.0	52.0					16																	28944824		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944824C>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.829C>A	16.37:g.28944824C>A						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.R277R	p.R277R	NM_001770	NP_001761	P15391	CD19_HUMAN			4	891	+			277			Extracellular (Potential).|Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.829C>A	CCDS10644.1																																																																																				PASS	0.552	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			4	117	4	117	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31087665	31087665	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:31087665C>T	ENST00000394979.2	+	1	443	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ZNF668_ENST00000394983.2_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.S7L|ZNF668_ENST00000538906.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S7L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACACCCCCCTCACTCAGCTGC	0.617																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(19-21)TCA>TTA		zinc finger protein 646							67.0	65.0	66.0					16																	31087665		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087665C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.20C>T	16.37:g.31087665C>T	ENSP00000378429:p.Ser7Leu					ZNF668_uc002eao.2_5'Flank	p.S7L	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	309	+			7					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.20C>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.215059	0.39102	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.08807	3.34;3.05;3.08	5.69	2.36	0.29203	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46871	-0.9160	9	0.09843	T	0.71	-3.4928	5.6255	0.17480	0.0:0.6259:0.0:0.3741	.	7	O15015-2	.	L	7	ENSP00000391271:S7L;ENSP00000300850:S7L;ENSP00000378429:S7L	ENSP00000300850:S7L	S	+	2	0	ZNF646	30995166	0.000000	0.05858	0.852000	0.33557	0.289000	0.27227	0.849000	0.27723	0.757000	0.33036	0.563000	0.77884	TCA		PASS	0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		28	187	28	187	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31090223	31090223	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:31090223C>T	ENST00000394979.2	+	1	3001	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L	ZNF646_ENST00000300850.5_Silent_p.L860L			O15015	ZN646_HUMAN	zinc finger protein 646	860					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L860L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTTTGACTCTCTGCCTGCCCT	0.627																																						uc002eap.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(2578-2580)CTG>TTG		zinc finger protein 646							66.0	71.0	69.0					16																	31090223		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090223C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2578C>T	16.37:g.31090223C>T							p.L860L	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	2867	+			860			C2H2-type 15.		Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2578C>T																																																																																					PASS	0.627	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		38	176	38	176	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31090538	31090538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:31090538C>T	ENST00000394979.2	+	1	3316	c.2893C>T	c.(2893-2895)Cag>Tag	p.Q965*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q965*			O15015	ZN646_HUMAN	zinc finger protein 646	965					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q965*(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGCTGTGGTCAGACCTACGA	0.607																																						uc002eap.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)	2						c.(2893-2895)CAG>TAG		zinc finger protein 646							80.0	69.0	73.0					16																	31090538		2197	4299	6496	SO:0001587	stop_gained	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090538C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2893C>T	16.37:g.31090538C>T	ENSP00000378429:p.Gln965*						p.Q965*	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3182	+			965			C2H2-type 17; degenerate.		Q8IVD8	Nonsense_Mutation	SNP	ENST00000394979.2	37	c.2893C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.431714	0.99169	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9777	12.4989	0.55944	0.1673:0.8327:0.0:0.0	.	.	.	.	X	965	.	ENSP00000300850:Q965X	Q	+	1	0	ZNF646	30998039	0.986000	0.35501	0.999000	0.59377	0.634000	0.38068	1.970000	0.40520	2.399000	0.81585	0.563000	0.77884	CAG		PASS	0.607	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		15	192	15	192	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31091162	31091162	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:31091162G>A	ENST00000394979.2	+	1	3940	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1173K			O15015	ZN646_HUMAN	zinc finger protein 646	1173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1173K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGAGGTGTGGGAGGAGACCAC	0.617																																						uc002eap.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(3517-3519)GAG>AAG		zinc finger protein 646							36.0	44.0	41.0					16																	31091162		2195	4299	6494	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091162G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3517G>A	16.37:g.31091162G>A	ENSP00000378429:p.Glu1173Lys						p.E1173K	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3806	+			1173					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3517G>A		.	.	.	.	.	.	.	.	.	.	G	13.56	2.274391	0.40194	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09911	2.93;2.96	5.75	4.8	0.61643	.	.	.	.	.	T	0.07728	0.0194	L	0.27053	0.805	0.34676	D	0.724183	B	0.20550	0.046	B	0.22601	0.04	T	0.14200	-1.0481	9	0.08179	T	0.78	-8.1392	12.024	0.53360	0.081:0.0:0.919:0.0	.	1173	O15015-2	.	K	1173	ENSP00000300850:E1173K;ENSP00000378429:E1173K	ENSP00000300850:E1173K	E	+	1	0	ZNF646	30998663	0.999000	0.42202	1.000000	0.80357	0.868000	0.49771	0.969000	0.29370	1.433000	0.47394	0.563000	0.77884	GAG		PASS	0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		11	56	11	56	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66949990	66949990	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr16:66949990C>T	ENST00000299752.4	-	5	595	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CDH16_ENST00000394055.3_Silent_p.R134R|CDH16_ENST00000565796.1_Silent_p.R134R|CDH16_ENST00000570262.1_Silent_p.R54R|CDH16_ENST00000568632.1_Intron	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	134	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R134R(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCCGGCTCAGCCGAGCTCTGT	0.567																																						uc002eql.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(400-402)CGG>CGA		cadherin 16 precursor							56.0	53.0	54.0					16																	66949990		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66949990C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.402G>A	16.37:g.66949990C>T						CDH16_uc010cdy.2_Silent_p.R134R|CDH16_uc002eqm.2_Intron	p.R134R	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	5	475	-		Ovarian(137;0.0563)	134			Extracellular (Potential).|Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.402G>A	CCDS10823.1																																																																																				PASS	0.567	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		60	24	60	24	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGGCAGCTCGTGGTGAGGC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		164	63	164	63	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10348590	10348590	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:10348590G>A	ENST00000255381.2	-	36	5369	c.5259C>T	c.(5257-5259)cgC>cgT	p.R1753R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1753					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1753R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTCTGCATTGCGGGCTTCCT	0.468																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5257-5259)CGC>CGT		myosin, heavy polypeptide 4, skeletal muscle							255.0	200.0	219.0					17																	10348590		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348590G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5259C>T	17.37:g.10348590G>A						uc002gml.1_Intron	p.R1753R	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			36	5370	-			1753			Potential.			Silent	SNP	ENST00000255381.2	37	c.5259C>T	CCDS11154.1																																																																																				PASS	0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		307	89	307	89	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10427947	10427948	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:10427947_10427948CC>AA	ENST00000245503.5	-	35	5394_5395	c.5010_5011GG>TT	c.(5008-5013)caGGag>caTTag	p.1670_1671QE>H*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.1670_1671QE>H*|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1670					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1671*(1)|p.Q1670H(1)|p.Q1670_E1671>H*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCAGGTCCTCCTGGCTCCGGA	0.569																																						uc010coi.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5011-5013)GAG>TAG|c.(5008-5010)CAG>CAT		myosin heavy chain IIa																																				SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427947C>A|g.chr17:10427948C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5010_5011delinsAA	17.37:g.10427947_10427948delinsAA	ENSP00000245503:p.Q1670_E1671delinsH*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.E1671*|MYH2_uc010coj.2_Intron|uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1670H|MYH2_uc010coj.2_Intron	p.E1671*|p.Q1670H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5139|5138	-			1671|1670			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000245503.5	37	c.5011G>T|c.5010G>T	CCDS11156.1																																																																																				PASS	0.569	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		100	50|49	100	49	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319284	21319284	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:21319284C>T	ENST00000583088.1	+	3	1525	c.630C>T	c.(628-630)tgC>tgT	p.C210C	KCNJ12_ENST00000331718.5_Silent_p.C210C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	210					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.C210C(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCAAGCTCTGCCTCATGTGGC	0.637										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(628-630)TGC>TGT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						83.0	70.0	75.0					17																	21319284		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319284C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.630C>T	17.37:g.21319284C>T		Prostate(3;0.18)					p.C210C	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1335	+			210			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.630C>T	CCDS11219.1																																																																																				PASS	0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		45	84	45	84	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29664885	29664885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:29664885G>T	ENST00000358273.4	+	44	7074	c.6691G>T	c.(6691-6693)Gaa>Taa	p.E2231*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E2210*|NF1_ENST00000417592.2_Missense_Mutation_p.R16I|NF1_ENST00000444181.2_Missense_Mutation_p.R16I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2231					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2231*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAGTGGACAGAACTAGCTCA	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM000814	NF1	M		c.(6691-6693)GAA>TAA		neurofibromin isoform 1							65.0	65.0	65.0					17																	29664885		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29664885G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6691G>T	17.37:g.29664885G>T	ENSP00000351015:p.Glu2231*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.E2210*|NF1_uc010cso.2_Nonsense_Mutation_p.E419*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.E2231*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	44	7024	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2231					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6691G>T	CCDS42292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.579185|16.579185	0.99867|0.99867	.|.	.|.	ENSG00000196712|ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735|ENST00000444181;ENST00000417592	.|T	.|0.53640	.|0.61	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.049686|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69824	.|0.3154	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999986|0.999986	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71130	.|-0.4682	.|6	0.19590|0.66056	T|D	0.45|0.02	.|.	20.2982|20.2982	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2231;2210;1876|16	.|ENSP00000396481:R16I	ENSP00000348498:E2210X|ENSP00000398991:R16I	E|R	+|+	1|2	0|0	NF1|NF1	26689011|26689011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.132000|9.132000	0.94455|0.94455	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|AGA		PASS	0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		38	15	38	15	---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30315405	30315405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:30315405G>T	ENST00000322652.5	+	10	1319	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.E341*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	364					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E364*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTGGACAGGAGAGACCAATGA	0.433			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - Nonsense(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(1090-1092)GAG>TAG		joined to JAZF1							94.0	94.0	94.0					17																	30315405		2203	4300	6503	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30315405G>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1090G>T	17.37:g.30315405G>T	ENSP00000316578:p.Glu364*					SUZ12_uc002hgt.2_Nonsense_Mutation_p.E341*	p.E364*	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			10	1312	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	364					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.1090G>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	39	7.774612	0.98483	.	.	ENSG00000178691	ENST00000322652	.	.	.	5.67	5.67	0.87782	.	0.044090	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.323	19.7638	0.96333	0.0:0.0:1.0:0.0	.	.	.	.	X	364	.	ENSP00000316578:E364X	E	+	1	0	SUZ12	27339518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.822000	0.99363	2.673000	0.90976	0.650000	0.86243	GAG		PASS	0.433	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		158	49	158	49	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72860310	72860310	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:72860310C>A	ENST00000293195.5	-	9	1040	c.962G>T	c.(961-963)cGg>cTg	p.R321L	FDXR_ENST00000582944.1_Missense_Mutation_p.R313L|FDXR_ENST00000420580.2_Missense_Mutation_p.R281L|FDXR_ENST00000581530.1_Missense_Mutation_p.R327L|FDXR_ENST00000583917.1_Missense_Mutation_p.R293L|FDXR_ENST00000413947.2_Missense_Mutation_p.R352L|FDXR_ENST00000455107.2_Missense_Mutation_p.R277L|FDXR_ENST00000442102.2_Missense_Mutation_p.R364L|FDXR_ENST00000544854.1_Missense_Mutation_p.R269L|FDXR_ENST00000581969.1_5'Flank|GRIN2C_ENST00000578159.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	321					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.R327L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TGCTGCCCGCCGCCCATCTGG	0.672																																						uc002jly.2																			2	Substitution - Missense(2)		lung(2)		0						c.(961-963)CGG>CTG		ferredoxin reductase isoform 1 precursor							22.0	27.0	25.0					17																	72860310		2200	4291	6491	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860310C>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.962G>T	17.37:g.72860310C>A	ENSP00000293195:p.Arg321Leu					FDXR_uc010wri.1_Missense_Mutation_p.R269L|FDXR_uc010wrj.1_Missense_Mutation_p.R319L|FDXR_uc002jlw.2_Missense_Mutation_p.R78L|FDXR_uc002jlx.2_Missense_Mutation_p.R327L|FDXR_uc002jmc.2_Missense_Mutation_p.R293L|FDXR_uc010wrk.1_Missense_Mutation_p.R352L|FDXR_uc010wrl.1_Missense_Mutation_p.R364L|FDXR_uc002jma.2_Missense_Mutation_p.R322L|FDXR_uc010wrm.1_Missense_Mutation_p.R281L|FDXR_uc002jlz.2_Missense_Mutation_p.R313L|FDXR_uc002jmb.2_RNA	p.R321L	NM_024417	NP_077728	P22570	ADRO_HUMAN			9	1049	-	all_lung(278;0.172)|Lung NSC(278;0.207)		321					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.962G>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379450	0.24944	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T;T	0.35605	2.0;2.82;1.3;2.82;2.82;2.82	4.58	-4.04	0.04010	.	1.314680	0.04936	N	0.457856	T	0.26846	0.0657	L	0.51422	1.61	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B	0.23185	0.05;0.081;0.011;0.011;0.003;0.004;0.006;0.011;0.006;0.01	B;B;B;B;B;B;B;B;B;B	0.26310	0.014;0.068;0.005;0.003;0.001;0.005;0.003;0.002;0.003;0.005	T	0.25257	-1.0137	10	0.08837	T	0.75	-4.5226	5.6214	0.17459	0.196:0.2832:0.0:0.5208	.	281;364;352;319;269;352;321;313;321;327	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	L	281;269;327;277;364;352	ENSP00000414172:R281L;ENSP00000445432:R269L;ENSP00000293195:R327L;ENSP00000390875:R277L;ENSP00000416515:R364L;ENSP00000408595:R352L	ENSP00000293195:R327L	R	-	2	0	FDXR	70371905	0.000000	0.05858	0.125000	0.21846	0.849000	0.48306	-1.071000	0.03437	-0.670000	0.05282	0.561000	0.74099	CGG		PASS	0.672	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		74	33	74	33	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76993183	76993183	+	Silent	SNP	A	A	G	rs368203123		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:76993183A>G	ENST00000302345.2	-	2	1016	c.522T>C	c.(520-522)aaT>aaC	p.N174N	CANT1_ENST00000392446.5_Silent_p.N174N|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.N174N	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	174					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)	p.N174N(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGAGTTTCCCATTGAAAACAA	0.602			T	ETV4	prostate																																	uc002jwn.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate		1	Substitution - coding silent(1)		lung(1)		0						c.(520-522)AAT>AAC		calcium activated nucleotidase 1		A	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	111.0	109.0		522,522,522	-6.8	0.8	17		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,	174/402,174/402,174/402	76993183	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993183A>G	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.522T>C	17.37:g.76993183A>G						CANT1_uc002jwk.2_Silent_p.N174N|CANT1_uc002jwj.2_Silent_p.N174N|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	p.N174N	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		4	961	-			174			Lumenal (Potential).		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.522T>C	CCDS11760.1																																																																																				PASS	0.602	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		461	153	461	153	---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580811	580811	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:580811G>A	ENST00000327228.3	+	1	445	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	135	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.E135K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGAGCTGGGGGAGAACCTCAC	0.537																																						uc002kko.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(403-405)GAG>AAG		centrin 1							93.0	93.0	93.0					18																	580811		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580811G>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.403G>A	18.37:g.580811G>A	ENSP00000319052:p.Glu135Lys						p.E135K	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	445	+			135			EF-hand 3.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.403G>A	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753274	0.69648	.	.	ENSG00000177143	ENST00000327228	T	0.77489	-1.1	5.2	4.33	0.51752	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.76938	2.355	0.80722	D	1	D	0.63880	0.993	D	0.66979	0.948	D	0.87815	0.2634	10	0.87932	D	0	.	11.9107	0.52737	0.0842:0.0:0.9158:0.0	.	135	Q12798	CETN1_HUMAN	K	135	ENSP00000319052:E135K	ENSP00000319052:E135K	E	+	1	0	CETN1	570811	1.000000	0.71417	0.986000	0.45419	0.115000	0.19883	9.629000	0.98417	1.581000	0.49865	-0.140000	0.14226	GAG		PASS	0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		45	146	45	146	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5395670	5395670	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:5395670T>A	ENST00000341928.2	-	20	3350	c.3010A>T	c.(3010-3012)Atg>Ttg	p.M1004L	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.M309L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.M782L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.M835L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.M782L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.M1004L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.M301L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1004	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.M1004L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTGCACTCATCAGCACGCCT	0.522																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3010-3012)ATG>TTG		erythrocyte membrane protein band 4.1-like 3							333.0	255.0	281.0					18																	5395670		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395670T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3010A>T	18.37:g.5395670T>A	ENSP00000343158:p.Met1004Leu					EPB41L3_uc010wzh.1_Missense_Mutation_p.M835L|EPB41L3_uc002kmu.1_Missense_Mutation_p.M782L|EPB41L3_uc010dkq.1_Missense_Mutation_p.M673L|EPB41L3_uc002kms.1_Missense_Mutation_p.M239L|EPB41L3_uc010wze.1_Missense_Mutation_p.M309L|EPB41L3_uc010wzf.1_Missense_Mutation_p.M301L|EPB41L3_uc010wzg.1_Missense_Mutation_p.M276L|EPB41L3_uc010dkr.2_Missense_Mutation_p.M396L	p.M1004L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			20	3096	-			1004			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3010A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	7.690	0.690891	0.15039	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.95	5.95	0.96441	Band 4.1, C-terminal (1);	0.037526	0.85682	D	0.000000	T	0.65719	0.2718	N	0.02202	-0.64	0.51233	D	0.999916	P;P;B;B;B;B;B;B	0.47962	0.531;0.903;0.067;0.081;0.015;0.014;0.016;0.015	P;D;B;B;B;B;B;B	0.66084	0.721;0.941;0.074;0.023;0.013;0.007;0.042;0.048	T	0.65010	-0.6272	10	0.02654	T	1	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	835;301;309;396;673;782;1004;239	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	L	1004;673;835;673;301;309;1004;782	ENSP00000343158:M1004L;ENSP00000441174:M835L;ENSP00000392195:M301L;ENSP00000442233:M309L;ENSP00000341138:M1004L;ENSP00000382981:M782L	ENSP00000343158:M1004L	M	-	1	0	EPB41L3	5385670	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.241000	0.58707	2.279000	0.76181	0.533000	0.62120	ATG		PASS	0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		124	279	124	279	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5434020	5434020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:5434020C>A	ENST00000341928.2	-	7	1046	c.706G>T	c.(706-708)Gag>Tag	p.E236*	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E236*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E236*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E236*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E236*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	236	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E236*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTCCGAGCTCTGACTGGACA	0.517																																						uc002kmt.1																			1	Substitution - Nonsense(1)	p.E236V(1)	lung(1)	ovary(5)	5						c.(706-708)GAG>TAG		erythrocyte membrane protein band 4.1-like 3							158.0	142.0	147.0					18																	5434020		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434020C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.706G>T	18.37:g.5434020C>A	ENSP00000343158:p.Glu236*					EPB41L3_uc010wzh.1_Nonsense_Mutation_p.E236*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.E236*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.E127*|EPB41L3_uc010dks.1_Nonsense_Mutation_p.E258*|EPB41L3_uc002kmv.1_Nonsense_Mutation_p.E127*	p.E236*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			7	792	-			236			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.706G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	41	9.136671	0.99077	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.16	6.16	0.99307	.	0.042122	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	236;127;236;127;236;236	.	ENSP00000343158:E236X	E	-	1	0	EPB41L3	5424020	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		129	182	129	182	---	---	---	---
CIDEA	1149	broad.mit.edu	37	18	12274250	12274250	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:12274250C>T	ENST00000320477.9	+	4	554	c.489C>T	c.(487-489)tgC>tgT	p.C163C	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	163					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.C197C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACATCCGGTGCACGGGACTCA	0.597																																						uc002kqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(487-489)TGC>TGT		cell death-inducing DFFA-like effector a isoform							108.0	90.0	96.0					18																	12274250		2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274250C>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.489C>T	18.37:g.12274250C>T						CIDEA_uc002kqu.3_Silent_p.C197C|CIDEA_uc010dlc.2_RNA	p.C163C	NM_001279	NP_001270	O60543	CIDEA_HUMAN			4	554	+			163					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.489C>T	CCDS11856.1																																																																																				PASS	0.597	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		81	110	81	110	---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33779713	33779713	+	Missense_Mutation	SNP	G	G	T	rs539922076		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:33779713G>T	ENST00000261326.5	+	4	388	c.367G>T	c.(367-369)Gct>Tct	p.A123S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.A123S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGCACGGCTGCTCTCAAACT	0.607																																						uc002kzq.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)GCT>TCT		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						63.0	59.0	61.0					18																	33779713		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33779713G>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.367G>T	18.37:g.33779713G>T	ENSP00000261326:p.Ala123Ser						p.A123S	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			4	390	+			123						Missense_Mutation	SNP	ENST00000261326.5	37	c.367G>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295078	0.81025	.	.	ENSG00000075643	ENST00000261326	T	0.38722	1.12	5.38	4.5	0.54988	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.62209	1.925	0.41853	D	0.990181	P	0.50710	0.938	P	0.61397	0.888	T	0.52793	-0.8528	10	0.17369	T	0.5	-16.9376	14.2123	0.65773	0.0:0.1508:0.8492:0.0	.	123	Q96EN8	MOCOS_HUMAN	S	123	ENSP00000261326:A123S	ENSP00000261326:A123S	A	+	1	0	MOCOS	32033711	1.000000	0.71417	0.975000	0.42487	0.921000	0.55340	7.827000	0.86722	1.403000	0.46800	0.467000	0.42956	GCT		PASS	0.607	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			57	73	57	73	---	---	---	---
KATNAL2	83473	broad.mit.edu	37	18	44586020	44586020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:44586020C>T	ENST00000245121.5	+	5	522	c.328C>T	c.(328-330)Cga>Tga	p.R110*	KATNAL2_ENST00000356157.7_Nonsense_Mutation_p.R182*|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.R110*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGCCCACCCACGAAGAGTAAG	0.383																																						uc002lco.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(328-330)CGA>TGA		katanin p60 subunit A-like 2							112.0	109.0	110.0					18																	44586020		2203	4300	6503	SO:0001587	stop_gained	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44586020C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.328C>T	18.37:g.44586020C>T	ENSP00000245121:p.Arg110*					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Nonsense_Mutation_p.R70*	p.R110*	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			5	522	+			182						Nonsense_Mutation	SNP	ENST00000245121.5	37	c.328C>T	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034127	0.75617	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	.	.	.	5.69	4.75	0.60458	.	0.174631	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-1.3842	10.2038	0.43101	0.2452:0.7547:0.0:0.0	.	.	.	.	X	182;110	.	ENSP00000245121:R110X	R	+	1	2	KATNAL2	42840018	0.001000	0.12720	0.947000	0.38551	0.097000	0.18754	0.263000	0.18478	2.677000	0.91161	0.655000	0.94253	CGA		PASS	0.383	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303		76	148	76	148	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47800013	47800013	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:47800013A>C	ENST00000591416.1	-	12	1798	c.1367T>G	c.(1366-1368)cTt>cGt	p.L456R	MBD1_ENST00000585595.1_Missense_Mutation_p.L481R|MBD1_ENST00000269471.5_Missense_Mutation_p.L433R|MBD1_ENST00000353909.3_Missense_Mutation_p.L407R|MBD1_ENST00000347968.3_Missense_Mutation_p.L400R|MBD1_ENST00000382948.5_Missense_Mutation_p.L456R|MBD1_ENST00000590208.1_Missense_Mutation_p.L456R|MBD1_ENST00000339998.6_Missense_Mutation_p.L456R|MBD1_ENST00000457839.2_Missense_Mutation_p.L481R|MBD1_ENST00000398488.1_Missense_Mutation_p.L400R|MBD1_ENST00000587605.1_Missense_Mutation_p.L400R|MBD1_ENST00000269468.5_Missense_Mutation_p.L456R|MBD1_ENST00000591535.1_Missense_Mutation_p.L433R|MBD1_ENST00000398493.1_Missense_Mutation_p.L400R|MBD1_ENST00000585672.1_Missense_Mutation_p.L406R|MBD1_ENST00000398495.2_Missense_Mutation_p.L425R|MBD1_ENST00000588937.1_Missense_Mutation_p.L433R|MBD1_ENST00000436910.1_Missense_Mutation_p.L433R|MBD1_ENST00000424334.2_Missense_Mutation_p.L507R|MBD1_ENST00000349085.2_Missense_Mutation_p.L400R			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	456					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L456R(3)|p.L481R(1)|p.L433R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAAAACACAAGGTCAGTGCC	0.627																																						uc010dow.1																			5	Substitution - Missense(5)		lung(4)|large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(1366-1368)CTT>CGT		methyl-CpG binding domain protein 1 isoform 1							60.0	55.0	57.0					18																	47800013		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800013A>C	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1367T>G	18.37:g.47800013A>C	ENSP00000467017:p.Leu456Arg					MBD1_uc002lef.2_Missense_Mutation_p.L207R|MBD1_uc002leg.2_Missense_Mutation_p.L406R|MBD1_uc010xdi.1_Missense_Mutation_p.L507R|MBD1_uc002leh.3_Missense_Mutation_p.L400R|MBD1_uc002len.2_Missense_Mutation_p.L456R|MBD1_uc002lei.3_Missense_Mutation_p.L456R|MBD1_uc002lej.3_Missense_Mutation_p.L400R|MBD1_uc002lek.3_Missense_Mutation_p.L407R|MBD1_uc002lel.3_Missense_Mutation_p.L433R|MBD1_uc002lem.3_Missense_Mutation_p.L456R|MBD1_uc010xdj.1_Missense_Mutation_p.L400R|MBD1_uc010xdk.1_Missense_Mutation_p.L481R|MBD1_uc010dox.1_Missense_Mutation_p.L433R|MBD1_uc002leo.2_Missense_Mutation_p.L456R	p.L456R	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			12	1804	-			456					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1367T>G	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234265	0.58886	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.97378	-4.1;-4.11;-4.36;-4.1;-4.07;-4.03;-4.04;-4.1;-4.05;-4.08;-4.07;-4.36	4.44	4.44	0.53790	.	0.373697	0.23237	N	0.050394	D	0.96482	0.8852	L	0.27053	0.805	0.27797	N	0.942617	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.997;0.999;1.0;0.998;0.999;0.997;0.998;0.992;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.949;0.996;0.965;0.945;0.977;0.977;0.961;0.996;0.945;0.961;0.914;0.961	D	0.91530	0.5241	10	0.66056	D	0.02	-10.2249	10.3809	0.44110	1.0:0.0:0.0:0.0	.	400;507;433;456;456;433;407;400;456;400;481;400	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	R	456;407;400;456;400;433;433;507;456;456;481;400;400	ENSP00000372407:L456R;ENSP00000269469:L407R;ENSP00000342531:L400R;ENSP00000269468:L456R;ENSP00000285102:L400R;ENSP00000409561:L433R;ENSP00000269471:L433R;ENSP00000408846:L507R;ENSP00000339546:L456R;ENSP00000405268:L481R;ENSP00000381506:L400R;ENSP00000381502:L400R	ENSP00000269468:L456R	L	-	2	0	MBD1	46054011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.758000	0.55220	2.223000	0.72356	0.454000	0.30748	CTT		PASS	0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		68	108	68	108	---	---	---	---
MEX3C	51320	broad.mit.edu	37	18	48703429	48703429	+	5'UTR	SNP	C	C	A	rs371794588		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:48703429C>A	ENST00000591040.1	-	0	560							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A229A(1)|p.A424A(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AGGAGAGCCACGCAGAGCCAA	0.448																																						uc002lfc.3																			2	Substitution - coding silent(2)	p.A424D(1)	lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1270-1272)GCG>GCT		ring finger and KH domain containing 2							93.0	88.0	90.0					18																	48703429		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48703429C>A	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-239G>T	18.37:g.48703429C>A							p.A424A	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	1272	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	424					A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	37	c.1272G>T																																																																																					PASS	0.448	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		23	75	23	75	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67855446	67855446	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:67855446C>T	ENST00000255674.6	-	10	1489	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	RTTN_ENST00000437017.1_Silent_p.V401V|RTTN_ENST00000454359.1_Silent_p.V401V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	401					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.V401V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTCTTATTATCACTTGTCTGC	0.328																																						uc002lkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(1201-1203)GTG>GTA		rotatin							81.0	74.0	76.0					18																	67855446		1819	4076	5895	SO:0001819	synonymous_variant	25914						binding	g.chr18:67855446C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1203G>A	18.37:g.67855446C>T						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.V401V	p.V401V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			10	1271	-		Esophageal squamous(42;0.129)	401					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.1203G>A	CCDS42443.1																																																																																				PASS	0.328	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		16	23	16	23	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752199	76752199	+	Nonsense_Mutation	SNP	C	C	T	rs371427282		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:76752199C>T	ENST00000537592.2	+	2	208	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q70*|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	70					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q70*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGGAGCACCAGCGGAGCTG	0.721																																						uc002lmt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(208-210)CAG>TAG		sal-like 3		C	stop/GLN	0,4398		0,0,2199	29.0	32.0	31.0		208	2.2	1.0	18		31	1,8595	1.2+/-3.3	0,1,4297	no	stop-gained	SALL3	NM_171999.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		70/1301	76752199	1,12993	2199	4298	6497	SO:0001587	stop_gained	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752199C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.208C>T	18.37:g.76752199C>T	ENSP00000441823:p.Gln70*					SALL3_uc010dra.2_5'Flank	p.Q70*	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	208	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	70					Q9UGH1	Nonsense_Mutation	SNP	ENST00000537592.2	37	c.208C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415102	0.25552	0.0	1.16E-4	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	4.63	2.18	0.27775	.	0.211139	0.31381	N	0.007758	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7098	11.462	0.50217	0.6984:0.3016:0.0:0.0	.	.	.	.	X	70	.	ENSP00000299466:Q70X	Q	+	1	0	SALL3	74853187	1.000000	0.71417	0.982000	0.44146	0.040000	0.13550	3.327000	0.52045	0.244000	0.21351	-0.397000	0.06425	CAG		PASS	0.721	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		13	21	13	21	---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2807757	2807757	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:2807757G>A	ENST00000307741.6	+	8	1407	c.1204G>A	c.(1204-1206)Gcg>Acg	p.A402T	THOP1_ENST00000586677.1_Missense_Mutation_p.A281T|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	402					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.A402T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGAGGGACGCGGCCTCGGG	0.726																																						uc002lwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1204-1206)GCG>ACG		thimet oligopeptidase 1							20.0	20.0	20.0					19																	2807757		2196	4293	6489	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2807757G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1204G>A	19.37:g.2807757G>A	ENSP00000304467:p.Ala402Thr					THOP1_uc010xgz.1_Missense_Mutation_p.A281T|THOP1_uc002lwk.2_5'Flank	p.A402T	NM_003249	NP_003240	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1359	+			402					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1204G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	g	3.866	-0.028989	0.07589	.	.	ENSG00000172009	ENST00000307741	T	0.08193	3.12	5.24	-3.11	0.05299	Metallopeptidase, catalytic domain (1);	0.469168	0.24323	N	0.039522	T	0.04407	0.0121	L	0.31120	0.905	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31888	-0.9927	10	0.29301	T	0.29	-18.4358	4.4033	0.11397	0.2961:0.0:0.4552:0.2486	.	281;402	B4DU96;P52888	.;THOP1_HUMAN	T	402	ENSP00000304467:A402T	ENSP00000304467:A402T	A	+	1	0	THOP1	2758757	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	-0.660000	0.05317	-0.750000	0.04740	0.604000	0.83254	GCG		PASS	0.726	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			9	63	9	63	---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3641803	3641803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:3641803G>A	ENST00000335312.3	-	15	1775	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Q563*|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Q563*|PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Q563*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	563					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.Q563*(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCTCCTCCTGCGGCCTGCAG	0.637																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1																			1	Substitution - Nonsense(1)		lung(1)	stomach(2)|skin(2)	4						c.(1687-1689)CAG>TAG		phosphatidylinositol-4-phosphate 5-kinase, type							73.0	57.0	62.0					19																	3641803		2203	4300	6503	SO:0001587	stop_gained	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3641803G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1687C>T	19.37:g.3641803G>A	ENSP00000335333:p.Gln563*					PIP5K1C_uc010xhq.1_Nonsense_Mutation_p.Q563*|PIP5K1C_uc010xhr.1_Nonsense_Mutation_p.Q563*	p.Q563*	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	15	1744	-		Hepatocellular(1079;0.137)	563					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Nonsense_Mutation	SNP	ENST00000335312.3	37	c.1687C>T	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181094	0.78677	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.3	4.3	0.51218	.	0.227057	0.37669	N	0.002000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-17.7963	9.648	0.39879	0.0964:0.0:0.9036:0.0	.	.	.	.	X	563	.	ENSP00000335333:Q563X	Q	-	1	0	PIP5K1C	3592803	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	5.938000	0.70170	1.963000	0.57068	0.603000	0.83216	CAG		PASS	0.637	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		44	62	44	62	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15538134	15538134	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:15538134C>A	ENST00000389282.4	-	6	3524	c.3311G>T	c.(3310-3312)gGg>gTg	p.G1104V	WIZ_ENST00000599910.2_Missense_Mutation_p.G421V|WIZ_ENST00000545156.1_Missense_Mutation_p.G418V|WIZ_ENST00000599686.3_Missense_Mutation_p.G288V|WIZ_ENST00000263381.7_Missense_Mutation_p.G247V			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1104	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G418V(1)|p.G247V(1)|p.G1104V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGGGCTTGGCCCTGGTGGGTT	0.652																																						uc002nbc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1261-1263)GGG>GTG		widely-interspaced zinc finger motifs							25.0	29.0	28.0					19																	15538134		1999	4165	6164	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15538134C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3311G>T	19.37:g.15538134C>A	ENSP00000373933:p.Gly1104Val					WIZ_uc002nba.3_Missense_Mutation_p.G288V|WIZ_uc002nbb.3_Missense_Mutation_p.G247V	p.G421V	NM_021241	NP_067064	O95785	WIZ_HUMAN			4	1285	-			1104			Pro-rich.		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.1262G>T		.	.	.	.	.	.	.	.	.	.	C	16.20	3.054598	0.55218	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02606	4.23	5.67	4.61	0.57282	.	0.693185	0.14402	N	0.321849	T	0.02380	0.0073	N	0.24115	0.695	0.48632	D	0.999681	B;B;B	0.31274	0.063;0.317;0.105	B;B;B	0.27076	0.039;0.076;0.039	T	0.54801	-0.8239	10	0.51188	T	0.08	-29.6767	7.6902	0.28563	0.3102:0.5593:0.1304:0.0	.	1104;247;288	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	V	1104;247;288;418	ENSP00000373933:G1104V	ENSP00000263381:G247V	G	-	2	0	WIZ	15399134	0.012000	0.17670	0.997000	0.53966	0.911000	0.54048	0.604000	0.24164	2.666000	0.90696	0.561000	0.74099	GGG		PASS	0.652	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		62	90	62	90	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21133024	21133024	+	Silent	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:21133024T>C	ENST00000328178.8	+	4	1817	c.1704T>C	c.(1702-1704)tgT>tgC	p.C568C	ZNF85_ENST00000601023.1_Silent_p.C509C|ZNF85_ENST00000345030.6_Silent_p.C535C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	568					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C568C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTACAAATGTGAAGAATGTG	0.338																																						uc002npg.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1702-1704)TGT>TGC		zinc finger protein 85							24.0	26.0	26.0					19																	21133024		2198	4291	6489	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21133024T>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1704T>C	19.37:g.21133024T>C						ZNF85_uc010ecn.2_Silent_p.C503C|ZNF85_uc010eco.2_Silent_p.C516C|ZNF85_uc002npi.2_Silent_p.C509C	p.C568C	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	1831	+			568			C2H2-type 16.		B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.1704T>C	CCDS32977.1																																																																																				PASS	0.338	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		25	35	25	35	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240490	21240490	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:21240490G>T	ENST00000261560.5	+	5	1557	c.1376G>T	c.(1375-1377)tGt>tTt	p.C459F	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	459					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C459F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCTACAAATGTGAAGAATGT	0.393																																						uc002npj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1375-1377)TGT>TTT		zinc finger protein 430							45.0	48.0	47.0					19																	21240490		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240490G>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1376G>T	19.37:g.21240490G>T	ENSP00000261560:p.Cys459Phe					ZNF430_uc002npk.2_Missense_Mutation_p.C458F	p.C459F	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1486	+			459			C2H2-type 10.		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1376G>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439653	0.43326	.	.	ENSG00000118620	ENST00000261560	D	0.85088	-1.94	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93706	0.7989	H	0.96662	3.86	0.30753	N	0.744862	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.88482	0.3069	9	0.87932	D	0	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	458;459	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	F	459	ENSP00000261560:C459F	ENSP00000261560:C459F	C	+	2	0	ZNF430	21032330	1.000000	0.71417	0.908000	0.35775	0.899000	0.52679	4.966000	0.63715	0.453000	0.26858	0.456000	0.33151	TGT		PASS	0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		40	113	40	113	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939415	22939415	+	IGR	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:22939415T>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.E919V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E919V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCCACATTCTTCACATTTGTA	0.368																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2755-2757)GAA>GTA		zinc finger protein 99							35.0	48.0	44.0					19																	22939415		1975	4249	6224	SO:0001628	intergenic_variant	7652							g.chr19:22939415T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939415T>A							p.E919V	NM_001080409	NP_001073878					7	2756	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2756A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	11.07	1.530131	0.27387	.	.	ENSG00000213973	ENST00000397104	T	0.18810	2.19	1.26	-2.14	0.07123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.62955	0.909	T	0.13764	-1.0497	8	0.46703	T	0.11	.	3.3272	0.07071	0.0:0.2816:0.2138:0.5046	.	919	A8MXY4	ZNF99_HUMAN	V	919	ENSP00000380293:E919V	ENSP00000380293:E919V	E	-	2	0	ZNF99	22731255	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.776000	0.01781	-0.681000	0.05204	0.313000	0.20887	GAA		PASS	0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		34	5	34	5	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939499	22939499	+	IGR	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:22939499T>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.E891V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E891V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCCACATTCTTCACATTTGTA	0.363																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2671-2673)GAA>GTA		zinc finger protein 99							37.0	49.0	45.0					19																	22939499		1858	4198	6056	SO:0001628	intergenic_variant	7652							g.chr19:22939499T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939499T>A							p.E891V	NM_001080409	NP_001073878					7	2672	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2672A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	5.388	0.256845	0.10185	.	.	ENSG00000213973	ENST00000397104	T	0.18810	2.19	1.32	-2.64	0.06114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.15896	-1.0421	8	0.48119	T	0.1	.	3.8363	0.08896	0.0:0.1607:0.4336:0.4056	.	891	A8MXY4	ZNF99_HUMAN	V	891	ENSP00000380293:E891V	ENSP00000380293:E891V	E	-	2	0	ZNF99	22731339	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.610000	0.02064	-1.096000	0.03046	0.138000	0.15974	GAA		PASS	0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	5	8	5	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939797	22939797	+	IGR	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:22939797A>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.L845H	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L845H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGTTTCCTAAGGGCTGAGAA	0.348																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2533-2535)CTT>CAT		zinc finger protein 99							56.0	61.0	60.0					19																	22939797		2057	4212	6269	SO:0001628	intergenic_variant	7652							g.chr19:22939797A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939797A>T							p.L845H	NM_001080409	NP_001073878					6	2534	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2534T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	a	11.09	1.537703	0.27475	.	.	ENSG00000213973	ENST00000397104	T	0.54071	0.59	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76083	0.3938	H	0.94620	3.56	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62134	-0.6918	9	0.87932	D	0	.	7.2366	0.26074	1.0:0.0:0.0:0.0	.	845	A8MXY4	ZNF99_HUMAN	H	845	ENSP00000380293:L845H	ENSP00000380293:L845H	L	-	2	0	ZNF99	22731637	0.254000	0.23992	0.004000	0.12327	0.133000	0.20885	3.580000	0.53907	0.491000	0.27793	0.145000	0.16022	CTT		PASS	0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		45	57	45	57	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23836845	23836845	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:23836845G>A	ENST00000359788.4	-	4	1058	c.890C>T	c.(889-891)tCa>tTa	p.S297L	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	297					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S297L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGATTTGAGAACTGGTT	0.388																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(889-891)TCA>TTA		zinc finger protein 675							48.0	52.0	51.0					19																	23836845		2202	4297	6499	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836845G>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.890C>T	19.37:g.23836845G>A	ENSP00000352836:p.Ser297Leu						p.S297L	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	1072	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	297			C2H2-type 6.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.890C>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	1.037	-0.679983	0.03353	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.916	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	L	0.55213	1.73	0.09310	N	1	P	0.42296	0.775	B	0.38954	0.286	T	0.29119	-1.0022	9	0.62326	D	0.03	.	3.8751	0.09053	0.0:0.2422:0.517:0.2407	.	297	Q8TD23	ZN675_HUMAN	L	297	ENSP00000352836:S297L	ENSP00000352836:S297L	S	-	2	0	ZNF675	23628685	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-0.429000	0.06982	0.300000	0.22699	0.305000	0.20034	TCA		PASS	0.388	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		39	117	39	117	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36042008	36042008	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:36042008T>G	ENST00000262623.3	-	20	2919	c.2891A>C	c.(2890-2892)aAg>aCg	p.K964T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	964					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.K964T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CACCAGGATCTTATTCCTGGG	0.542																																						uc002oal.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2890-2892)AAG>ACG		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						49.0	39.0	42.0					19																	36042008		2203	4299	6502	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36042008T>G		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2891A>C	19.37:g.36042008T>G	ENSP00000262623:p.Lys964Thr					ATP4A_uc010eee.1_Missense_Mutation_p.K122T	p.K964T	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		20	2920	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		964			Helical; (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2891A>C	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886914	0.72410	.	.	ENSG00000105675	ENST00000262623	D	0.96334	-3.98	4.9	-3.81	0.04294	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.533456	0.16623	N	0.206401	D	0.96886	0.8983	M	0.87180	2.865	0.31368	N	0.680522	P	0.39964	0.697	P	0.52309	0.695	D	0.95713	0.8759	10	0.46703	T	0.11	.	11.9221	0.52797	0.0:0.2757:0.0:0.7243	.	964	P20648	ATP4A_HUMAN	T	964	ENSP00000262623:K964T	ENSP00000262623:K964T	K	-	2	0	ATP4A	40733848	0.012000	0.17670	0.965000	0.40720	0.986000	0.74619	-0.037000	0.12164	-0.484000	0.06763	0.402000	0.26972	AAG		PASS	0.542	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		14	25	14	25	---	---	---	---
ZNF566	84924	broad.mit.edu	37	19	36940084	36940084	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:36940084C>A	ENST00000434377.2	-	5	1133	c.1052G>T	c.(1051-1053)gGc>gTc	p.G351V	ZNF566_ENST00000454319.1_Missense_Mutation_p.G352V|ZNF566_ENST00000493391.1_Missense_Mutation_p.G247V|ZNF566_ENST00000424129.2_Missense_Mutation_p.G351V|ZNF566_ENST00000392170.2_Missense_Mutation_p.G352V	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G351V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AAGGTCTGAGCCAGAACGAAA	0.388																																						uc002oea.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)GGC>GTC		zinc finger protein 566 isoform 1							66.0	69.0	68.0					19																	36940084		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940084C>A	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1052G>T	19.37:g.36940084C>A	ENSP00000415520:p.Gly351Val					ZNF566_uc010xte.1_Missense_Mutation_p.G351V|ZNF566_uc010xtf.1_Missense_Mutation_p.G352V|ZNF566_uc002oeb.3_Missense_Mutation_p.G351V|ZNF566_uc002oec.3_Missense_Mutation_p.G247V|ZNF566_uc010xtg.1_Missense_Mutation_p.G247V	p.G351V	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	1134	-	Esophageal squamous(110;0.162)		351			C2H2-type 5.|C2H2-type 7.		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.1052G>T	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	5.709	0.315358	0.10789	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.72	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000549	T	0.05960	0.0155	N	0.05487	-0.04	0.41484	D	0.988189	P;P	0.48230	0.907;0.895	P;B	0.45998	0.5;0.335	T	0.53795	-0.8388	10	0.17369	T	0.5	.	14.8149	0.70028	0.0:1.0:0.0:0.0	.	352;351	B7ZL95;Q969W8	.;ZN566_HUMAN	V	352;351;352;351	ENSP00000394207:G352V;ENSP00000415520:G351V;ENSP00000376010:G352V;ENSP00000401259:G351V	ENSP00000376010:G352V	G	-	2	0	ZNF566	41631924	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.102000	0.10956	2.093000	0.63338	0.555000	0.69702	GGC		PASS	0.388	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		38	59	38	59	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39913469	39913469	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:39913469C>T	ENST00000409794.3	+	18	2625	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S533L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S563L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	592					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S592L(1)|p.S533L(1)|p.S550L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGGACTCTTCAGAAGAGGAG	0.602																																						uc010xuz.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(1774-1776)TCA>TTA		common-site lymphoma/leukemia guanine nucleotide							43.0	43.0	43.0					19																	39913469		2203	4300	6503	SO:0001583	missense	64857				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	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913469C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1775C>T	19.37:g.39913469C>T	ENSP00000386733:p.Ser592Leu					PLEKHG2_uc010xuy.1_Missense_Mutation_p.S533L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.S370L	p.S592L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2100	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		592					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1775C>T	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.805483|4.805483	0.90623|0.90623	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.75367	.|-0.77;-0.78;-0.93	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.35291	.|N	.|0.003302	.|T	.|0.79470	.|0.4451	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.981;0.998	.|D;D;D	.|0.80764	.|0.994;0.966;0.987	.|T	.|0.80464	.|-0.1371	.|10	.|0.54805	.|T	.|0.06	.|.	14.3812|14.3812	0.66911|0.66911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|563;592;533	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	X|L	460|592;563;533	.|ENSP00000386733:S592L;ENSP00000392906:S563L;ENSP00000408857:S533L	.|ENSP00000386733:S592L	Q|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605309|44605309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.182000|4.182000	0.58310|0.58310	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	CAG|TCA		PASS	0.602	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		46	97	46	97	---	---	---	---
PRR19	284338	broad.mit.edu	37	19	42813770	42813770	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:42813770C>G	ENST00000499536.2	+	1	845	c.34C>G	c.(34-36)Cag>Gag	p.Q12E	PRR19_ENST00000341747.3_Missense_Mutation_p.Q12E|PRR19_ENST00000598490.1_Missense_Mutation_p.Q12E			A6NJB7	PRR19_HUMAN	proline rich 19	12								p.Q12E(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CCAGCCTTTTCAGCAGCCTGA	0.572																																						uc002oti.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CAG>GAG		proline rich 19							70.0	78.0	75.0					19																	42813770		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42813770C>G	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.34C>G	19.37:g.42813770C>G	ENSP00000445247:p.Gln12Glu					PRR19_uc002oth.1_Missense_Mutation_p.Q12E|PRR19_uc002otj.2_Missense_Mutation_p.Q12E	p.Q12E	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN			2	412	+		Prostate(69;0.00682)	12					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.34C>G	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842509	0.51057	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.96	3.96	0.45880	.	0.000000	0.38326	N	0.001736	T	0.50188	0.1601	L	0.34521	1.04	0.29421	N	0.860521	D;D	0.61697	0.99;0.99	D;D	0.70935	0.971;0.971	T	0.45659	-0.9246	9	0.87932	D	0	0.9638	11.8197	0.52232	0.0:1.0:0.0:0.0	.	12;12	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	E	12	.	ENSP00000342709:Q12E	Q	+	1	0	PRR19	47505610	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	3.299000	0.51826	2.497000	0.84241	0.650000	0.86243	CAG		PASS	0.572	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		68	346	68	346	---	---	---	---
PNMAL1	55228	broad.mit.edu	37	19	46974186	46974186	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:46974186T>A	ENST00000313683.10	-	2	412	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	PNMAL1_ENST00000602246.1_Missense_Mutation_p.Q36L|PNMAL1_ENST00000438932.2_Missense_Mutation_p.Q36L	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	36								p.Q36L(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		aatttctgcctgcccacagtc	0.542																																						uc002peq.3																			2	Substitution - Missense(2)		lung(2)		0						c.(106-108)CAG>CTG		PNMA-like 1 isoform a							81.0	70.0	74.0					19																	46974186		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46974186T>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.107A>T	19.37:g.46974186T>A	ENSP00000318131:p.Gln36Leu					PNMAL1_uc002per.3_Missense_Mutation_p.Q36L	p.Q36L	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	413	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	36					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.107A>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375399	0.61735	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.10099	2.91;2.91	3.94	1.74	0.24563	.	0.611364	0.13614	N	0.374890	T	0.13286	0.0322	M	0.62723	1.935	0.18873	N	0.999986	P;P	0.51933	0.59;0.949	B;B	0.43301	0.266;0.415	T	0.12578	-1.0542	10	0.72032	D	0.01	-2.6222	8.3835	0.32486	0.0:0.0:0.4593:0.5407	.	36;36	Q86V59-2;Q86V59	.;PNML1_HUMAN	L	36	ENSP00000410273:Q36L;ENSP00000318131:Q36L	ENSP00000318131:Q36L	Q	-	2	0	PNMAL1	51666026	0.169000	0.23002	0.234000	0.24042	0.814000	0.46013	0.126000	0.15769	0.305000	0.22832	0.533000	0.62120	CAG		PASS	0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		62	131	62	131	---	---	---	---
ELSPBP1	64100	broad.mit.edu	37	19	48517489	48517489	+	Silent	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:48517489C>A	ENST00000339841.2	+	3	310	c.132C>A	c.(130-132)acC>acA	p.T44T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	44	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.T44T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCACTTGCACCCATATTCATA	0.498																																						uc002pht.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)ACC>ACA		epididymal sperm binding protein 1 precursor							247.0	209.0	222.0					19																	48517489		2203	4300	6503	SO:0001819	synonymous_variant	64100				single fertilization	extracellular region		g.chr19:48517489C>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.132C>A	19.37:g.48517489C>A							p.T44T	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	3	287	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	44			Fibronectin type-II 1.		Q96RT0|Q9H4C8	Silent	SNP	ENST00000339841.2	37	c.132C>A	CCDS12708.1																																																																																				PASS	0.498	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			155	213	155	213	---	---	---	---
KCNJ14	3770	broad.mit.edu	37	19	48967528	48967528	+	Missense_Mutation	SNP	G	G	A	rs374178623		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:48967528G>A	ENST00000391884.1	+	2	1281	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000596497.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.V269M			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	269					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.V269M(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	TATCTTCCTCGTGTCCCCCAT	0.597																																					NSCLC(148;170 3504 35216)	uc002pje.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)GTG>ATG		potassium inwardly-rectifying channel J14		G	MET/VAL,MET/VAL	0,4406		0,0,2203	133.0	94.0	107.0		805,805	5.0	1.0	19		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNJ14	NM_013348.2,NM_170720.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	269/437,269/437	48967528	1,13005	2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967528G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.805G>A	19.37:g.48967528G>A	ENSP00000375756:p.Val269Met					KCNJ14_uc002pjf.1_Missense_Mutation_p.V269M	p.V269M	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	3	1210	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	269			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000391884.1	37	c.805G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645090	0.87859	0.0	1.16E-4	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.96011	-3.88;-3.88	5.0	5.0	0.66597	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.98586	1.0652	10	0.87932	D	0	.	16.6142	0.84902	0.0:0.0:1.0:0.0	.	269	Q9UNX9	IRK14_HUMAN	M	269	ENSP00000341479:V269M;ENSP00000375756:V269M	ENSP00000341479:V269M	V	+	1	0	KCNJ14	53659340	1.000000	0.71417	0.968000	0.41197	0.947000	0.59692	9.813000	0.99286	2.722000	0.93159	0.655000	0.94253	GTG		PASS	0.597	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		53	76	53	76	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50099158	50099158	+	Silent	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:50099158G>A	ENST00000418929.2	+	4	1578	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.Q522Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCACTCCCAGGGGCTGCCCA	0.711																																						uc002poo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1564-1566)CAG>CAA		proline rich 12							11.0	13.0	13.0					19																	50099158		1770	3871	5641	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50099158G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1566G>A	19.37:g.50099158G>A							p.Q522Q	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1566	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.1566G>A	CCDS46143.1																																																																																				PASS	0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		19	23	19	23	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50248526	50248526	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:50248526G>C	ENST00000246801.3	-	7	1202	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	TSKS_ENST00000358830.3_Missense_Mutation_p.R174G	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	374					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.R374G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCCTGTTCGCGCTGTGCCCGC	0.701																																						uc002ppm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1120-1122)CGC>GGC		testis-specific kinase substrate							34.0	33.0	33.0					19																	50248526		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50248526G>C	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1120C>G	19.37:g.50248526G>C	ENSP00000246801:p.Arg374Gly						p.R374G	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	7	1131	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	374					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1120C>G	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321581	0.41096	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.34472	1.36;1.36	4.89	2.66	0.31614	.	0.000000	0.47852	D	0.000205	T	0.22975	0.0555	L	0.29908	0.895	0.27684	N	0.946354	P	0.35226	0.491	B	0.37731	0.257	T	0.09751	-1.0660	10	0.49607	T	0.09	-12.5152	2.8572	0.05575	0.1004:0.1659:0.5393:0.1944	.	374	Q9UJT2	TSKS_HUMAN	G	374;174	ENSP00000246801:R374G;ENSP00000351691:R174G	ENSP00000246801:R374G	R	-	1	0	TSKS	54940338	0.804000	0.28969	0.991000	0.47740	0.885000	0.51271	1.294000	0.33365	1.286000	0.44565	0.561000	0.74099	CGC		PASS	0.701	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		27	50	27	50	---	---	---	---
PNKP	11284	broad.mit.edu	37	19	50373310	50373310	+	5'Flank	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:50373310G>A	ENST00000322344.3	-	0	0				AKT1S1_ENST00000391831.1_Missense_Mutation_p.S212L|AKT1S1_ENST00000391833.1_Missense_Mutation_p.S212L|AKT1S1_ENST00000391832.3_Missense_Mutation_p.S212L|PNKP_ENST00000596014.1_5'Flank|AKT1S1_ENST00000391835.1_Missense_Mutation_p.S232L|AKT1S1_ENST00000391834.2_Missense_Mutation_p.S212L|AKT1S1_ENST00000344175.5_Missense_Mutation_p.S212L|PNKP_ENST00000600573.1_5'Flank|PNKP_ENST00000600910.1_5'Flank|PNKP_ENST00000595792.1_5'Flank	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase						dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.S212L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAGGTCGGGCGAAGAGGGCTG	0.741								Other BER factors																														uc002pql.3																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)TCG>TTG		AKT1 substrate 1 (proline-rich)							7.0	7.0	7.0					19																	50373310		2153	4192	6345	SO:0001631	upstream_gene_variant	84335				negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding	g.chr19:50373310G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60			19.37:g.50373310G>A	Exception_encountered					PNKP_uc002pqh.2_5'Flank|PNKP_uc002pqi.2_5'Flank|PNKP_uc002pqj.2_5'Flank|PNKP_uc010enm.2_5'Flank|PNKP_uc002pqk.2_5'Flank|AKT1S1_uc002pqn.3_Missense_Mutation_p.S212L|AKT1S1_uc002pqm.3_Missense_Mutation_p.S212L	p.S212L	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	5	1361	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	212					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.635C>T	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285982	0.59867	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.84;0.83	4.06	3.01	0.34805	.	0.292675	0.27437	N	0.019377	T	0.38268	0.1034	N	0.14661	0.345	0.37712	D	0.924607	D	0.67145	0.996	P	0.51266	0.664	T	0.45160	-0.9280	10	0.52906	T	0.07	.	11.1226	0.48300	0.0:0.0:0.8138:0.1862	.	212	Q96B36	AKTS1_HUMAN	L	212;212;212;212;232;212	ENSP00000375709:S212L;ENSP00000341698:S212L;ENSP00000375708:S212L;ENSP00000375710:S212L;ENSP00000375711:S232L;ENSP00000375707:S212L	ENSP00000341698:S212L	S	-	2	0	AKT1S1	55065122	1.000000	0.71417	0.995000	0.50966	0.158000	0.22134	6.319000	0.72871	1.054000	0.40438	0.561000	0.74099	TCG		PASS	0.741	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		5	14	5	14	---	---	---	---
KCNC3	3748	broad.mit.edu	37	19	50831691	50831691	+	Missense_Mutation	SNP	C	C	A	rs373416318	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:50831691C>A	ENST00000477616.1	-	1	943	c.649G>T	c.(649-651)Gca>Tca	p.A217S	KCNC3_ENST00000376959.2_Missense_Mutation_p.A217S|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	217					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A217S(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	TGGGCGCCTGCGGCGTTGGCG	0.766																																					Melanoma(91;1496 2324 50908)	uc002pru.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(649-651)GCA>TCA		Shaw-related voltage-gated potassium channel							3.0	4.0	4.0					19																	50831691		1512	3278	4790	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50831691C>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.649G>T	19.37:g.50831691C>A	ENSP00000434241:p.Ala217Ser					NR1H2_uc002prv.3_5'Flank	p.A217S	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	1	944	-		all_neural(266;0.057)|Ovarian(192;0.208)	217			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000477616.1	37	c.649G>T	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	c	0.105	-1.146290	0.01714	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.97906	-4.6;-4.6	2.03	0.731	0.18277	.	.	.	.	.	D	0.92854	0.7727	N	0.19112	0.55	0.09310	N	0.999998	P	0.51057	0.941	P	0.46026	0.501	D	0.88047	0.2785	9	0.10377	T	0.69	.	5.7946	0.18379	0.0:0.6592:0.3408:0.0	.	217	Q14003	KCNC3_HUMAN	S	217;217;31	ENSP00000366158:A217S;ENSP00000434241:A217S	ENSP00000366158:A217S	A	-	1	0	KCNC3	55523503	0.000000	0.05858	0.172000	0.22920	0.239000	0.25481	-0.077000	0.11394	1.176000	0.42840	0.154000	0.16183	GCA		PASS	0.766	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		5	9	5	9	---	---	---	---
IGLON5	402665	broad.mit.edu	37	19	51826948	51826948	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:51826948C>A	ENST00000270642.8	+	3	191	c.191C>A	c.(190-192)gCc>gAc	p.A64D		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	64	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.A64D(1)		large_intestine(5)|lung(6)|prostate(1)	12						ACCCGCGTGGCCTGGCTGAAC	0.642																																						uc002pwc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GCC>GAC		IgLON family member 5 precursor							27.0	32.0	30.0					19																	51826948		2120	4239	6359	SO:0001583	missense	402665					extracellular region		g.chr19:51826948C>A		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.191C>A	19.37:g.51826948C>A	ENSP00000270642:p.Ala64Asp						p.A64D	NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN			3	191	+			64			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000270642.8	37	c.191C>A	CCDS46158.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981512	0.93044	.	.	ENSG00000142549	ENST00000270642	T	0.65732	-0.17	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88529	0.3101	10	0.87932	D	0	-29.9011	15.5652	0.76287	0.0:1.0:0.0:0.0	.	64	A6NGN9	IGLO5_HUMAN	D	64	ENSP00000270642:A64D	ENSP00000270642:A64D	A	+	2	0	IGLON5	56518760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.563000	0.82314	2.275000	0.75901	0.591000	0.81541	GCC		PASS	0.642	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		28	65	28	65	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:51918657C>G	ENST00000339313.5	-	7	1224	c.1108G>C	c.(1108-1110)Gta>Cta	p.V370L	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322L|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312L|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370L|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222L|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287L|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312L|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370L|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V370L(1)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1108-1110)GTA>CTA		sialic acid binding Ig-like lectin 10 precursor							41.0	43.0	42.0					19																	51918657		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918657C>G	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1108G>C	19.37:g.51918657C>G	ENSP00000345243:p.Val370Leu					SIGLEC10_uc002pwp.2_Missense_Mutation_p.V312L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.V312L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.V370L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.V280L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.V322L|SIGLEC10_uc010eow.2_Missense_Mutation_p.V182L|SIGLEC10_uc002pws.1_Missense_Mutation_p.V206L	p.V370L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1724	-		all_neural(266;0.0199)	370			Ig-like C2-type 3.|Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1108G>C	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.963401	0.34659	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.31199	0.0789	M	0.68593	2.085	0.26432	N	0.975925	D;D;D;D;D;D;P;P	0.89917	0.995;0.996;1.0;0.998;1.0;1.0;0.917;0.945	D;D;D;D;D;D;P;P	0.91635	0.978;0.998;0.999;0.982;0.999;0.999;0.499;0.771	T	0.01961	-1.1239	10	0.52906	T	0.07	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	L	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370L;ENSP00000396742:V287L;ENSP00000395475:V222L;ENSP00000348646:V370L;ENSP00000408387:V312L;ENSP00000431444:V280L;ENSP00000389132:V312L;ENSP00000414324:V322L;ENSP00000345243:V370L	ENSP00000345243:V370L	V	-	1	0	SIGLEC10	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA		PASS	0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		52	135	52	135	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52004682	52004682	+	Silent	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:52004682C>T	ENST00000291707.3	-	1	361	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	102	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.K102K(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTACAATCCTTGTTCTGTG	0.493																																						uc002pwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(304-306)AAG>AAA		sialic acid binding immunoglobulin-like							170.0	150.0	157.0					19																	52004682		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004682C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.306G>A	19.37:g.52004682C>T						SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.K102K	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	362	-		all_neural(266;0.0199)	102			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.306G>A	CCDS12833.1																																																																																				PASS	0.493	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		7	561	7	561	---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53117505	53117505	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:53117505C>T	ENST00000597597.1	-	2	2566	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.G105S|ZNF83_ENST00000301096.3_Missense_Mutation_p.G105S|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Missense_Mutation_p.G105S|ZNF83_ENST00000541777.2_Missense_Mutation_p.G105S|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.G105S|ZNF83_ENST00000545872.1_Missense_Mutation_p.G105S			P51522	ZNF83_HUMAN	zinc finger protein 83	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G105S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AAATGTAAGCCTTGATGAAAG	0.328																																						uc002pzu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)GGC>AGC		zinc finger protein 83 isoform a							71.0	71.0	71.0					19																	53117505		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117505C>T	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.313G>A	19.37:g.53117505C>T	ENSP00000472619:p.Gly105Ser					ZNF83_uc002pzv.3_Missense_Mutation_p.G105S|ZNF83_uc010eps.2_Missense_Mutation_p.G105S|ZNF83_uc010ept.2_Missense_Mutation_p.G105S|ZNF83_uc010epu.2_Missense_Mutation_p.G105S|ZNF83_uc010epv.2_Missense_Mutation_p.G105S|ZNF83_uc010epw.2_Missense_Mutation_p.G105S|ZNF83_uc010epx.2_Missense_Mutation_p.G105S|ZNF83_uc010epy.2_Missense_Mutation_p.G105S|ZNF83_uc010epz.2_Missense_Mutation_p.G105S|ZNF83_uc010eqb.1_Missense_Mutation_p.G105S	p.G105S	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	1557	-			105			C2H2-type 1; degenerate.		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.313G>A	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	0.024	-1.392493	0.01185	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;2.6	1.87	-0.359	0.12571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.02865	-0.47	0.09310	N	1	P;B	0.42908	0.793;0.061	B;B	0.37780	0.258;0.017	T	0.14587	-1.0467	9	0.02654	T	1	.	6.1174	0.20134	0.0:0.5677:0.0:0.4323	.	105;105	P51522-2;P51522	.;ZNF83_HUMAN	S	105	ENSP00000445993:G105S;ENSP00000301096:G105S;ENSP00000445470:G105S;ENSP00000440713:G105S;ENSP00000439681:G105S;ENSP00000375666:G105S	ENSP00000301096:G105S	G	-	1	0	ZNF83	57809317	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.900000	0.04097	-0.035000	0.13691	-0.218000	0.12543	GGC		PASS	0.328	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		23	94	23	94	---	---	---	---
TTYH1	57348	broad.mit.edu	37	19	54932556	54932557	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:54932556_54932557CC>AT	ENST00000376530.3	+	3	514_515	c.411_412CC>AT	c.(409-414)gaCCac>gaATac	p.137_138DH>EY	TTYH1_ENST00000391739.3_Missense_Mutation_p.186_187DH>EY|TTYH1_ENST00000301194.4_Missense_Mutation_p.137_138DH>EY|TTYH1_ENST00000376531.3_Missense_Mutation_p.137_138DH>EY	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	137					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.H138Y(2)|p.D137E(2)|p.D137_H138>EY(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCACCATTGACCACCTGGTGAG	0.604																																						uc002qfq.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)		0						c.(409-411)GAC>GAA|c.(412-414)CAC>TAC		tweety 1 isoform 1																																				SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932556C>A|g.chr19:54932557C>T	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	Exception_encountered	19.37:g.54932556_54932557delinsAT	ENSP00000365713:p.D137_H138delinsEY					TTYH1_uc010yey.1_Missense_Mutation_p.D186E|TTYH1_uc002qfr.2_Missense_Mutation_p.D137E|TTYH1_uc002qft.2_Missense_Mutation_p.D137E|TTYH1_uc002qfu.1_Missense_Mutation_p.D52E|TTYH1_uc010yey.1_Missense_Mutation_p.H187Y|TTYH1_uc002qfr.2_Missense_Mutation_p.H138Y|TTYH1_uc002qft.2_Missense_Mutation_p.H138Y|TTYH1_uc002qfu.1_Missense_Mutation_p.H53Y	p.D137E|p.H138Y	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	503|504	+	Ovarian(34;0.19)		137|138			Extracellular (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.411C>A|c.412C>T	CCDS12893.1																																																																																				PASS	0.604	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			42	127|124	42	124	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539873	56539873	+	Silent	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527																																						uc002qmj.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2272-2274)CTA>CTG		NACHT, LRR and PYD containing protein 5							127.0	127.0	127.0					19																	56539873		2008	4186	6194	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539873A>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2274A>G	19.37:g.56539873A>G						NLRP5_uc002qmi.2_Silent_p.L739L	p.L758L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2274	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	758					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2274A>G	CCDS12938.1																																																																																				PASS	0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		261	429	261	429	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13698128	13698128	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr20:13698128C>T	ENST00000202816.1	-	13	2256	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	717	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E717K(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTACTGTCCTCGTCCTCATCC	0.373																																						uc002woj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2149-2151)GAG>AAG		ABT1-associated protein							178.0	155.0	163.0					20																	13698128		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13698128C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2149G>A	20.37:g.13698128C>T	ENSP00000202816:p.Glu717Lys						p.E717K	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			13	2257	-			717			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2149G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591437	0.86851	.	.	ENSG00000089048	ENST00000202816	T	0.25414	1.8	5.87	5.87	0.94306	.	0.276440	0.34200	N	0.004173	T	0.43656	0.1257	M	0.65975	2.015	0.58432	D	0.99999	D	0.69078	0.997	P	0.54238	0.746	T	0.04029	-1.0983	10	0.25106	T	0.35	-8.2957	20.193	0.98233	0.0:1.0:0.0:0.0	.	717	Q9H501	ESF1_HUMAN	K	717	ENSP00000202816:E717K	ENSP00000202816:E717K	E	-	1	0	ESF1	13646128	0.998000	0.40836	0.681000	0.30009	0.405000	0.30901	4.159000	0.58157	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.373	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		82	123	82	123	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870229	51870229	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr20:51870229G>A	ENST00000371497.5	+	2	1119	c.232G>A	c.(232-234)Gat>Aat	p.D78N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D75N|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D75N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	78					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D78N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTCCAATCAGGATGCCGAGAA	0.537																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(232-234)GAT>AAT		teashirt zinc finger homeobox 2							137.0	116.0	123.0					20																	51870229		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870229G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.232G>A	20.37:g.51870229G>A	ENSP00000360552:p.Asp78Asn						p.D78N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1188	+			78					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.232G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140224	0.77775	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.18657	2.21;2.2	5.7	5.7	0.88788	.	0.053320	0.85682	D	0.000000	T	0.37461	0.1004	M	0.65498	2.005	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.15780	-1.0425	10	0.87932	D	0	-14.287	19.8272	0.96622	0.0:0.0:1.0:0.0	.	78	Q9NRE2	TSH2_HUMAN	N	78;75	ENSP00000360552:D78N;ENSP00000333114:D75N	ENSP00000333114:D75N	D	+	1	0	TSHZ2	51303636	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	9.470000	0.97683	2.685000	0.91497	0.643000	0.83706	GAT		PASS	0.537	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		52	115	52	115	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870575	51870575	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr20:51870575G>A	ENST00000371497.5	+	2	1465	c.578G>A	c.(577-579)aGc>aAc	p.S193N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S190N|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S190N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	193					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S193N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCTGTTCAGCTCGGTGCAG	0.572																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(577-579)AGC>AAC		teashirt zinc finger homeobox 2							63.0	61.0	62.0					20																	51870575		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870575G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.578G>A	20.37:g.51870575G>A	ENSP00000360552:p.Ser193Asn						p.S193N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1534	+			193					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.578G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861158	0.91433	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.27402	1.67;1.67	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56456	-0.7976	10	0.87932	D	0	-13.2464	19.0899	0.93223	0.0:0.0:1.0:0.0	.	193	Q9NRE2	TSH2_HUMAN	N	193;190	ENSP00000360552:S193N;ENSP00000333114:S190N	ENSP00000333114:S190N	S	+	2	0	TSHZ2	51303982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	AGC		PASS	0.572	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		58	102	58	102	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38858871	38858871	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr21:38858871C>G	ENST00000398960.2	+	5	694	c.619C>G	c.(619-621)Ctt>Gtt	p.L207V	DYRK1A_ENST00000339659.4_Missense_Mutation_p.L198V|DYRK1A_ENST00000398956.2_Missense_Mutation_p.L207V|DYRK1A_ENST00000451934.1_Missense_Mutation_p.L207V|DYRK1A_ENST00000338785.3_Missense_Mutation_p.L207V|DYRK1A_ENST00000321219.8_Missense_Mutation_p.L207V|DYRK1A_ENST00000455387.2_5'Flank	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.L207V(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGCGACTTCTTGAGCTCAT	0.403																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(619-621)CTT>GTT		dual-specificity tyrosine-(Y)-phosphorylation							69.0	67.0	67.0					21																	38858871		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38858871C>G	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.619C>G	21.37:g.38858871C>G	ENSP00000381932:p.Leu207Val					DYRK1A_uc002ywh.1_Missense_Mutation_p.L169V|DYRK1A_uc002ywi.2_Missense_Mutation_p.L207V|DYRK1A_uc002ywj.2_Missense_Mutation_p.L198V|DYRK1A_uc002ywl.2_Missense_Mutation_p.L207V|DYRK1A_uc002ywm.2_Missense_Mutation_p.L207V|DYRK1A_uc011aei.1_5'Flank	p.L207V	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			5	694	+			207			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.619C>G	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224622	0.95173	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.99;0.983;0.998	T	0.63037	-0.6726	9	.	.	.	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	207;207;207;198;207	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	V	207;198;207;207;207;207	ENSP00000342690:L207V;ENSP00000340373:L198V;ENSP00000319032:L207V;ENSP00000416089:L207V;ENSP00000381932:L207V;ENSP00000381929:L207V	.	L	+	1	0	DYRK1A	37780741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.927000	0.63440	2.751000	0.94390	0.591000	0.81541	CTT		PASS	0.403	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		11	35	11	35	---	---	---	---
KRTAP10-8	386681	broad.mit.edu	37	21	46032670	46032670	+	Missense_Mutation	SNP	G	G	A	rs370087467		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr21:46032670G>A	ENST00000334662.2	+	1	675	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	218	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.R218Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						cctgtgtgccggcctgcctgc	0.682																																						uc002zfo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|breast(1)	2						c.(652-654)CGG>CAG		keratin associated protein 10-8		G	GLN/ARG,	0,4406		0,0,2203	91.0	100.0	97.0		653,	1.3	0.3	21		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	TSPEAR,KRTAP10-8	NM_198695.2,NM_144991.2	43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	218/260,	46032670	1,13005	2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032670G>A	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.653G>A	21.37:g.46032670G>A	ENSP00000335565:p.Arg218Gln					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.R218Q	NM_198695	NP_941968	P60410	KR108_HUMAN			1	675	+			218			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.653G>A	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	7.055	0.565259	0.13498	0.0	1.16E-4	ENSG00000187766	ENST00000334662	T	0.01397	4.94	3.43	1.3	0.21679	.	.	.	.	.	T	0.01800	0.0057	L	0.38175	1.15	0.09310	N	0.999993	D	0.58268	0.982	P	0.50192	0.634	T	0.47898	-0.9081	9	0.13470	T	0.59	.	5.6895	0.17821	0.4249:0.0:0.5751:0.0	.	218	P60410	KR108_HUMAN	Q	218	ENSP00000335565:R218Q	ENSP00000335565:R218Q	R	+	2	0	KRTAP10-8	44857098	0.000000	0.05858	0.278000	0.24718	0.012000	0.07955	-0.088000	0.11198	0.452000	0.26830	0.467000	0.42956	CGG		PASS	0.682	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		5	320	5	320	---	---	---	---
IGLC7	28834	broad.mit.edu	37	22	23264871	23264871	+	RNA	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:23264871G>A	ENST00000390331.2	+	0	106				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTCTACCCGGGAGCCGTGACA	0.597																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							71.0	77.0	75.0					22																	23264871		2202	4299	6501			96610							g.chr22:23264871G>A	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264871G>A														379		+									RNA	SNP	ENST00000390331.2	37	c.16692G>A																																																																																					PASS	0.597	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		29	65	29	65	---	---	---	---
PLA2G3	50487	broad.mit.edu	37	22	31533955	31533955	+	Silent	SNP	G	G	T	rs142651583		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:31533955G>T	ENST00000215885.3	-	4	1059	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	269	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.P269P(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCGAGCGAGGGGCACTGTGC	0.652																																						uc003aka.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(805-807)CCC>CCA		phospholipase A2, group III precursor							42.0	48.0	46.0					22																	31533955		2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533955G>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.807C>A	22.37:g.31533955G>T							p.P269P	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			4	936	-			269			Phospholipase A2-like.		O95768	Silent	SNP	ENST00000215885.3	37	c.807C>A	CCDS13889.1																																																																																				PASS	0.652	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		83	128	83	128	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31859726	31859726	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:31859726C>A	ENST00000397525.1	-	5	749	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D176Y|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D176Y|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	176	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D176Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCCGCAGGTCCTTATCGCTA	0.468																																						uc003akz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(526-528)GAC>TAC		eukaryotic translation initiation factor 4E							75.0	73.0	74.0					22																	31859726		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859726C>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.526G>T	22.37:g.31859726C>A	ENSP00000380659:p.Asp176Tyr					EIF4ENIF1_uc003ala.1_Missense_Mutation_p.D176Y|EIF4ENIF1_uc003alb.1_Intron	p.D176Y	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			5	690	-			176			Arg-rich.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.526G>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721514	0.89298	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	5.56	0.83823	.	0.349781	0.34223	N	0.004156	T	0.68146	0.2969	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.69921	-0.5014	9	0.72032	D	0.01	-10.7414	18.4674	0.90761	0.0:1.0:0.0:0.0	.	176	Q9NRA8	4ET_HUMAN	Y	176	.	ENSP00000328103:D176Y	D	-	1	0	EIF4ENIF1	30189726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.855000	0.62925	2.792000	0.96026	0.557000	0.71058	GAC		PASS	0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		81	116	81	116	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37325795	37325795	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:37325795C>A	ENST00000403662.3	+	6	886	c.664C>A	c.(664-666)Ctc>Atc	p.L222I	CSF2RB_ENST00000406230.1_Missense_Mutation_p.L222I|CSF2RB_ENST00000262825.5_Missense_Mutation_p.L222I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L163I			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	222	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.L222I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGTTCTCGGCTCTCAGGACG	0.667																																						uc003aqa.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(664-666)CTC>ATC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						28.0	31.0	30.0					22																	37325795		2203	4299	6502	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325795C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.664C>A	22.37:g.37325795C>A	ENSP00000384053:p.Leu222Ile					CSF2RB_uc003aqc.3_Missense_Mutation_p.L222I	p.L222I	NM_000395	NP_000386	P32927	IL3RB_HUMAN			6	881	+			222			Fibronectin type-III 1.|Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.664C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161658	0.21538	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.94	-1.63	0.08345	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.106560	0.06992	N	0.821783	T	0.67988	0.2952	L	0.56769	1.78	0.09310	N	1	P;P	0.48589	0.912;0.822	P;B	0.55345	0.774;0.354	T	0.56511	-0.7967	10	0.27785	T	0.31	-8.3173	3.8503	0.08953	0.2783:0.4033:0.0:0.3184	.	222;222	P32927-2;P32927	.;IL3RB_HUMAN	I	222;222;222;222;142;163	ENSP00000384053:L222I;ENSP00000262825:L222I;ENSP00000385271:L222I;ENSP00000393585:L142I;ENSP00000440003:L163I	ENSP00000262825:L222I	L	+	1	0	CSF2RB	35655741	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.340000	0.07821	-0.320000	0.08640	-0.302000	0.09304	CTC		PASS	0.667	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		40	64	40	64	---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37603375	37603375	+	Silent	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:37603375T>A	ENST00000328544.3	-	2	1001	c.468A>T	c.(466-468)acA>acT	p.T156T	SSTR3_ENST00000402501.1_Silent_p.T156T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	156					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T156T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCACCGGAGCTGTGCGCCAGC	0.672																																						uc003ara.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(466-468)ACA>ACT		somatostatin receptor 3							57.0	54.0	55.0					22																	37603375		2203	4298	6501	SO:0001819	synonymous_variant	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603375T>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.468A>T	22.37:g.37603375T>A						SSTR3_uc003arb.2_Silent_p.T156T	p.T156T	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	530	-			156			Cytoplasmic (Potential).		A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.468A>T	CCDS13944.1																																																																																				PASS	0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			94	132	94	132	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43600112	43600112	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr22:43600112G>A	ENST00000360835.4	-	22	2984	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	953					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.P953L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTAGTTCTGGGGATGCGCCAG	0.582																																						uc003bdt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(2857-2859)CCC>CTC		signal peptide, CUB domain, EGF-like 1							164.0	146.0	153.0					22																	43600112		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43600112G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2858C>T	22.37:g.43600112G>A	ENSP00000354080:p.Pro953Leu						p.P953L	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			22	2946	-		all_neural(38;0.0414)|Ovarian(80;0.07)	953					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2858C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838502	0.91117	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.92911	-3.13	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94325	0.7557	10	0.87932	D	0	.	16.5437	0.84408	0.0:0.0:1.0:0.0	.	953	Q8IWY4	SCUB1_HUMAN	L	953;583	ENSP00000354080:P953L	ENSP00000354080:P953L	P	-	2	0	SCUBE1	41930056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.514000	0.98013	2.204000	0.70986	0.591000	0.81541	CCC		PASS	0.582	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		103	195	103	195	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8501094	8501094	+	Splice_Site	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:8501094C>A	ENST00000262648.3	-	14	2134	c.1985G>T	c.(1984-1986)aGa>aTa	p.R662I	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	662					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R662I(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AAGATGAGATCCTAAAAAGTG	0.338																																						uc004csf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1984-1986)AGA>ATA		Kallmann syndrome 1 protein precursor							147.0	125.0	132.0					X																	8501094		2203	4300	6503	SO:0001630	splice_region_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8501094C>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1985-1G>T	X.37:g.8501094C>A							p.R662I	NM_000216	NP_000207	P23352	KALM_HUMAN			14	2135	-			662					B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1985G>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.331903	0.41297	.	.	ENSG00000011201	ENST00000262648	T	0.78126	-1.15	3.82	3.82	0.43975	Fibronectin, type III (1);	0.196748	0.39834	N	0.001260	T	0.72236	0.3435	L	0.32530	0.975	0.58432	D	0.999999	P	0.45902	0.868	P	0.46299	0.511	T	0.76506	-0.2934	10	0.87932	D	0	.	12.6356	0.56681	0.0:1.0:0.0:0.0	.	662	P23352	KALM_HUMAN	I	662	ENSP00000262648:R662I	ENSP00000262648:R662I	R	-	2	0	KAL1	8461094	1.000000	0.71417	0.058000	0.19502	0.090000	0.18270	4.441000	0.59981	1.667000	0.50832	0.600000	0.82982	AGA		PASS	0.338	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	Missense_Mutation	20	53	20	53	---	---	---	---
SUPT20HL1	100130302	broad.mit.edu	37	X	24381382	24381382	+	IGR	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:24381382C>G								AC004552.1 (14359 upstream) : PDK3 (101955 downstream)														p.P276A(1)									TCTTCTACGTCCAACGATGCA	0.458																																						uc011mjx.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(505-507)CCA>GCA		hypothetical protein LOC100130302							211.0	205.0	207.0					X																	24381382		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24381382C>G																													X.37:g.24381382C>G							p.P169A	NM_001136234	NP_001129706					1	505	+									Missense_Mutation	SNP		37	c.505C>G																																																																																				0	PASS	0.458									24	787	24	787	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973391	29973391	+	Silent	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:29973391G>T	ENST00000378993.1	+	11	2218	c.1545G>T	c.(1543-1545)ctG>ctT	p.L515L	IL1RAPL1_ENST00000302196.4_Silent_p.L515L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	515	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.L515L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCAGTGAACTGAGAGGAATTA	0.438																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1543-1545)CTG>CTT		interleukin 1 receptor accessory protein-like 1							68.0	65.0	66.0					X																	29973391		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973391G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1545G>T	X.37:g.29973391G>T							p.L515L	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2053	+			515			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1545G>T	CCDS14218.1																																																																																				PASS	0.438	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		7	171	7	171	---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30327185	30327185	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:30327185G>T	ENST00000378970.4	-	1	530	c.296C>A	c.(295-297)gCg>gAg	p.A99E	NR0B1_ENST00000453287.1_Missense_Mutation_p.A99E|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	99	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A99E(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	ACCCAGCGTCGCCTCGGGCGC	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(295-297)GCG>GAG		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						26.0	26.0	26.0					X																	30327185		2194	4285	6479	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327185G>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.296C>A	X.37:g.30327185G>T	ENSP00000368253:p.Ala99Glu		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.A99E	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	311	-			99			4 X 67 AA tandem repeats.|2.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.296C>A	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.921902	0.17982	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97731	-3.62;-4.51	4.29	1.41	0.22369	.	0.985733	0.08270	N	0.971639	D	0.96049	0.8713	M	0.66939	2.045	0.09310	N	1	B	0.28713	0.22	B	0.30572	0.117	D	0.89901	0.4044	10	0.51188	T	0.08	-11.4989	6.2875	0.21041	0.0:0.1788:0.4465:0.3746	.	99	P51843	NR0B1_HUMAN	E	99	ENSP00000368253:A99E;ENSP00000396403:A99E	ENSP00000368253:A99E	A	-	2	0	NR0B1	30237106	0.002000	0.14202	0.000000	0.03702	0.472000	0.32918	0.127000	0.15790	0.045000	0.15804	0.422000	0.28245	GCG		PASS	0.682	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		5	167	5	167	---	---	---	---
GK	2710	broad.mit.edu	37	X	30739016	30739016	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:30739016G>A	ENST00000378943.3	+	17	1566	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.A264T|GK_ENST00000378946.3_Missense_Mutation_p.A469T|GK_ENST00000378945.3_Missense_Mutation_p.A463T|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	469					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.A463T(1)		central_nervous_system(1)|large_intestine(3)	4						GGCTATGGCGGCAGGGGCTGC	0.542																																						uc004dch.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1405-1407)GCA>ACA		glycerol kinase isoform a							36.0	34.0	34.0					X																	30739016		2202	4300	6502	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30739016G>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1387G>A	X.37:g.30739016G>A	ENSP00000368226:p.Ala463Thr					GK_uc010ngj.2_Missense_Mutation_p.A463T|GK_uc004dci.3_Missense_Mutation_p.A463T|GK_uc011mjz.1_Missense_Mutation_p.A264T|GK_uc011mka.1_Missense_Mutation_p.A306T|GK_uc010ngk.2_Missense_Mutation_p.A258T	p.A469T	NM_203391	NP_976325	P32189	GLPK_HUMAN			18	1584	+			469					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.1405G>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171303	0.94807	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	5.49	5.49	0.81192	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.99679	1.0998	10	0.87932	D	0	.	18.6129	0.91293	0.0:0.0:1.0:0.0	.	306;469;463;463;469	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	T	469;463;469;463;264;306;58	ENSP00000368229:A469T;ENSP00000368226:A463T;ENSP00000368228:A463T;ENSP00000401720:A264T;ENSP00000368221:A58T	ENSP00000368221:A58T	A	+	1	0	GK	30648937	1.000000	0.71417	0.388000	0.26195	0.619000	0.37552	9.813000	0.99286	2.426000	0.82243	0.600000	0.82982	GCA		PASS	0.542	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		4	66	4	66	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32383289	32383289	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:32383289T>C	ENST00000357033.4	-	35	5079	c.4873A>G	c.(4873-4875)Aag>Gag	p.K1625E	DMD_ENST00000378677.2_Missense_Mutation_p.K1621E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1625	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K1621E(1)|p.K1625E(1)|p.K284E(1)|p.K1620E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGTGCACCTTCTGTTTCTCA	0.408																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4873-4875)AAG>GAG		dystrophin Dp427m isoform							136.0	109.0	118.0					X																	32383289		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32383289T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4873A>G	X.37:g.32383289T>C	ENSP00000354923:p.Lys1625Glu					DMD_uc004dcw.2_Missense_Mutation_p.K281E|DMD_uc004dcx.2_Missense_Mutation_p.K284E|DMD_uc004dcz.2_Missense_Mutation_p.K1502E|DMD_uc004dcy.1_Missense_Mutation_p.K1621E|DMD_uc004ddb.1_Missense_Mutation_p.K1617E|DMD_uc010ngo.1_Intron	p.K1625E	NM_004006	NP_003997	P11532	DMD_HUMAN			35	5117	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1625			Spectrin 11.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4873A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676495	0.67928	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000420596	T;T;T	0.48836	0.8;0.8;0.8	5.78	4.67	0.58626	.	0.215967	0.22262	U	0.062395	T	0.42359	0.1199	L	0.38175	1.15	0.80722	D	1	B;P;B;B;B	0.41710	0.167;0.76;0.201;0.201;0.201	B;P;B;B;B	0.45538	0.08;0.484;0.13;0.13;0.084	T	0.23084	-1.0198	10	0.33940	T	0.23	.	10.3197	0.43758	0.0:0.0:0.4702:0.5298	.	1617;1625;1621;284;281	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1617;284;281;1621;1625;1625;1502;41	ENSP00000367948:K1621E;ENSP00000354923:K1625E;ENSP00000399897:K41E	ENSP00000354923:K1625E	K	-	1	0	DMD	32293210	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	4.015000	0.57152	1.931000	0.55961	0.486000	0.48141	AAG		PASS	0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	118	5	118	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35993797	35993797	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:35993797C>A	ENST00000297866.5	+	15	2546	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	827								p.T827N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTCTTTCACCTTTACAGTG	0.383																																						uc004ddj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2479-2481)ACC>AAC		hypothetical protein LOC170063							102.0	88.0	93.0					X																	35993797		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993797C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2480C>A	X.37:g.35993797C>A	ENSP00000297866:p.Thr827Asn					CXorf22_uc010ngv.2_RNA	p.T827N	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			15	2539	+			827					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2480C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029382	0.19512	.	.	ENSG00000165164	ENST00000297866	T	0.14640	2.49	5.14	-0.802	0.10889	.	0.327756	0.31847	N	0.006966	T	0.19604	0.0471	M	0.76002	2.32	0.19300	N	0.999971	D	0.56521	0.976	P	0.55455	0.776	T	0.21075	-1.0256	10	0.15952	T	0.53	-2.1102	4.1972	0.10448	0.2243:0.4472:0.2457:0.0827	.	827	Q6ZTR5	CX022_HUMAN	N	827	ENSP00000297866:T827N	ENSP00000297866:T827N	T	+	2	0	CXorf22	35903718	0.089000	0.21612	0.066000	0.19879	0.008000	0.06430	0.190000	0.17057	-0.212000	0.10109	-0.224000	0.12420	ACC		PASS	0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		4	214	4	214	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38020265	38020265	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:38020265T>A	ENST00000378533.3	-	6	802	c.696A>T	c.(694-696)gaA>gaT	p.E232D	SRPX_ENST00000343800.6_Missense_Mutation_p.E219D|SRPX_ENST00000432886.2_Missense_Mutation_p.E173D|SRPX_ENST00000544439.1_Missense_Mutation_p.E212D|SRPX_ENST00000479015.1_5'Flank|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.E232D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	232	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.E232D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGTGGTCTCCTTCTGGAAAGT	0.423																																						uc004ddy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)GAA>GAT		sushi-repeat-containing protein, X-linked							102.0	91.0	95.0					X																	38020265		2202	4299	6501	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38020265T>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.696A>T	X.37:g.38020265T>A	ENSP00000367794:p.Glu232Asp					SRPX_uc004ddz.1_Missense_Mutation_p.E212D|SRPX_uc011mkh.1_Missense_Mutation_p.E173D|SRPX_uc011mki.1_Missense_Mutation_p.E232D	p.E232D	NM_006307	NP_006298	P78539	SRPX_HUMAN			6	782	-			232			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.696A>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.786632	0.70337	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.86	4.69	0.59074	Hyalin (2);	0.041955	0.85682	D	0.000000	T	0.42810	0.1219	M	0.62723	1.935	0.50813	D	0.999895	D;D;D;D	0.89917	1.0;0.999;0.996;0.999	D;D;D;D	0.91635	0.999;0.997;0.987;0.994	T	0.22208	-1.0223	10	0.26408	T	0.33	-24.4496	8.2319	0.31603	0.0:0.1544:0.0:0.8456	.	232;173;212;232	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	D	212;173;232;232;219	ENSP00000440758:E212D;ENSP00000411165:E173D;ENSP00000445034:E232D;ENSP00000367794:E232D;ENSP00000339211:E219D	ENSP00000339211:E219D	E	-	3	2	SRPX	37905209	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.211000	0.42825	0.828000	0.34709	0.483000	0.47432	GAA		PASS	0.423	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		10	237	10	237	---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52681327	52681327	+	Silent	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:52681327A>G	ENST00000298181.5	-	4	413	c.255T>C	c.(253-255)gaT>gaC	p.D85D		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.D85D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TACGGTCATTATCAAAATCAT	0.488																																						uc004dqx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(253-255)GAT>GAC		synovial sarcoma, X breakpoint 7							166.0	146.0	153.0					X																	52681327		2203	4300	6503	SO:0001819	synonymous_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681327A>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.255T>C	X.37:g.52681327A>G							p.D85D	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			4	414	-	Ovarian(276;0.236)		85						Silent	SNP	ENST00000298181.5	37	c.255T>C	CCDS14343.1																																																																																				PASS	0.488	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		184	105	184	105	---	---	---	---
XAGE5	170627	broad.mit.edu	37	X	52841664	52841664	+	Splice_Site	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:52841664T>C	ENST00000375501.1	+	1	72		c.e1+2		XAGE5_ENST00000375503.3_Splice_Site|XAGE5_ENST00000425386.1_Splice_Site|XAGE5_ENST00000351072.1_Splice_Site			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5									p.?(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						CCTATGCTTGTGAGTGACTTC	0.388																																						uc004drd.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+2		X antigen family, member 5							188.0	152.0	165.0					X																	52841664		2203	4300	6503	SO:0001630	splice_region_variant	170627							g.chrX:52841664T>C	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.72+2T>C	X.37:g.52841664T>C							p.L24_splice	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			2	137	+								Q5JS81	Splice_Site	SNP	ENST00000375501.1	37	c.72_splice	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	.	1.743	-0.491131	0.04322	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375503;ENST00000375501	.	.	.	0.809	0.809	0.18725	.	.	.	.	.	.	.	.	.	.	.	0.21220	N	0.999757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	XAGE5	52858389	0.447000	0.25673	0.011000	0.14972	0.006000	0.05464	1.188000	0.32102	0.566000	0.29273	0.381000	0.24937	.		PASS	0.388	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775	Intron	14	270	14	270	---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53439033	53439033	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:53439033G>A	ENST00000322213.4	-	6	1152	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	342					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.S342L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTTCTCCACTGACAGCATCTC	0.498																																						uc004dsg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1024-1026)TCA>TTA		structural maintenance of chromosomes 1A							122.0	82.0	96.0					X																	53439033		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439033G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1025C>T	X.37:g.53439033G>A	ENSP00000323421:p.Ser342Leu					SMC1A_uc011moe.1_Missense_Mutation_p.S320L|SMC1A_uc011mof.1_Intron	p.S342L	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	1094	-			342			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1025C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981905	0.53827	.	.	ENSG00000072501	ENST00000322213	T	0.77750	-1.12	4.73	3.86	0.44501	RecF/RecN/SMC (1);	0.071093	0.56097	D	0.000028	T	0.60170	0.2248	N	0.08118	0	0.80722	D	1	B;B	0.18968	0.004;0.032	B;B	0.24006	0.017;0.05	T	0.54323	-0.8311	10	0.38643	T	0.18	.	12.6896	0.56966	0.0:0.0:0.8336:0.1664	.	320;342	Q6MZR8;Q14683	.;SMC1A_HUMAN	L	342	ENSP00000323421:S342L	ENSP00000323421:S342L	S	-	2	0	SMC1A	53455758	0.997000	0.39634	0.885000	0.34714	0.998000	0.95712	5.374000	0.66167	0.905000	0.36596	0.600000	0.82982	TCA		PASS	0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		12	52	12	52	---	---	---	---
USP51	158880	broad.mit.edu	37	X	55513249	55513249	+	Silent	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:55513249T>C	ENST00000500968.3	-	2	2206	c.2124A>G	c.(2122-2124)ctA>ctG	p.L708L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	708					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L708L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGTCTTTCTCTAGACCCTGTT	0.413																																						uc004dun.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2122-2124)CTA>CTG		ubiquitin specific protease 51							64.0	54.0	57.0					X																	55513249		2203	4300	6503	SO:0001819	synonymous_variant	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513249T>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2124A>G	X.37:g.55513249T>C						USP51_uc011moo.1_Silent_p.L412L	p.L708L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	2203	-			708					Q8IWJ8	Silent	SNP	ENST00000500968.3	37	c.2124A>G	CCDS14370.1																																																																																				PASS	0.413	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		70	33	70	33	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389333	70389333	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:70389333A>G	ENST00000358741.3	+	8	2236	c.1933A>G	c.(1933-1935)Acc>Gcc	p.T645A	NLGN3_ENST00000374051.3_Missense_Mutation_p.T625A|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.T605A	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	645					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.T645A(1)|p.T625A(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTCCACCACCACCAAAGTGCC	0.582																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1873-1875)ACC>GCC		neuroligin 3							72.0	58.0	63.0					X																	70389333		2202	4298	6500	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389333A>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1933A>G	X.37:g.70389333A>G	ENSP00000351591:p.Thr645Ala					NLGN3_uc004dzc.2_Missense_Mutation_p.T508A|NLGN3_uc011mps.1_Missense_Mutation_p.T605A|NLGN3_uc004dze.2_Missense_Mutation_p.T443A	p.T625A	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2177	+	Renal(35;0.156)		645			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1873A>G	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666562	0.67814	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.66815	-0.22;-0.23;-0.23	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.71581	2.175	0.58432	D	0.999995	D;P;D	0.58268	0.97;0.947;0.982	P;P;P	0.59221	0.718;0.528;0.854	T	0.77122	-0.2704	10	0.39692	T	0.17	.	13.7006	0.62606	1.0:0.0:0.0:0.0	.	605;645;625	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	A	605;625;645	ENSP00000445298:T605A;ENSP00000363163:T625A;ENSP00000351591:T645A	ENSP00000351591:T645A	T	+	1	0	NLGN3	70306058	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.139000	0.94554	1.809000	0.52856	0.352000	0.21897	ACC		PASS	0.582	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		42	36	42	36	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433380	72433380	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:72433380G>C	ENST00000373517.3	-	1	1304	c.949C>G	c.(949-951)Ccc>Gcc	p.P317A	NAP1L2_ENST00000536638.1_Missense_Mutation_p.P175A	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	317					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P317A(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAGGGATGGGGATCATAATAT	0.378																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(949-951)CCC>GCC		nucleosome assembly protein 1-like 2							112.0	103.0	106.0					X																	72433380		2203	4299	6502	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433380G>C	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.949C>G	X.37:g.72433380G>C	ENSP00000362616:p.Pro317Ala					NAP1L2_uc011mqj.1_Missense_Mutation_p.P175A	p.P317A	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	1305	-	Renal(35;0.156)		317					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.949C>G	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	16.40	3.111462	0.56398	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.26518	1.73;1.73	3.12	3.12	0.35913	.	0.000000	0.85682	U	0.000000	T	0.56046	0.1959	M	0.91920	3.255	0.43187	D	0.995012	D	0.76494	0.999	D	0.83275	0.996	T	0.66232	-0.5975	10	0.87932	D	0	-4.297	11.356	0.49615	0.0:0.0:1.0:0.0	.	317	Q9ULW6	NP1L2_HUMAN	A	317;175	ENSP00000362616:P317A;ENSP00000441555:P175A	ENSP00000362616:P317A	P	-	1	0	NAP1L2	72350105	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.924000	0.70054	1.809000	0.52856	0.506000	0.49869	CCC		PASS	0.378	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		12	286	12	286	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73042994	73042994	+	lincRNA	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:73042994A>T	ENST00000604411.1	+	0	30955				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TAATAAAAGCAGAATGTTTAG	0.358																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							27.0	28.0	27.0					X																	73042994		873	1991	2864			9383							g.chrX:73042994A>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042994A>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.30955A>T																																																																																					PASS	0.358	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		11	2	11	2	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043403	73043403	+	lincRNA	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:73043403T>C	ENST00000604411.1	+	0	31364				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTGAGGCATTTATTTTTACTC	0.393																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							51.0	49.0	50.0					X																	73043403		876	1991	2867			9383							g.chrX:73043403T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043403T>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.31364T>C																																																																																					PASS	0.393	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		41	18	41	18	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76854945	76854945	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:76854945C>G	ENST00000373344.5	-	25	6105	c.5891G>C	c.(5890-5892)gGa>gCa	p.G1964A	ATRX_ENST00000395603.3_Missense_Mutation_p.G1926A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1964					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G1964A(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCACCACCTCCCCGAGATCT	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5890-5892)GGA>GCA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						352.0	330.0	337.0					X																	76854945		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76854945C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5891G>C	X.37:g.76854945C>G	ENSP00000362441:p.Gly1964Ala					ATRX_uc004ecq.3_Missense_Mutation_p.G1926A|ATRX_uc004eco.3_Missense_Mutation_p.G1749A	p.G1964A	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6123	-			1964					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5891G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206521	0.58343	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.91894	-2.92;-2.93	5.64	4.76	0.60689	.	0.000000	0.64402	U	0.000001	D	0.93943	0.8061	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.953;0.996	D	0.93244	0.6629	10	0.42905	T	0.14	-9.1733	14.9428	0.71006	0.1439:0.8561:0.0:0.0	.	1926;1964	P46100-4;P46100	.;ATRX_HUMAN	A	1964;1926	ENSP00000362441:G1964A;ENSP00000378967:G1926A	ENSP00000362441:G1964A	G	-	2	0	ATRX	76741601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	1.092000	0.41356	0.594000	0.82650	GGA		PASS	0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		20	372	20	372	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78427277	78427278	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:78427277_78427278CC>AA	ENST00000276077.1	+	1	809_810	c.773_774CC>AA	c.(772-774)tCC>tAA	p.S258*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S258Y(1)|p.S258S(1)|p.S258*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGTGAAGTCCAATGAAATTA	0.386										HNSCC(63;0.18)																												uc004edg.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	lung(1)|central_nervous_system(1)	2						c.(772-774)TCC>TAC|c.(772-774)TCC>TCA		putative purinergic receptor FKSG79																																				SO:0001587	stop_gained	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427277C>A|g.chrX:78427278C>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	Exception_encountered	X.37:g.78427277_78427278delinsAA	ENSP00000276077:p.Ser258*	HNSCC(63;0.18)					p.S258Y|p.S258S	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	809|810	+			258			Extracellular (Potential).		Q2M3F7	Missense_Mutation|Silent	SNP	ENST00000276077.1	37	c.773C>A|c.774C>A	CCDS14443.1																																																																																				PASS	0.386	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		6|7	116	6	116	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100505427	100505427	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:100505427T>C	ENST00000395209.3	+	15	2083	c.1556T>C	c.(1555-1557)gTg>gCg	p.V519A	DRP2_ENST00000402866.1_Missense_Mutation_p.V519A|DRP2_ENST00000541709.1_Missense_Mutation_p.V441A|DRP2_ENST00000538510.1_Missense_Mutation_p.V519A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	519					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V516A(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTCAGCCAAGTGGCCAACTCA	0.587																																						uc004egz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1555-1557)GTG>GCG		dystrophin related protein 2							84.0	80.0	81.0					X																	100505427		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100505427T>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1556T>C	X.37:g.100505427T>C	ENSP00000378635:p.Val519Ala					DRP2_uc011mrh.1_Missense_Mutation_p.V441A	p.V519A	NM_001939	NP_001930	Q13474	DRP2_HUMAN			15	1925	+			519					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1556T>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.879079	0.91740	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.53	5.53	0.82687	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.88392	0.3009	10	0.87932	D	0	-13.7072	14.683	0.69031	0.0:0.0:0.0:1.0	.	519	Q13474	DRP2_HUMAN	A	519;519;441;519	ENSP00000385038:V519A;ENSP00000378635:V519A;ENSP00000444752:V441A;ENSP00000441051:V519A	ENSP00000378635:V519A	V	+	2	0	DRP2	100392083	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.868000	0.87116	2.044000	0.60594	0.486000	0.48141	GTG		PASS	0.587	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		154	65	154	65	---	---	---	---
ARMCX5	64860	broad.mit.edu	37	X	101857704	101857704	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:101857704A>T	ENST00000604957.1	+	1	3257	c.635A>T	c.(634-636)aAa>aTa	p.K212I	ARMCX5_ENST00000537008.1_Missense_Mutation_p.K212I|ARMCX5_ENST00000541409.1_Missense_Mutation_p.K212I|ARMCX5_ENST00000246174.2_Missense_Mutation_p.K212I|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.K212I|ARMCX5_ENST00000372742.1_Missense_Mutation_p.K212I|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	212								p.K212I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCACACACAAACCCACACTT	0.478																																						uc004ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)AAA>ATA		armadillo repeat containing, X-linked 5							143.0	139.0	140.0					X																	101857704		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857704A>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.635A>T	X.37:g.101857704A>T	ENSP00000474720:p.Lys212Ile					ARMCX5_uc004ejh.2_Missense_Mutation_p.K212I	p.K212I	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1516	+			212					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.635A>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	1.385	-0.582319	0.03827	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.37	-3.9	0.04181	.	1.436920	0.04503	N	0.381611	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21245	-1.0251	10	0.38643	T	0.18	-0.0148	0.964	0.01401	0.2507:0.3494:0.2352:0.1647	.	212	Q6P1M9	ARMX5_HUMAN	I	212	ENSP00000246174:K212I;ENSP00000439001:K212I;ENSP00000446385:K212I;ENSP00000445851:K212I;ENSP00000361827:K212I	ENSP00000246174:K212I	K	+	2	0	ARMCX5	101744360	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.508000	0.06344	-1.008000	0.03404	-0.377000	0.06932	AAA		PASS	0.478	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		10	215	10	215	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102974010	102974010	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:102974010G>T	ENST00000372617.4	-	7	1328	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	303						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S303Y(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCGGGAGCCAGAGCTCTGGGT	0.582																																						uc011mse.1																			2	Substitution - Missense(2)		lung(2)		0						c.(907-909)TCT>TAT		glycine receptor, alpha 4 precursor							74.0	78.0	77.0					X																	102974010		2203	4299	6502	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974010G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.908C>A	X.37:g.102974010G>T	ENSP00000361700:p.Ser303Tyr					GLRA4_uc010nou.2_Missense_Mutation_p.S303Y	p.S303Y	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			7	1329	-			303			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.908C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773651	0.90108	.	.	ENSG00000188828	ENST00000372617	D	0.86030	-2.06	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.107290	0.64402	D	0.000003	D	0.92011	0.7469	M	0.76938	2.355	0.58432	D	0.999994	D;P	0.69078	0.997;0.919	D;P	0.69479	0.964;0.869	D	0.92742	0.6209	10	0.87932	D	0	.	16.3855	0.83503	0.0:0.0:1.0:0.0	.	303;262	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	Y	303	ENSP00000361700:S303Y	ENSP00000361700:S303Y	S	-	2	0	GLRA4	102860666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.562000	0.86427	0.600000	0.82982	TCT		PASS	0.582	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		18	296	18	296	---	---	---	---
PLP1	5354	broad.mit.edu	37	X	103043405	103043405	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:103043405G>T	ENST00000303958.2	+	5	808	c.662G>T	c.(661-663)gGc>gTc	p.G221V	PLP1_ENST00000418604.1_Missense_Mutation_p.G221V|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.G186V	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	221			G -> C (in HLD1). {ECO:0000269|PubMed:7683951}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.G221V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AAGGTTTGTGGCTCCAACCTT	0.463																																						uc010nov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)GGC>GTC		proteolipid protein 1 isoform 1							310.0	275.0	287.0					X																	103043405		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103043405G>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.662G>T	X.37:g.103043405G>T	ENSP00000305152:p.Gly221Val					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.G221V|PLP1_uc004elj.2_Missense_Mutation_p.G186V|PLP1_uc011msf.1_Missense_Mutation_p.G166V|PLP1_uc010nox.2_Missense_Mutation_p.G175V	p.G221V	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			6	942	+			221		G -> C (in HLD1).	Extracellular (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.662G>T	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657587	0.88154	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99422	-5.88;-5.88;-5.88	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.995	D	0.98708	1.0703	10	0.87932	D	0	-3.768	15.4218	0.75018	0.0:0.0:1.0:0.0	.	166;221;221;186	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	V	221;221;186;199	ENSP00000405750:G221V;ENSP00000305152:G221V;ENSP00000354860:G186V	ENSP00000305152:G221V	G	+	2	0	PLP1	102930061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.233000	0.73108	0.594000	0.82650	GGC		PASS	0.463	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			390	210	390	210	---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106185171	106185171	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:106185171T>A	ENST00000355610.4	-	16	2931	c.2657A>T	c.(2656-2658)gAa>gTa	p.E886V	MORC4_ENST00000255495.7_Intron|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	886						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E709V(1)|p.E886V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTAACCTTTCTAGGTCATC	0.478																																						uc004emu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2656-2658)GAA>GTA		zinc finger, CW type with coiled-coil domain 2							135.0	113.0	120.0					X																	106185171		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106185171T>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2657A>T	X.37:g.106185171T>A	ENSP00000347821:p.Glu886Val					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Intron|MORC4_uc004emw.3_Intron	p.E886V	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			16	2900	-			886					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2657A>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	t	12.33	1.905911	0.33628	.	.	ENSG00000133131	ENST00000355610	T	0.12879	2.64	5.46	4.28	0.50868	.	0.313613	0.27725	N	0.018113	T	0.11879	0.0289	L	0.44542	1.39	0.80722	D	1	B	0.20368	0.044	B	0.15870	0.014	T	0.05852	-1.0860	10	0.72032	D	0.01	.	7.5297	0.27677	0.0:0.1025:0.0:0.8975	.	886	Q8TE76	MORC4_HUMAN	V	886	ENSP00000347821:E886V	ENSP00000347821:E886V	E	-	2	0	MORC4	106071827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.767000	0.38501	1.825000	0.53177	0.409000	0.27619	GAA		PASS	0.478	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		12	169	12	169	---	---	---	---
MID2	11043	broad.mit.edu	37	X	107169340	107169340	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:107169340G>T	ENST00000262843.6	+	9	2162	c.1614G>T	c.(1612-1614)ttG>ttT	p.L538F	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.L508F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	538	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.L518F(1)|p.L538F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCTTTAAATTGGATCCCAAAA	0.383																																						uc004enl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1612-1614)TTG>TTT		midline 2 isoform 1							62.0	65.0	64.0					X																	107169340		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169340G>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1614G>T	X.37:g.107169340G>T	ENSP00000262843:p.Leu538Phe					MID2_uc004enk.2_Missense_Mutation_p.L508F	p.L538F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			9	2187	+			538			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1614G>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065020	0.36470	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.76448	-1.02;-1.02	5.63	-3.32	0.04973	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.73938	0.3651	L	0.58428	1.81	0.54753	D	0.999982	P;P	0.43477	0.671;0.808	B;P	0.51266	0.443;0.664	T	0.68014	-0.5521	10	0.21540	T	0.41	.	7.7614	0.28955	0.5338:0.1121:0.3541:0.0	.	538;508	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	538;508	ENSP00000262843:L538F;ENSP00000413976:L508F	ENSP00000262843:L538F	L	+	3	2	MID2	107055996	1.000000	0.71417	0.862000	0.33874	0.979000	0.70002	0.669000	0.25142	-1.005000	0.03417	-0.190000	0.12839	TTG		PASS	0.383	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		9	177	9	177	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	113961348	113961348	+	Start_Codon_SNP	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:113961348G>T	ENST00000276198.1	+	3	731	c.3G>T	c.(1-3)atG>atT	p.M1I	HTR2C_ENST00000371950.3_Start_Codon_SNP_p.M1I|HTR2C_ENST00000371951.1_Start_Codon_SNP_p.M1I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	1					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.M1I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGCAATCATGGTGAACCTGA	0.368																																						uc004epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1-3)ATG>ATT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						84.0	75.0	78.0					X																	113961348		2202	4300	6502	SO:0001582	initiator_codon_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113961348G>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.3G>T	X.37:g.113961348G>T	ENSP00000276198:p.Met1Ile					HTR2C_uc010nqc.1_Missense_Mutation_p.M1I|HTR2C_uc004epv.1_Missense_Mutation_p.M1I	p.M1I	NM_000868	NP_000859	P28335	5HT2C_HUMAN			3	731	+			1			Extracellular (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.3G>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407022	0.42715	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.56444	0.46;0.46;0.52	3.86	3.86	0.44501	.	0.243060	0.34223	N	0.004153	T	0.41858	0.1177	.	.	.	0.80722	D	1	B;B	0.22080	0.064;0.01	B;B	0.15052	0.012;0.004	T	0.44081	-0.9351	9	0.62326	D	0.03	.	10.3072	0.43687	0.0:0.0:1.0:0.0	.	1;1	B1AMW4;P28335	.;5HT2C_HUMAN	I	1	ENSP00000276198:M1I;ENSP00000361019:M1I;ENSP00000361018:M1I	ENSP00000276198:M1I	M	+	3	0	HTR2C	113867604	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.742000	0.47434	2.189000	0.69895	0.513000	0.50165	ATG		PASS	0.368	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	Missense_Mutation	13	7	13	7	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117773511	117773511	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:117773511G>T	ENST00000276202.7	+	38	4178	c.4115G>T	c.(4114-4116)aGc>aTc	p.S1372I	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1372I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1372					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1372I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATCTTAGTAGCCTAGAAAGT	0.408																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4114-4116)AGC>ATC		dedicator of cytokinesis 11							77.0	66.0	70.0					X																	117773511		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117773511G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4115G>T	X.37:g.117773511G>T	ENSP00000276202:p.Ser1372Ile					DOCK11_uc004eqq.2_Missense_Mutation_p.S1151I	p.S1372I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			38	4178	+			1372					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4115G>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589977	0.66105	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.02216	4.39;4.39	5.12	5.12	0.69794	.	0.145260	0.64402	D	0.000012	T	0.07458	0.0188	L	0.47016	1.485	0.43930	D	0.996588	D;D	0.59357	0.985;0.985	P;P	0.56398	0.797;0.797	T	0.18053	-1.0349	10	0.54805	T	0.06	-17.9158	18.0422	0.89322	0.0:0.0:1.0:0.0	.	1372;1372	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1372	ENSP00000276204:S1372I;ENSP00000276202:S1372I	ENSP00000276202:S1372I	S	+	2	0	DOCK11	117657539	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.560000	0.60802	2.284000	0.76573	0.468000	0.43344	AGC		PASS	0.408	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		68	32	68	32	---	---	---	---
RHOXF1	158800	broad.mit.edu	37	X	119249579	119249579	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:119249579C>T	ENST00000217999.2	-	1	268	c.194G>A	c.(193-195)gGc>gAc	p.G65D	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	65					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G65D(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGGATCATGCCGCCATCGCG	0.687																																						uc004esk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGC>GAC		Rhox homeobox family, member 1							47.0	45.0	46.0					X																	119249579		2199	4300	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249579C>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.194G>A	X.37:g.119249579C>T	ENSP00000217999:p.Gly65Asp					uc004esi.1_Intron	p.G65D	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN			1	269	-			65					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.194G>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	c	0.117	-1.130272	0.01756	.	.	ENSG00000101883	ENST00000217999	D	0.90955	-2.76	1.97	-2.82	0.05787	.	.	.	.	.	T	0.73009	0.3532	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60393	-0.7272	9	0.10636	T	0.68	-4.6238	0.0839	0.00034	0.2442:0.1882:0.245:0.3226	.	65	Q8NHV9	RHXF1_HUMAN	D	65	ENSP00000217999:G65D	ENSP00000217999:G65D	G	-	2	0	RHOXF1	119133607	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.443000	0.06862	-0.779000	0.04560	-0.430000	0.05897	GGC		PASS	0.687	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		5	161	5	161	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123870869	123870869	+	Silent	SNP	C	C	A	rs201701923		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:123870869C>A	ENST00000371130.3	-	4	777	c.714G>T	c.(712-714)acG>acT	p.T238T	TENM1_ENST00000422452.2_Silent_p.T238T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	238	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T240T(2)									CTGAATCCTGCGTGCTGGTTG	0.542																																						uc004euj.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(712-714)ACG>ACT		odz, odd Oz/ten-m homolog 1 isoform 3							153.0	142.0	146.0					X																	123870869		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870869C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.714G>T	X.37:g.123870869C>A						ODZ1_uc011muj.1_Silent_p.T238T|ODZ1_uc010nqy.2_Silent_p.T238T	p.T238T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	778	-			238			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.714G>T	CCDS14609.1																																																																																				PASS	0.542	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		19	540	19	540	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128623054	128623054	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:128623054T>A	ENST00000371122.4	-	16	2086	c.1957A>T	c.(1957-1959)Att>Ttt	p.I653F	SMARCA1_ENST00000371121.3_Missense_Mutation_p.I641F|SMARCA1_ENST00000371123.1_Missense_Mutation_p.I641F	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	653	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I653F(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGTTGGTCAATGAGTCTTCCT	0.348																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1957-1959)ATT>TTT		SWI/SNF-related matrix-associated							124.0	93.0	104.0					X																	128623054		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128623054T>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1957A>T	X.37:g.128623054T>A	ENSP00000360163:p.Ile653Phe					SMARCA1_uc004eup.3_Missense_Mutation_p.I641F|SMARCA1_uc011muk.1_Missense_Mutation_p.I653F|SMARCA1_uc011mul.1_Missense_Mutation_p.I641F	p.I653F	NM_003069	NP_003060	P28370	SMCA1_HUMAN			16	2070	-			653			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1957A>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526964	0.44969	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91124	-2.76;-2.76;-2.78;-2.79	5.54	5.54	0.83059	Helicase, C-terminal (1);	0.077520	0.48767	D	0.000169	D	0.83797	0.5332	L	0.27053	0.805	0.53005	D	0.999963	B;B;B;B	0.11235	0.002;0.002;0.004;0.002	B;B;B;B	0.10450	0.002;0.002;0.005;0.003	T	0.79538	-0.1762	10	0.56958	D	0.05	-15.2233	9.2746	0.37692	0.0:0.0816:0.0:0.9184	.	632;653;641;653	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	F	641;641;653;632	ENSP00000360162:I641F;ENSP00000360164:I641F;ENSP00000360163:I653F;ENSP00000404275:I632F	ENSP00000360162:I641F	I	-	1	0	SMARCA1	128450735	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.313000	0.51935	1.845000	0.53610	0.437000	0.28790	ATT		PASS	0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		3	59	3	59	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870167	151870167	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chrX:151870167T>A	ENST00000329342.5	+	3	1082	c.857T>A	c.(856-858)gTc>gAc	p.V286D		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	286	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V286D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TATGTGAAAGTCCTGCACCAT	0.542																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GTC>GAC		melanoma antigen family A, 6							161.0	153.0	156.0					X																	151870167		2202	4299	6501	SO:0001583	missense	4105						protein binding	g.chrX:151870167T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.857T>A	X.37:g.151870167T>A	ENSP00000329199:p.Val286Asp					MAGEA6_uc004ffr.1_Missense_Mutation_p.V286D|MAGEA2_uc010nto.2_Intron	p.V286D	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1051	+	Acute lymphoblastic leukemia(192;6.56e-05)		286			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.857T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	11.24	1.580625	0.28180	.	.	ENSG00000197172	ENST00000329342	T	0.09630	2.96	0.879	-0.568	0.11760	.	.	.	.	.	T	0.35364	0.0929	H	0.95780	3.72	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.14924	-1.0455	9	0.87932	D	0	.	2.9351	0.05811	0.0:0.3428:0.0:0.6572	.	286	P43360	MAGA6_HUMAN	D	286	ENSP00000329199:V286D	ENSP00000329199:V286D	V	+	2	0	MAGEA6	151620823	0.003000	0.15002	0.003000	0.11579	0.135000	0.20990	0.600000	0.24104	-0.228000	0.09869	0.151000	0.16131	GTC		PASS	0.542	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		320	146	320	146	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97512545	97512545	+	Frame_Shift_Del	DEL	G	G	-	rs138548618		TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr6:97512545delG	ENST00000369261.4	+	5	717	c.354delG	c.(352-354)gcgfs	p.A118fs	KLHL32_ENST00000536676.1_Frame_Shift_Del_p.A82fs|KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	118										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGCTAGCAGCGGGCAGTCACC	0.423																																						uc010kcm.1																			0				ovary(3)|skin(1)	4						c.(352-354)GCGfs		kelch-like 32							138.0	106.0	116.0					6																	97512545		2203	4300	6503	SO:0001589	frameshift_variant	114792							g.chr6:97512545delG	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.354delG	6.37:g.97512545delG	ENSP00000358265:p.Ala118fs					KLHL32_uc003poy.2_Frame_Shift_Del_p.A118fs|KLHL32_uc011ead.1_Frame_Shift_Del_p.A82fs|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA	p.A118fs	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	5	826	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	118					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Frame_Shift_Del	DEL	ENST00000369261.4	37	c.354delG	CCDS5038.1																																																																																					0.423	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		62	31	62	31	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					uc003ujw.1																			0					0								Homo sapiens dpy-19-like 2 pseudogene 4 (C. elegans), mRNA (cDNA clone IMAGE:5295327).																																						442523							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC								NR_003551						1		+									RNA	INS	ENST00000478318.2	37	c.214_215insC																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			7	7	7	7	---	---	---	---
PNMA2	10687	broad.mit.edu	37	8	26365632	26365632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr8:26365632delC	ENST00000522362.2	-	3	1534	c.640delG	c.(640-642)gccfs	p.A214fs	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	214					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggtccagggcagggccccgc	0.552																																						uc003xez.2																			0					0						c.(640-642)GCCfs		paraneoplastic antigen MA2							84.0	85.0	85.0					8																	26365632		2203	4300	6503	SO:0001589	frameshift_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26365632delC		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.640delG	8.37:g.26365632delC	ENSP00000429344:p.Ala214fs						p.A214fs	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1410	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	214					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Frame_Shift_Del	DEL	ENST00000522362.2	37	c.640delG	CCDS34868.1																																																																																					0.552	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		109	128	109	128	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96612635	96612635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr10:96612635delC	ENST00000371321.3	+	9	1519	c.1437delC	c.(1435-1437)gtcfs	p.V479fs	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	479					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGCTTCTGTCCCGCCCTTCT	0.463																																						uc010qnz.1																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1435-1437)GTCfs		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						162.0	142.0	149.0					10																	96612635		2203	4300	6503	SO:0001589	frameshift_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612635delC	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1437delC	10.37:g.96612635delC	ENSP00000360372:p.Val479fs					CYP2C19_uc010qny.1_Frame_Shift_Del_p.V457fs	p.V479fs	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1437	+		Colorectal(252;0.09)	479					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Frame_Shift_Del	DEL	ENST00000371321.3	37	c.1437delC	CCDS7436.1																																																																																					0.463	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		61	114	61	114	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004147	57004147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr11:57004147delA	ENST00000606794.1	-	1	528	c.332delT	c.(331-333)gtcfs	p.V111fs		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	111					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTACATGTTGACGAAGATGAG	0.612																																						uc001njo.2																			0				lung(5)|ovary(1)	6						c.(331-333)GTCfs		apelin receptor							65.0	47.0	53.0					11																	57004147		2201	4296	6497	SO:0001589	frameshift_variant	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004147delA	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.332delT	11.37:g.57004147delA	ENSP00000475344:p.Val111fs					APLNR_uc001njn.3_RNA	p.V111fs	NM_005161	NP_005152	P35414	APJ_HUMAN			1	781	-			111			Helical; Name=3; (Potential).			Frame_Shift_Del	DEL	ENST00000606794.1	37	c.332delT	CCDS7950.1																																																																																					0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		17	48	17	48	---	---	---	---
USP22	23326	broad.mit.edu	37	17	20907656	20907657	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:20907656_20907657delAG	ENST00000261497.4	-	12	1596_1597	c.1393_1394delCT	c.(1393-1395)ctgfs	p.L465fs	USP22_ENST00000455117.2_Intron|RP11-344E13.3_ENST00000581958.1_RNA|USP22_ENST00000537526.2_Frame_Shift_Del_p.L453fs|RP11-344E13.3_ENST00000583481.1_RNA	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	465	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AACAGCAAACAGGGAATACCTA	0.545																																						uc002gym.3																			0				lung(1)	1						c.(1393-1395)CTGfs		ubiquitin thiolesterase 22																																				SO:0001589	frameshift_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20907656_20907657delAG	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1393_1394delCT	17.37:g.20907656_20907657delAG	ENSP00000261497:p.Leu465fs					USP22_uc002gyn.3_Frame_Shift_Del_p.L453fs|USP22_uc002gyl.3_Frame_Shift_Del_p.L360fs	p.L465fs	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			12	1597_1598	-			465					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Frame_Shift_Del	DEL	ENST00000261497.4	37	c.1393_1394delCT	CCDS42285.1																																																																																					0.545	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			50	180	50	180	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67022584	67022585	+	Frame_Shift_Ins	INS	-	-	A			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr17:67022584_67022585insA	ENST00000340001.4	-	16	2285_2286	c.2074_2075insT	c.(2074-2076)gggfs	p.G692fs	ABCA9_ENST00000453985.2_Frame_Shift_Ins_p.G692fs|ABCA9_ENST00000370732.2_Frame_Shift_Ins_p.G692fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	692	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTCAGCTTCCCATTGGATATG	0.381																																						uc002jhu.2																			0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(2074-2076)GGGfs		ATP-binding cassette, sub-family A, member 9																																				SO:0001589	frameshift_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022584_67022585insA	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2074_2075insT	17.37:g.67022584_67022585insA	ENSP00000342216:p.Gly692fs					ABCA9_uc010dez.2_Frame_Shift_Ins_p.G692fs	p.G692fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			16	2217_2218	-	Breast(10;1.47e-12)		692			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Frame_Shift_Ins	INS	ENST00000340001.4	37	c.2074_2075insT	CCDS11681.1																																																																																					0.381	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		107	284	107	284	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47799999	47799999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:47799999delC	ENST00000591416.1	-	12	1812	c.1381delG	c.(1381-1383)gaafs	p.E461fs	MBD1_ENST00000585595.1_Frame_Shift_Del_p.E486fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.E438fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.E412fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.E405fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.E461fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.E461fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.E461fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.E486fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.E405fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.E405fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.E461fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.E438fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.E405fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.E411fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.E430fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.E438fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.E438fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.E512fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.E405fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	461					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTTGCGCCTTCCCGTAAAAAC	0.632																																						uc010dow.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1381-1383)GAAfs		methyl-CpG binding domain protein 1 isoform 1							50.0	47.0	48.0					18																	47799999		2203	4300	6503	SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799999delC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1381delG	18.37:g.47799999delC	ENSP00000467017:p.Glu461fs					MBD1_uc002lef.2_Frame_Shift_Del_p.E212fs|MBD1_uc002leg.2_Frame_Shift_Del_p.E411fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.E512fs|MBD1_uc002leh.3_Frame_Shift_Del_p.E405fs|MBD1_uc002len.2_Frame_Shift_Del_p.E461fs|MBD1_uc002lei.3_Frame_Shift_Del_p.E461fs|MBD1_uc002lej.3_Frame_Shift_Del_p.E405fs|MBD1_uc002lek.3_Frame_Shift_Del_p.E412fs|MBD1_uc002lel.3_Frame_Shift_Del_p.E438fs|MBD1_uc002lem.3_Frame_Shift_Del_p.E461fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.E405fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.E486fs|MBD1_uc010dox.1_Frame_Shift_Del_p.E438fs|MBD1_uc002leo.2_Frame_Shift_Del_p.E461fs	p.E461fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			12	1818	-			461					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.1381delG	CCDS11943.1																																																																																					0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		112	69	112	69	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74980742	74980742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr18:74980742delA	ENST00000299727.3	+	3	934	c.934delA	c.(934-936)aagfs	p.K312fs		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	312					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		AAATTTCAGGAAGGCCTATAA	0.443																																						uc002lms.3																			0				lung(1)	1						c.(934-936)AAGfs		galanin receptor 1							72.0	76.0	75.0					18																	74980742		2203	4300	6503	SO:0001589	frameshift_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980742delA	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.934delA	18.37:g.74980742delA	ENSP00000299727:p.Lys312fs						p.K312fs	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1431	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	312			Cytoplasmic (Potential).		Q4VBL7	Frame_Shift_Del	DEL	ENST00000299727.3	37	c.934delA	CCDS12012.1																																																																																					0.443	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			131	76	131	76	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47879705	47879705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr19:47879705delC	ENST00000328771.4	+	12	2836	c.2487delC	c.(2485-2487)ttcfs	p.F829fs		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	829					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCAGATTTTCCACACGCAGG	0.652																																						uc010xyn.1																			0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(2485-2487)TTCfs		DEAH (Asp-Glu-Ala-His) box polypeptide 34							30.0	29.0	29.0					19																	47879705		2200	4300	6500	SO:0001589	frameshift_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879705delC	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2487delC	19.37:g.47879705delC	ENSP00000331907:p.Phe829fs					DHX34_uc010xyo.1_5'Flank	p.F829fs	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	12	2828	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	829					B4DMY8	Frame_Shift_Del	DEL	ENST00000328771.4	37	c.2487delC	CCDS12700.1																																																																																					0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		47	23	47	23	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-33-4533-01A-01D-1267-08	TCGA-33-4533-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52b8c7c1-2cfe-410d-a738-1dec43109e24	a2f81c91-c632-4d91-8ef0-97592e267307	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					uc002wdf.2																			3	Deletion - In frame(3)		prostate(2)|large_intestine(1)		0						c.(460-465)CCGGCG>CCG		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del					ZCCHC3_uc002wdg.2_Intron	p.A158del	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	485_487	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	158			Poly-Ala.		Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																					0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			3	3	3	3	---	---	---	---
