#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
KIF1B	23095	broad.mit.edu	37	1	10425653	10425653	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:10425653G>A	ENST00000377086.1	+	43	4901	c.4699G>A	c.(4699-4701)Gat>Aat	p.D1567N	KIF1B_ENST00000377081.1_Missense_Mutation_p.D1567N|KIF1B_ENST00000263934.6_Missense_Mutation_p.D1521N			O60333	KIF1B_HUMAN	kinesin family member 1B	1567					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D1521N(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTGGCTATGATTCAGGAGA	0.542																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4699-4701)GAT>AAT		kinesin family member 1B isoform b							110.0	101.0	104.0					1																	10425653		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425653G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4699G>A	1.37:g.10425653G>A	ENSP00000366290:p.Asp1567Asn					KIF1B_uc001aqw.3_Missense_Mutation_p.D1521N|KIF1B_uc001aqy.2_Missense_Mutation_p.D1541N|KIF1B_uc001aqz.2_Missense_Mutation_p.D1567N|KIF1B_uc001ara.2_Missense_Mutation_p.D1527N|KIF1B_uc001arb.2_Missense_Mutation_p.D1553N	p.D1567N	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4901	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1567					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4699G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.982712	0.74474	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72167	-0.55;-0.63;-0.63	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	N	0.19112	0.55	0.80722	D	1	P;P;P;B;P;D	0.57257	0.596;0.454;0.839;0.227;0.652;0.979	B;B;B;B;B;P	0.54140	0.154;0.15;0.2;0.119;0.083;0.743	T	0.63413	-0.6643	10	0.17369	T	0.5	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1553;1527;1567;1541;1567;1521	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	N	1567;1521;1567;1567	ENSP00000263934:D1521N;ENSP00000366290:D1567N;ENSP00000366284:D1567N	ENSP00000263934:D1521N	D	+	1	0	KIF1B	10348240	1.000000	0.71417	0.981000	0.43875	0.871000	0.50021	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAT		PASS	0.542	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			59	66	59	66	---	---	---	---
C1orf64	149563	broad.mit.edu	37	1	16332706	16332706	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:16332706C>T	ENST00000329454.2	+	2	443	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	125								p.S125S(1)		breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGTCAGCCCGCTCTGCC	0.642																																						uc001axn.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(373-375)AGC>AGT		hypothetical protein LOC149563							40.0	43.0	42.0					1																	16332706		2203	4300	6503	SO:0001819	synonymous_variant	149563							g.chr1:16332706C>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.375C>T	1.37:g.16332706C>T							p.S125S	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	443	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	125					B3KXI9	Silent	SNP	ENST00000329454.2	37	c.375C>T	CCDS166.1																																																																																				PASS	0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		29	31	29	31	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21031124	21031124	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:21031124C>T	ENST00000247986.2	-	5	1249	c.939G>A	c.(937-939)tcG>tcA	p.S313S	KIF17_ENST00000375044.1_Silent_p.S213S|KIF17_ENST00000400463.3_Silent_p.S313S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	313	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S313S(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTCCGCAGGCGACAGGCAGG	0.622																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(937-939)TCG>TCA		kinesin family member 17 isoform a							146.0	113.0	124.0					1																	21031124		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031124C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.939G>A	1.37:g.21031124C>T						KIF17_uc001bds.3_Silent_p.S313S	p.S313S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1057	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	313					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.939G>A	CCDS213.1																																																																																				PASS	0.622	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		22	53	22	53	---	---	---	---
HMGCL	3155	broad.mit.edu	37	1	24144041	24144041	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:24144041C>A	ENST00000374490.3	-	3	220	c.177G>T	c.(175-177)ctG>ctT	p.L59L	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000374483.4_Silent_p.L34L|HMGCL_ENST00000436439.2_Silent_p.L59L	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	59					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L59L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GCATGTCTATCAGCTTGATTT	0.448																																						uc001bib.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(175-177)CTG>CTT		3-hydroxy-3-methylglutaryl CoA lyase isoform 1							95.0	92.0	93.0					1																	24144041		2203	4300	6503	SO:0001819	synonymous_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24144041C>A	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.177G>T	1.37:g.24144041C>A						HMGCL_uc010oec.1_Silent_p.L59L|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.L34L|HMGCL_uc009vqs.1_Silent_p.L59L|HMGCL_uc001bid.1_Silent_p.L59L	p.L59L	NM_000191	NP_000182	P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	3	221	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	59					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	c.177G>T	CCDS243.1																																																																																				PASS	0.448	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		45	46	45	46	---	---	---	---
KDF1	126695	broad.mit.edu	37	1	27277975	27277975	+	Silent	SNP	G	G	A	rs142079202		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:27277975G>A	ENST00000320567.5	-	2	985	c.897C>T	c.(895-897)cgC>cgT	p.R299R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		299					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)		p.R299R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAATGATGCCGCGTACCAGGC	0.602																																						uc001bni.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(895-897)CGC>CGT		hypothetical protein LOC126695		G		0,4406		0,0,2203	59.0	53.0	55.0		897	-11.0	0.1	1	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf172	NM_152365.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		299/399	27277975	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27277975G>A																												ENST00000320567.5:c.897C>T	1.37:g.27277975G>A							p.R299R	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	986	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	299					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.897C>T	CCDS293.1																																																																																				PASS	0.602	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			17	23	17	23	---	---	---	---
S100PBP	64766	broad.mit.edu	37	1	33292386	33292386	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:33292386C>T	ENST00000373475.5	+	3	940	c.686C>T	c.(685-687)cCt>cTt	p.P229L	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.P229L|S100PBP_ENST00000398243.3_Missense_Mutation_p.P229L	NM_022753.3	NP_073590.2			S100P binding protein									p.P229L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AAAAATATGCCTGACAGTGAG	0.448																																						uc001bvz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CCT>CTT		S100P binding protein isoform a							73.0	76.0	75.0					1																	33292386		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292386C>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.686C>T	1.37:g.33292386C>T	ENSP00000362574:p.Pro229Leu					S100PBP_uc001bwa.1_Missense_Mutation_p.P229L|S100PBP_uc001bwb.1_Missense_Mutation_p.P229L|S100PBP_uc001bwc.2_Missense_Mutation_p.P229L|S100PBP_uc001bwd.2_RNA	p.P229L	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	963	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	229						Missense_Mutation	SNP	ENST00000373475.5	37	c.686C>T	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	C	5.069	0.198451	0.09652	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.63	1.66	0.24008	.	0.645747	0.15312	N	0.269015	T	0.22589	0.0545	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.14980	-1.0453	8	.	.	.	-0.142	3.702	0.08386	0.1739:0.5606:0.0:0.2655	.	229;229	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	L	229	.	.	P	+	2	0	S100PBP	33064973	0.001000	0.12720	0.565000	0.28409	0.140000	0.21249	-0.212000	0.09319	0.419000	0.25927	0.655000	0.94253	CCT		PASS	0.448	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		44	52	44	52	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34158654	34158654	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:34158654C>T	ENST00000373380.1	-	4	767	c.547G>A	c.(547-549)Gag>Aag	p.E183K	CSMD2_ENST00000373381.4_Missense_Mutation_p.E1310K|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1270	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1270K(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCCACACTCGGCTGAAAGA	0.557																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3808-3810)GAG>AAG		CUB and Sushi multiple domains 2							115.0	119.0	118.0					1																	34158654		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34158654C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.547G>A	1.37:g.34158654C>T	ENSP00000362478:p.Glu183Lys					CSMD2_uc001bxm.1_Missense_Mutation_p.E1310K|CSMD2_uc001bxo.1_Missense_Mutation_p.E183K	p.E1270K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			25	3837	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1270			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3808G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.763816	0.96906	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.23348	1.91;1.91	5.52	5.52	0.82312	CUB (2);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.71920	2.185	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.997	P;P;D	0.65233	0.78;0.893;0.933	T	0.27938	-1.0059	10	0.17369	T	0.5	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	183;1270;1310	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1310;183	ENSP00000362479:E1310K;ENSP00000362478:E183K	ENSP00000241312:E1270K	E	-	1	0	CSMD2	33931241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAG		PASS	0.557	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		90	105	90	105	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34190206	34190206	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:34190206C>T	ENST00000373381.4	-	18	2971	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	892	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S892N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGAGTCACAGCTGAAGGTCAC	0.572																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2674-2676)AGC>AAC		CUB and Sushi multiple domains 2							79.0	75.0	76.0					1																	34190206		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190206C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2795G>A	1.37:g.34190206C>T	ENSP00000362479:p.Ser932Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.S932N	p.S892N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			18	2704	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	892			Sushi 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2675G>A		.	.	.	.	.	.	.	.	.	.	C	18.80	3.700979	0.68501	.	.	ENSG00000121904	ENST00000373381	T	0.66280	-0.2	5.74	4.82	0.62117	Complement control module (2);Sushi/SCR/CCP (3);	0.046090	0.85682	D	0.000000	T	0.63628	0.2527	M	0.67625	2.065	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.24394	0.053;0.035	T	0.62651	-0.6809	10	0.54805	T	0.06	.	15.9039	0.79403	0.0:0.8645:0.1355:0.0	.	892;932	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	932	ENSP00000362479:S932N	ENSP00000241312:S892N	S	-	2	0	CSMD2	33962793	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.955000	0.63638	1.415000	0.47037	0.655000	0.94253	AGC		PASS	0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		33	38	33	38	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34190229	34190229	+	Nonsense_Mutation	SNP	G	G	C	rs367756658		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:34190229G>C	ENST00000373381.4	-	18	2948	c.2772C>G	c.(2770-2772)taC>taG	p.Y924*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	884	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y884*(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGCGCCCACGTAGAAGTCAT	0.572																																						uc001bxn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2650-2652)TAC>TAG		CUB and Sushi multiple domains 2							84.0	78.0	80.0					1																	34190229		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190229G>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2772C>G	1.37:g.34190229G>C	ENSP00000362479:p.Tyr924*					CSMD2_uc001bxm.1_Nonsense_Mutation_p.Y924*	p.Y884*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			18	2681	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	884			Sushi 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373381.4	37	c.2652C>G		.	.	.	.	.	.	.	.	.	.	G	41	8.606225	0.98881	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.74	-4.12	0.03916	.	0.071128	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1488	0.72681	0.6189:0.0:0.3811:0.0	.	.	.	.	X	924	.	ENSP00000241312:Y884X	Y	-	3	2	CSMD2	33962816	0.018000	0.18449	0.912000	0.35992	0.817000	0.46193	-0.854000	0.04299	-0.979000	0.03529	-0.797000	0.03246	TAC		PASS	0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		36	38	36	38	---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36564304	36564304	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:36564304G>C	ENST00000397799.1	-	4	1202	c.978C>G	c.(976-978)gaC>gaG	p.D326E	COL8A2_ENST00000303143.4_Missense_Mutation_p.D326E|COL8A2_ENST00000481785.1_Missense_Mutation_p.D261E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	326	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.D326E(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGCCCCTGTCCCCCTTGG	0.726																																						uc001bzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(976-978)GAC>GAG		collagen, type VIII, alpha 2 precursor							10.0	12.0	11.0					1																	36564304		2003	4003	6006	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564304G>C	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.978C>G	1.37:g.36564304G>C	ENSP00000380901:p.Asp326Glu					COL8A2_uc001bzw.1_Missense_Mutation_p.D261E	p.D326E	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	985	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	326			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.978C>G	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.046002	0.08243	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.93366	-3.21;-3.21;-3.21	3.83	0.519	0.17035	.	0.112223	0.64402	D	0.000014	T	0.80560	0.4646	N	0.12527	0.23	0.52501	D	0.999958	B	0.18310	0.027	B	0.17979	0.02	T	0.66288	-0.5961	10	0.07325	T	0.83	.	5.3932	0.16255	0.2639:0.0:0.5845:0.1516	.	326	P25067	CO8A2_HUMAN	E	326;326;261	ENSP00000305913:D326E;ENSP00000380901:D326E;ENSP00000436433:D261E	ENSP00000305913:D326E	D	-	3	2	COL8A2	36336891	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.968000	0.29357	0.315000	0.23110	-0.513000	0.04457	GAC		PASS	0.726	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	13	11	13	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	T	rs570067770		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:44069850G>T	ENST00000359947.4	+	16	3367	c.3027G>T	c.(3025-3027)ccG>ccT	p.P1009P	PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000372413.3_Silent_p.P1000P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622																																						uc001cjr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3025-3027)CCG>CCT		protein tyrosine phosphatase, receptor type, F							63.0	59.0	60.0					1																	44069850		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069850G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3027G>T	1.37:g.44069850G>T						PTPRF_uc001cjs.2_Silent_p.P1000P|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.P569P|PTPRF_uc001cjv.2_Silent_p.P469P|PTPRF_uc001cjw.2_Silent_p.P235P	p.P1009P	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	3367	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3027G>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.010|0.010	-1.759262|-1.759262	0.00657|0.00657	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	C|L	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG		PASS	0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			39	28	39	28	---	---	---	---
NSUN4	387338	broad.mit.edu	37	1	46812705	46812705	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:46812705C>T	ENST00000474844.1	+	3	1200	c.550C>T	c.(550-552)Cct>Tct	p.P184S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.P135S|NSUN4_ENST00000537428.1_Missense_Mutation_p.P135S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	184	S-adenosyl-L-methionine binding.				rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)	p.P184S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGTGCAGCTCCTGGGGGAAA	0.597																																						uc001cpr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CCT>TCT		NOL1/NOP2/Sun domain family 4 protein							124.0	110.0	115.0					1																	46812705		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46812705C>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.550C>T	1.37:g.46812705C>T	ENSP00000419740:p.Pro184Ser					NSUN4_uc010omc.1_Missense_Mutation_p.P135S|NSUN4_uc009vyf.1_Intron|NSUN4_uc009vyg.1_Missense_Mutation_p.P135S|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	p.P184S	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN			3	659	+	Acute lymphoblastic leukemia(166;0.155)		184			S-adenosyl-L-methionine binding (By similarity).		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.550C>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513200	0.96402	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.37411	1.2;1.2;1.2	6.17	6.17	0.99709	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.046390	0.85682	D	0.000000	T	0.75831	0.3903	H	0.97516	4.02	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.83381	0.0012	10	0.87932	D	0	-16.2765	20.4745	0.99168	0.0:1.0:0.0:0.0	.	184	Q96CB9	NSUN4_HUMAN	S	184;135;135	ENSP00000419740:P184S;ENSP00000438912:P135S;ENSP00000437758:P135S	ENSP00000419740:P184S	P	+	1	0	NSUN4	46585292	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.602000	0.82796	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.597	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		42	41	42	41	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74832987	74832987	+	Missense_Mutation	SNP	G	G	T	rs200264396		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:74832987G>T	ENST00000370899.3	+	14	1565	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.D510Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D523Y|TNNI3K_ENST00000370891.2_Missense_Mutation_p.D510Y|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D409Y|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.D409Y(1)									GAGACCACAAGATGAATTGCC	0.348																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1225-1227)GAT>TAT		TNNI3 interacting kinase isoform b							151.0	161.0	158.0					1																	74832987		2203	4299	6502	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74832987G>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1528G>T	1.37:g.74832987G>T	ENSP00000359936:p.Asp510Tyr					TNNI3K_uc001dgc.1_Missense_Mutation_p.D510Y|TNNI3K_uc001dgd.2_Missense_Mutation_p.D510Y|TNNI3K_uc001dge.1_Missense_Mutation_p.D510Y	p.D409Y	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			12	1276	+			409			ANK 10.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1225G>T		.	.	.	.	.	.	.	.	.	.	G	18.64	3.667833	0.67814	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.75154	-0.91;-0.63;-0.91;-0.91;-0.89	5.62	5.62	0.85841	Ankyrin repeat-containing domain (1);	0.102384	0.64402	D	0.000003	T	0.78861	0.4350	L	0.45470	1.425	0.80722	D	1	B;B;D;D	0.63880	0.041;0.373;0.993;0.983	B;B;P;P	0.61592	0.031;0.117;0.891;0.804	T	0.80181	-0.1489	10	0.72032	D	0.01	.	19.6717	0.95914	0.0:0.0:1.0:0.0	.	409;510;510;510	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	Y	510;510;131;510;510;409	ENSP00000359936:D510Y;ENSP00000359932:D510Y;ENSP00000450895:D510Y;ENSP00000359928:D510Y;ENSP00000322251:D409Y	ENSP00000322251:D409Y	D	+	1	0	RP11-653A5.2;AC093158.1	74605575	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.204000	0.95041	2.649000	0.89929	0.555000	0.69702	GAT		PASS	0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			60	75	60	75	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75072431	75072431	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:75072431T>C	ENST00000326665.5	-	10	1561	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	C1orf173_ENST00000420661.2_Missense_Mutation_p.N251S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		448	Glu-rich.							p.N448S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAGGTTTTGTTCTCCTTGAT	0.408																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1342-1344)AAC>AGC		hypothetical protein LOC127254							177.0	177.0	177.0					1																	75072431		2202	4299	6501	SO:0001583	missense	127254							g.chr1:75072431T>C																												ENST00000326665.5:c.1343A>G	1.37:g.75072431T>C	ENSP00000322609:p.Asn448Ser					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.N242S	p.N448S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1562	-			448			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1343A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	0.373	-0.933108	0.02359	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17213	2.79;2.29	4.72	-1.88	0.07713	.	.	.	.	.	T	0.02455	0.0075	N	0.21373	0.66	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.48019	-0.9071	9	0.09843	T	0.71	-1.9543	9.0961	0.36640	0.0:0.3959:0.0:0.6041	.	251;448	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	S	448;251	ENSP00000322609:N448S;ENSP00000398581:N251S	ENSP00000322609:N448S	N	-	2	0	C1orf173	74845019	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.282000	0.08445	-0.439000	0.07222	-0.256000	0.11100	AAC		PASS	0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			4	238	4	238	---	---	---	---
SAMD13	148418	broad.mit.edu	37	1	84791382	84791382	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:84791382A>G	ENST00000370671.3	+	3	235	c.176A>G	c.(175-177)tAt>tGt	p.Y59C	SAMD13_ENST00000370670.2_Missense_Mutation_p.Y39C|SAMD13_ENST00000370668.3_Missense_Mutation_p.Y39C|SAMD13_ENST00000370669.1_Missense_Mutation_p.Y39C|SAMD13_ENST00000394834.3_Missense_Mutation_p.Y39C|SAMD13_ENST00000370673.3_Missense_Mutation_p.Y53C			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	59	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.Y53C(1)		lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		GTCGTCAATTATTTCCGAACC	0.473																																						uc001djr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)TAT>TGT		sterile alpha motif domain containing 13 isoform							169.0	144.0	153.0					1																	84791382		2203	4300	6503	SO:0001583	missense	148418							g.chr1:84791382A>G		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.176A>G	1.37:g.84791382A>G	ENSP00000359705:p.Tyr59Cys					SAMD13_uc010orw.1_Missense_Mutation_p.Y39C|SAMD13_uc010orx.1_Missense_Mutation_p.Y39C	p.Y53C	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN		all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)	3	350	+			59			SAM.		B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	37	c.158A>G		.	.	.	.	.	.	.	.	.	.	A	17.54	3.415407	0.62511	.	.	ENSG00000203943	ENST00000370673;ENST00000370671;ENST00000394834;ENST00000370669;ENST00000370668;ENST00000370670;ENST00000454967	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.2	4.07	0.47477	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.140766	0.49305	D	0.000147	T	0.58921	0.2156	M	0.83483	2.645	0.80722	D	1	D;B	0.71674	0.998;0.101	D;B	0.73380	0.98;0.039	T	0.65606	-0.6127	10	0.87932	D	0	-9.2267	9.9569	0.41673	0.9179:0.0:0.0821:0.0	.	59;53	Q5VXD3;Q5VXD3-2	SAM13_HUMAN;.	C	53;59;39;39;39;39;7	ENSP00000359707:Y53C;ENSP00000359705:Y59C;ENSP00000378311:Y39C;ENSP00000359703:Y39C;ENSP00000359702:Y39C;ENSP00000359704:Y39C	ENSP00000359702:Y39C	Y	+	2	0	SAMD13	84563970	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.558000	0.73942	0.823000	0.34589	0.533000	0.62120	TAT		PASS	0.473	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		38	37	38	37	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91844640	91844640	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:91844640G>T	ENST00000370425.3	-	9	1236	c.1138C>A	c.(1138-1140)Cat>Aat	p.H380N	HFM1_ENST00000370424.3_Missense_Mutation_p.H59N|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	380	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.H380N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATAATAATATGGGCATGCTGA	0.279																																						uc001doa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)CAT>AAT		HFM1 protein							76.0	73.0	74.0					1																	91844640		2203	4299	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91844640G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1138C>A	1.37:g.91844640G>T	ENSP00000359454:p.His380Asn					HFM1_uc010osu.1_Missense_Mutation_p.H59N|HFM1_uc010osv.1_Missense_Mutation_p.H64N|HFM1_uc001doc.1_Missense_Mutation_p.H380N	p.H380N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	9	1238	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	380			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1138C>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	2.329	-0.353812	0.05173	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.70631	-0.5;1.35	5.42	3.35	0.38373	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.41500	U	0.000868	T	0.25344	0.0616	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.13145	0.002;0.007;0.004	B;B;B	0.18561	0.004;0.022;0.022	T	0.07214	-1.0784	10	0.26408	T	0.33	.	6.301	0.21113	0.0712:0.1168:0.6426:0.1694	.	59;380;380	A6NGI5;B7ZM16;A2PYH4	.;.;HFM1_HUMAN	N	380;59;64;413	ENSP00000359454:H380N;ENSP00000359453:H59N	ENSP00000359450:H64N	H	-	1	0	HFM1	91617228	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.020000	0.49643	0.467000	0.27218	0.563000	0.77884	CAT		PASS	0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		31	31	31	31	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99771997	99771997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:99771997C>T	ENST00000370185.3	+	7	2220	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R517*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R417*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		575					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R575*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAGCCAGCCCCGAATCATGCA	0.552																																						uc001dse.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1723-1725)CGA>TGA		plasticity related gene 1							58.0	59.0	59.0					1																	99771997		2203	4300	6503	SO:0001587	stop_gained	9890						phosphatidate phosphatase activity	g.chr1:99771997C>T																												ENST00000370185.3:c.1723C>T	1.37:g.99771997C>T	ENSP00000359204:p.Arg575*					LPPR4_uc010oue.1_Nonsense_Mutation_p.R517*	p.R575*	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1829	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	575					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	c.1723C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	42	9.262156	0.99118	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	.	.	.	5.85	3.89	0.44902	.	0.123358	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.862	14.2356	0.65925	0.492:0.508:0.0:0.0	.	.	.	.	X	575;517;417	.	.	R	+	1	2	RP4-788L13.1	99544585	0.968000	0.33430	0.975000	0.42487	0.993000	0.82548	2.346000	0.44027	1.462000	0.47948	0.655000	0.94253	CGA		PASS	0.552	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			39	41	39	41	---	---	---	---
FRRS1	391059	broad.mit.edu	37	1	100185123	100185123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:100185123C>A	ENST00000414213.1	-	10	1688	c.1087G>T	c.(1087-1089)Gga>Tga	p.G363*	FRRS1_ENST00000287474.5_Nonsense_Mutation_p.G363*			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	363	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.G363*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GAATGGGATCCTCCTATGTTC	0.398																																						uc001dsh.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1087-1089)GGA>TGA		stromal cell derived factor receptor 2 homolog							130.0	116.0	121.0					1																	100185123		2203	4300	6503	SO:0001587	stop_gained	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100185123C>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1087G>T	1.37:g.100185123C>A	ENSP00000393884:p.Gly363*						p.G363*	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	10	1689	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	363			Cytochrome b561.		A6NLN7	Nonsense_Mutation	SNP	ENST00000414213.1	37	c.1087G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.291546	0.98745	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.96	5.96	0.96718	.	0.109197	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.9675	18.1812	0.89779	0.0:1.0:0.0:0.0	.	.	.	.	X	363	.	ENSP00000287474:G363X	G	-	1	0	FRRS1	99957711	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	4.939000	0.63526	2.814000	0.96858	0.655000	0.94253	GGA		PASS	0.398	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		67	70	67	70	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111854968	111854968	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:111854968G>T	ENST00000369740.1	+	4	315	c.212G>T	c.(211-213)tGg>tTg	p.W71L	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.W71L|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	71	Chitooligosaccharide binding. {ECO:0000305}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.W71L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCATCGAATGGAATGATGTG	0.483																																						uc001eas.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)TGG>TTG		acidic chitinase isoform c							123.0	117.0	119.0					1																	111854968		1987	4160	6147	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854968G>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.212G>T	1.37:g.111854968G>T	ENSP00000358755:p.Trp71Leu					CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.W71L	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	315	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	71			Chitooligosaccharide binding (Probable).		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.212G>T	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721285	0.68959	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04234	3.67;3.67	4.93	4.0	0.46444	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000010	T	0.08133	0.0203	M	0.91196	3.185	0.80722	D	1	B	0.34200	0.441	B	0.40285	0.325	T	0.00373	-1.1781	10	0.54805	T	0.06	-0.1991	12.8917	0.58076	0.0:0.0:0.8367:0.1633	.	71	Q9BZP6	CHIA_HUMAN	L	71	ENSP00000358755:W71L;ENSP00000341828:W71L	ENSP00000341828:W71L	W	+	2	0	CHIA	111656491	1.000000	0.71417	0.922000	0.36590	0.726000	0.41606	4.833000	0.62766	1.166000	0.42689	0.655000	0.94253	TGG		PASS	0.483	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			71	68	71	68	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120054257	120054257	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:120054257C>A	ENST00000369413.3	+	3	422	c.277C>A	c.(277-279)Cac>Aac	p.H93N	HSD3B1_ENST00000528909.1_Missense_Mutation_p.H93N|HSD3B1_ENST00000235547.6_Missense_Mutation_p.H95N			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	93					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.H93N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CGGTGTCACTCACAGAGAGTC	0.507																																						uc001ehv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(277-279)CAC>AAC		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						119.0	112.0	114.0					1																	120054257		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120054257C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.277C>A	1.37:g.120054257C>A	ENSP00000358421:p.His93Asn					HSD3B1_uc001ehw.2_Missense_Mutation_p.H95N	p.H93N	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	3	422	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	93					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.277C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	3.966	-0.009413	0.07727	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.86865	-2.18;-2.18;-2.18	3.11	-0.321	0.12717	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.880529	0.10095	N	0.716689	T	0.44787	0.1310	N	0.03948	-0.315	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.11329	0.004;0.006	T	0.40869	-0.9540	9	.	.	.	-16.5669	4.7264	0.12943	0.5227:0.3601:0.0:0.1173	.	95;93	Q5TDG2;P14060	.;3BHS1_HUMAN	N	93;95;93	ENSP00000358421:H93N;ENSP00000235547:H95N;ENSP00000432268:H93N	.	H	+	1	0	HSD3B1	119855780	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.209000	0.17435	0.064000	0.16427	0.313000	0.20887	CAC		PASS	0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		37	50	37	50	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144856920	144856920	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:144856920C>T	ENST00000369354.3	-	40	6754	c.6565G>A	c.(6565-6567)Gcc>Acc	p.A2189T	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2189T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2083T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2325T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2274T|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2189					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2189T(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTCTTAGGGCACTGTAGTCA	0.527			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6565-6567)GCC>ACC		phosphodiesterase 4D interacting protein isoform							41.0	39.0	39.0					1																	144856920		2192	4257	6449	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856920C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6565G>A	1.37:g.144856920C>T	ENSP00000358360:p.Ala2189Thr					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A2083T|PDE4DIP_uc001elv.3_Missense_Mutation_p.A1196T	p.A2189T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6856	-			2189					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6565G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.732933	0.30684	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02197	4.4;4.44;4.42;4.5;4.47	4.48	3.55	0.40652	.	.	.	.	.	T	0.01189	0.0039	L	0.55481	1.735	0.80722	D	1	B;B	0.16603	0.018;0.015	B;B	0.19946	0.027;0.017	T	0.46076	-0.9217	8	.	.	.	.	10.9696	0.47432	0.0:0.9043:0.0:0.0957	.	2083;2189	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	2083;2189;2189;2274;2325	ENSP00000327209:A2083T;ENSP00000358360:A2189T;ENSP00000358363:A2189T;ENSP00000435654:A2274T;ENSP00000358366:A2325T	.	A	-	1	0	PDE4DIP	143568277	0.879000	0.30193	0.576000	0.28549	0.568000	0.35870	1.709000	0.37909	1.004000	0.39156	0.449000	0.29647	GCC		PASS	0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		21	66	21	66	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151105867	151105867	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:151105867C>G	ENST00000341697.3	-	19	3577	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	629					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C629S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCGCGGCGACAAGCACAGGA	0.716																																						uc001ewu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1885-1887)TGT>TCT		semaphorin Y precursor							20.0	23.0	22.0					1																	151105867		2197	4292	6489	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105867C>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1886G>C	1.37:g.151105867C>G	ENSP00000344148:p.Cys629Ser					SEMA6C_uc001ewv.2_Missense_Mutation_p.C661S|SEMA6C_uc001eww.2_Missense_Mutation_p.C621S|SEMA6C_uc010pcq.1_Intron	p.C629S	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	2186	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		629			Cytoplasmic (Potential).		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1886G>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974982	0.74360	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	3.99	3.99	0.46301	.	3.023880	0.01422	N	0.014385	T	0.74366	0.3707	L	0.52905	1.665	0.52501	D	0.999956	D;D;D	0.89917	0.984;1.0;0.973	D;D;D	0.78314	0.974;0.991;0.942	T	0.63143	-0.6703	10	0.72032	D	0.01	.	11.4701	0.50264	0.0:1.0:0.0:0.0	.	621;661;629	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	S	629;621;661;629	ENSP00000357910:C629S;ENSP00000357908:C621S;ENSP00000357909:C661S;ENSP00000344148:C629S	ENSP00000344148:C629S	C	-	2	0	SEMA6C	149372491	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.346000	0.52190	2.047000	0.60756	0.561000	0.74099	TGT		PASS	0.716	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		24	14	24	14	---	---	---	---
LELP1	149018	broad.mit.edu	37	1	153177230	153177230	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:153177230C>G	ENST00000368747.1	+	2	157	c.47C>G	c.(46-48)cCc>cGc	p.P16R		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	16								p.P16R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGACTGAGCCCAAGAACTGC	0.448																																						uc001fbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)CCC>CGC		late cornified envelope-like proline-rich 1							136.0	131.0	133.0					1																	153177230		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177230C>G		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.47C>G	1.37:g.153177230C>G	ENSP00000357736:p.Pro16Arg						p.P16R	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	157	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		16					A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.47C>G	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723792	0.30593	.	.	ENSG00000203784	ENST00000368747	.	.	.	4.72	3.79	0.43588	.	0.848641	0.09611	N	0.778829	T	0.52175	0.1718	.	.	.	0.27573	N	0.949831	D	0.76494	0.999	D	0.72075	0.976	T	0.37911	-0.9685	8	0.56958	D	0.05	-0.1459	9.4171	0.38528	0.0:0.9009:0.0:0.0991	.	16	Q5T871	LELP1_HUMAN	R	16	.	ENSP00000357736:P16R	P	+	2	0	LELP1	151443854	0.373000	0.25073	0.697000	0.30258	0.759000	0.43091	0.281000	0.18810	1.322000	0.45245	0.561000	0.74099	CCC		PASS	0.448	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		151	150	151	150	---	---	---	---
S100A3	6274	broad.mit.edu	37	1	153520929	153520929	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:153520929G>A	ENST00000368713.3	-	2	229	c.33C>T	c.(31-33)gcC>gcT	p.A11A	S100A4_ENST00000354332.4_5'Flank|S100A3_ENST00000368712.1_Silent_p.A11A|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000368716.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	11						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A11A(1)		breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCACACGATGGCAGCTACCG	0.622																																						uc001fca.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GCC>GCT		S100 calcium binding protein A3							135.0	132.0	133.0					1																	153520929		2203	4300	6503	SO:0001819	synonymous_variant	6274						calcium ion binding|protein binding	g.chr1:153520929G>A	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.33C>T	1.37:g.153520929G>A						S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_RNA	p.A11A	NM_002960	NP_002951	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	116	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		11					D3DV51|Q6FGE4	Silent	SNP	ENST00000368713.3	37	c.33C>T	CCDS1043.1																																																																																				PASS	0.622	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		185	179	185	179	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517052	158517052	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:158517052G>T	ENST00000302617.3	-	1	843	c.844C>A	c.(844-846)Ctc>Atc	p.L282I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L282I(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACAGTGTAGAGAACAGATACC	0.453																																						uc010pil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)CTC>ATC		olfactory receptor, family 6, subfamily Y,							209.0	194.0	199.0					1																	158517052		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517052G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.844C>A	1.37:g.158517052G>T	ENSP00000304807:p.Leu282Ile						p.L282I	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	844	-	all_hematologic(112;0.0378)		282			Helical; Name=7; (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.844C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214065	0.22289	.	.	ENSG00000197532	ENST00000302617	T	0.00241	8.46	5.34	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.204774	0.24195	N	0.040666	T	0.00039	0.0001	N	0.10629	0.01	0.26475	N	0.975203	B	0.23442	0.085	B	0.28784	0.094	T	0.19160	-1.0314	10	0.48119	T	0.1	.	5.9266	0.19116	0.1484:0.0:0.5804:0.2712	.	282	Q8NGX8	OR6Y1_HUMAN	I	282	ENSP00000304807:L282I	ENSP00000304807:L282I	L	-	1	0	OR6Y1	156783676	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	0.014000	0.13333	0.805000	0.34159	0.655000	0.94253	CTC		PASS	0.453	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		27	289	27	289	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158590027	158590027	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:158590027C>A	ENST00000368147.4	-	44	6530	c.6350G>T	c.(6349-6351)aGc>aTc	p.S2117I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2117					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S2117I(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTATAAGGGCTGGAAGGCAC	0.507																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6349-6351)AGC>ATC		spectrin, alpha, erythrocytic 1							82.0	82.0	82.0					1																	158590027		1914	4121	6035	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158590027C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6350G>T	1.37:g.158590027C>A	ENSP00000357129:p.Ser2117Ile						p.S2117I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			44	6549	-	all_hematologic(112;0.0378)		2117			Spectrin 20.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6350G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027973	0.75390	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	5.05	5.05	0.67936	.	0.000000	0.37955	N	0.001876	T	0.69806	0.3152	M	0.65975	2.015	0.43489	D	0.995726	D	0.69078	0.997	D	0.70227	0.968	T	0.71523	-0.4567	10	0.44086	T	0.13	.	7.5071	0.27551	0.0:0.8273:0.0:0.1727	.	2117	P02549	SPTA1_HUMAN	I	2117;2114	ENSP00000357130:S2117I;ENSP00000357129:S2114I	ENSP00000357129:S2114I	S	-	2	0	SPTA1	156856651	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.456000	0.66665	2.623000	0.88846	0.585000	0.79938	AGC		PASS	0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		62	178	62	178	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158609675	158609675	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:158609675C>A	ENST00000368147.4	-	34	5040	c.4860G>T	c.(4858-4860)gaG>gaT	p.E1620D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1620					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E1620D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAGCCAGAACTCAAAGTCCC	0.438																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4858-4860)GAG>GAT		spectrin, alpha, erythrocytic 1							184.0	172.0	176.0					1																	158609675		1894	4115	6009	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609675C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4860G>T	1.37:g.158609675C>A	ENSP00000357129:p.Glu1620Asp						p.E1620D	NM_003126	NP_003117	P02549	SPTA1_HUMAN			34	5059	-	all_hematologic(112;0.0378)		1620			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4860G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	5.085	0.201322	0.09652	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54866	0.55;0.55	5.53	-2.26	0.06867	.	0.524395	0.14297	N	0.328535	T	0.09468	0.0233	N	0.25825	0.765	0.36177	D	0.849134	B	0.09022	0.002	B	0.15870	0.014	T	0.28996	-1.0026	10	0.02654	T	1	.	2.0489	0.03567	0.1143:0.2255:0.2238:0.4363	.	1620	P02549	SPTA1_HUMAN	D	1620	ENSP00000357130:E1620D;ENSP00000357129:E1620D	ENSP00000357129:E1620D	E	-	3	2	SPTA1	156876299	0.979000	0.34478	0.975000	0.42487	0.997000	0.91878	0.100000	0.15231	-0.257000	0.09459	0.655000	0.94253	GAG		PASS	0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		76	270	76	270	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158612629	158612629	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:158612629G>T	ENST00000368147.4	-	32	4760	c.4580C>A	c.(4579-4581)tCc>tAc	p.S1527Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1527					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.S1527Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTTGTAGGATTCATCACA	0.443																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4579-4581)TCC>TAC		spectrin, alpha, erythrocytic 1							191.0	182.0	185.0					1																	158612629		1990	4164	6154	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612629G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4580C>A	1.37:g.158612629G>T	ENSP00000357129:p.Ser1527Tyr						p.S1527Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			32	4779	-	all_hematologic(112;0.0378)		1527			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4580C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355986	0.82243	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.2	4.25	0.50352	.	0.000000	0.31936	N	0.006828	T	0.60196	0.2250	M	0.90082	3.085	0.46927	D	0.999254	D	0.89917	1.0	D	0.87578	0.998	T	0.67217	-0.5726	10	0.72032	D	0.01	.	14.0854	0.64951	0.0:0.0:0.8496:0.1504	.	1527	P02549	SPTA1_HUMAN	Y	1527	ENSP00000357130:S1527Y;ENSP00000357129:S1527Y	ENSP00000357129:S1527Y	S	-	2	0	SPTA1	156879253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.711000	0.92665	0.655000	0.94253	TCC		PASS	0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		75	241	75	241	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158906870	158906870	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:158906870C>T	ENST00000368140.1	+	2	415	c.170C>T	c.(169-171)cCa>cTa	p.P57L	PYHIN1_ENST00000392254.2_Missense_Mutation_p.P57L|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P57L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P57L|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P57L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.P57L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAAAGTTCCCAGGTGATGCC	0.348																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(169-171)CCA>CTA		pyrin and HIN domain family, member 1 alpha 1							73.0	75.0	74.0					1																	158906870		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158906870C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.170C>T	1.37:g.158906870C>T	ENSP00000357122:p.Pro57Leu					PYHIN1_uc001fta.3_Missense_Mutation_p.P57L|PYHIN1_uc001ftc.2_Missense_Mutation_p.P57L|PYHIN1_uc001ftd.2_Missense_Mutation_p.P57L|PYHIN1_uc001fte.2_Missense_Mutation_p.P57L	p.P57L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			2	415	+	all_hematologic(112;0.0378)		57			DAPIN.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.170C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774204	0.31411	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	2.83	-5.66	0.02451	Pyrin (2);	.	.	.	.	T	0.37461	0.1004	L	0.60455	1.87	0.09310	N	1	D;D;D;D;P	0.60160	0.983;0.983;0.983;0.987;0.936	D;P;D;D;P	0.66497	0.925;0.908;0.925;0.944;0.723	T	0.45469	-0.9259	9	0.59425	D	0.04	.	6.8662	0.24094	0.3732:0.2358:0.391:0.0	.	57;57;57;57;57	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	L	57	ENSP00000407616:P57L;ENSP00000357122:P57L;ENSP00000357120:P57L;ENSP00000376083:P57L;ENSP00000376082:P57L;ENSP00000357117:P57L	ENSP00000357117:P57L	P	+	2	0	PYHIN1	157173494	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-9.202000	0.00013	-2.148000	0.00798	-0.302000	0.09304	CCA		PASS	0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		89	96	89	96	---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161642908	161642908	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:161642908C>A	ENST00000358671.5	+	4	616	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	FCGR2B_ENST00000403078.3_Missense_Mutation_p.P179T|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P179T|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P172T|FCGR2B_ENST00000367962.4_Missense_Mutation_p.P179T|FCGR2B_ENST00000428605.2_Missense_Mutation_p.P179T|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P172T|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	179	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P179T(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGTTCGGATCCCAACTTCTC	0.493			T	?	ALL																																	uc001gaz.1				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CCC>ACC		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						25.0	26.0	26.0					1																	161642908		2190	4276	6466	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161642908C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.535C>A	1.37:g.161642908C>A	ENSP00000351497:p.Pro179Thr					FCGR2B_uc009wum.1_Missense_Mutation_p.P179T|FCGR2B_uc001gay.1_Missense_Mutation_p.P178T|FCGR2B_uc001gba.1_Missense_Mutation_p.P178T|FCGR2B_uc001gbb.1_Missense_Mutation_p.P179T|FCGR2B_uc009wun.1_Missense_Mutation_p.P172T	p.P179T	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	627	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		179			Ig-like C2-type 2.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.535C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	2.540	-0.306489	0.05458	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.02	-10.0	0.00425	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.762240	0.02661	N	0.107549	T	0.01029	0.0034	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.09377	0.001;0.002;0.004;0.004;0.003;0.004	T	0.21965	-1.0230	10	0.34782	T	0.22	.	1.4501	0.02373	0.459:0.2235:0.1742:0.1433	.	172;179;179;179;179;179	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	T	179;172;179;179;179;172;179;178	ENSP00000356939:P179T;ENSP00000356937:P172T;ENSP00000386038:P179T;ENSP00000404329:P179T;ENSP00000236937:P179T;ENSP00000356938:P172T;ENSP00000351497:P179T	ENSP00000236937:P179T	P	+	1	0	FCGR2B	159909532	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.086000	0.01361	-4.066000	0.00077	-1.615000	0.00797	CCC		PASS	0.493	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		16	77	16	77	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172007553	172007553	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:172007553A>G	ENST00000355305.5	+	7	1101	c.944A>G	c.(943-945)aAa>aGa	p.K315R	DNM3_ENST00000520906.1_Missense_Mutation_p.K315R|DNM3_ENST00000367731.1_Missense_Mutation_p.K315R|DNM3_ENST00000367733.2_Missense_Mutation_p.K315R|DNM3_ENST00000358155.4_Missense_Mutation_p.K315R			Q9UQ16	DYN3_HUMAN	dynamin 3	315					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K315R(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAGCCTACAAAAATTTCAAA	0.418																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(943-945)AAA>AGA		dynamin 3 isoform a							151.0	142.0	145.0					1																	172007553		1836	4090	5926	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172007553A>G	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.944A>G	1.37:g.172007553A>G	ENSP00000347457:p.Lys315Arg					DNM3_uc001gid.3_Missense_Mutation_p.K315R|DNM3_uc009wwb.2_Missense_Mutation_p.K315R|DNM3_uc001gif.2_Missense_Mutation_p.K315R	p.K315R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			7	1120	+			315					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.944A>G		.	.	.	.	.	.	.	.	.	.	A	14.41	2.526279	0.44969	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	6.16	2.64	0.31445	.	0.098559	0.64402	N	0.000002	T	0.63838	0.2545	M	0.67397	2.05	0.46222	D	0.998935	B;B;B;P	0.48694	0.0;0.006;0.001;0.914	B;B;B;P	0.54815	0.005;0.011;0.011;0.761	T	0.61108	-0.7129	10	0.25106	T	0.35	.	9.1025	0.36678	0.7913:0.0:0.2087:0.0	.	315;315;315;315	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	R	315;315;315;315;315;315;205	ENSP00000350876:K315R;ENSP00000356707:K315R;ENSP00000347457:K315R;ENSP00000356705:K315R;ENSP00000429701:K315R;ENSP00000429416:K205R	ENSP00000347457:K315R	K	+	2	0	DNM3	170274176	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	2.470000	0.45119	0.211000	0.20683	0.528000	0.53228	AAA		PASS	0.418	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		156	143	156	143	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176659333	176659333	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:176659333A>G	ENST00000367662.3	+	5	3362	c.2198A>G	c.(2197-2199)cAt>cGt	p.H733R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.H733R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	733	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H733R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCATGATCCATGAAGTGGGA	0.483																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2197-2199)CAT>CGT		pappalysin 2 isoform 1							125.0	120.0	122.0					1																	176659333		2078	4249	6327	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659333A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2198A>G	1.37:g.176659333A>G	ENSP00000356634:p.His733Arg					PAPPA2_uc001gky.1_Missense_Mutation_p.H733R|PAPPA2_uc009www.2_RNA	p.H733R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3362	+			733			Metalloprotease.	Zinc; catalytic (By similarity).	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2198A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820774	0.50633	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;T	0.99894	-7.58;-0.2	5.33	4.21	0.49690	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.97806	4.08	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96623	0.9461	10	0.87932	D	0	-16.2868	10.8092	0.46535	0.9248:0.0:0.0752:0.0	.	733;733	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	R	733	ENSP00000356634:H733R;ENSP00000356633:H733R	ENSP00000356633:H733R	H	+	2	0	PAPPA2	174925956	1.000000	0.71417	0.998000	0.56505	0.144000	0.21451	9.207000	0.95064	0.863000	0.35553	0.460000	0.39030	CAT		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			160	158	160	158	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176671778	176671778	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:176671778T>A	ENST00000367662.3	+	9	4436	c.3272T>A	c.(3271-3273)gTt>gAt	p.V1091D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1091					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1091D(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTACCAAGTTCTAGCTGAA	0.512																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3271-3273)GTT>GAT		pappalysin 2 isoform 1							92.0	89.0	90.0					1																	176671778		1949	4140	6089	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176671778T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3272T>A	1.37:g.176671778T>A	ENSP00000356634:p.Val1091Asp					PAPPA2_uc009www.2_RNA	p.V1091D	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			9	4436	+			1091					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3272T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.440711	0.63067	.	.	ENSG00000116183	ENST00000367662	T	0.56275	0.47	5.26	5.26	0.73747	Fibronectin, type III (2);	0.182276	0.48286	D	0.000196	T	0.72260	0.3438	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.76820	-0.2818	10	0.87932	D	0	-15.3673	14.8267	0.70120	0.0:0.0:0.0:1.0	.	1091	Q9BXP8	PAPP2_HUMAN	D	1091	ENSP00000356634:V1091D	ENSP00000356634:V1091D	V	+	2	0	PAPPA2	174938401	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	7.148000	0.77389	1.978000	0.57642	0.460000	0.39030	GTT		PASS	0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			70	58	70	58	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183942789	183942789	+	Silent	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:183942789C>G	ENST00000361927.4	-	4	959	c.588G>C	c.(586-588)cgG>cgC	p.R196R	COLGALT2_ENST00000546159.1_Silent_p.R196R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	196					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.R196R(1)									AATACAGGCCCCGAGACTCCA	0.438																																						uc001gqr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(586-588)CGG>CGC		glycosyltransferase 25 domain containing 2							103.0	118.0	113.0					1																	183942789		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183942789C>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.588G>C	1.37:g.183942789C>G						GLT25D2_uc010poj.1_Silent_p.R196R|GLT25D2_uc001gqs.2_Silent_p.R76R	p.R196R	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			4	960	-			196					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.588G>C	CCDS1360.1																																																																																				PASS	0.438	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		49	344	49	344	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184859326	184859326	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:184859326G>T	ENST00000367511.3	-	4	542	c.349C>A	c.(349-351)Cga>Aga	p.R117R		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	117					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R117R(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAAGAATTCGACATTTAGGA	0.448																																						uc001gra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(349-351)CGA>AGA		niban protein isoform 2							77.0	78.0	77.0					1																	184859326		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184859326G>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.349C>A	1.37:g.184859326G>T						FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	p.R117R	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			4	543	-			117					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.349C>A	CCDS1364.1																																																																																				PASS	0.448	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			28	85	28	85	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196448338	196448338	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:196448338T>A	ENST00000294725.9	-	5	1270	c.355A>T	c.(355-357)Aca>Tca	p.T119S	KCNT2_ENST00000609185.1_Missense_Mutation_p.T119S|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T119S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T119S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	119					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T119S(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTAATATTGTTTCAAACAGA	0.284																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(355-357)ACA>TCA		potassium channel, subfamily T, member 2							52.0	53.0	53.0					1																	196448338		2201	4298	6499	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196448338T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.355A>T	1.37:g.196448338T>A	ENSP00000294725:p.Thr119Ser					KCNT2_uc001gte.1_Missense_Mutation_p.T119S|KCNT2_uc001gtf.1_Missense_Mutation_p.T119S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T119S|KCNT2_uc009wyv.1_Missense_Mutation_p.T119S	p.T119S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			5	415	-			119			Helical; Name=Segment S2; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.355A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426636	0.43020	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19532	2.14;2.17;2.4	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000002	T	0.23054	0.0557	L	0.60845	1.875	0.80722	D	1	B;B;B;B	0.23591	0.053;0.088;0.041;0.053	B;B;B;B	0.28139	0.065;0.086;0.053;0.065	T	0.03608	-1.1020	10	0.21540	T	0.41	-17.351	13.0716	0.59064	0.0:0.0:0.0:1.0	.	119;119;119;119	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	S	119	ENSP00000356403:T119S;ENSP00000356401:T119S;ENSP00000294725:T119S	ENSP00000294725:T119S	T	-	1	0	KCNT2	194714961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.350000	0.66016	2.251000	0.74343	0.482000	0.46254	ACA		PASS	0.284	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		13	126	13	126	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197030958	197030959	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:197030958_197030959AG>TA	ENST00000367412.1	-	3	449_450	c.406_407CT>TA	c.(406-408)CTc>TAc	p.L136Y		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	136	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.L136F(1)|p.L136Y(1)|p.L136H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCCATCAGAGAGACATTGAACC	0.371																																						uc001gtt.1																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(406-408)CTC>CAC|c.(406-408)CTC>TTC		coagulation factor XIII B subunit precursor																																				SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030958A>T|g.chr1:197030959G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.406_407delinsTA	1.37:g.197030958_197030959delinsTA	ENSP00000356382:p.Leu136Tyr						p.L136H|p.L136F	NM_001994	NP_001985	P05160	F13B_HUMAN			3	451|450	-			136			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.407T>A|c.406C>T	CCDS1388.1																																																																																				PASS	0.371	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		33	128|131	33	128	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390734	197390734	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:197390734C>G	ENST00000367400.3	+	6	1911	c.1776C>G	c.(1774-1776)atC>atG	p.I592M	CRB1_ENST00000544212.1_Missense_Mutation_p.I73M|CRB1_ENST00000367399.2_Missense_Mutation_p.I480M|CRB1_ENST00000535699.1_Missense_Mutation_p.I523M|CRB1_ENST00000538660.1_Missense_Mutation_p.I592M|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	592	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I592M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAAATGCATCGCGAAAGCTC	0.468																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1774-1776)ATC>ATG		crumbs homolog 1 precursor							119.0	113.0	115.0					1																	197390734		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390734C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1776C>G	1.37:g.197390734C>G	ENSP00000356370:p.Ile592Met					CRB1_uc010poz.1_Missense_Mutation_p.I523M|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.I480M|CRB1_uc010ppb.1_Missense_Mutation_p.I592M|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.I73M|CRB1_uc001gub.1_Missense_Mutation_p.I241M	p.I592M	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1911	+			592			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1776C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192811	0.21954	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.84	0.687	0.18020	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79131	0.4394	L	0.46157	1.445	0.09310	N	1	D;D;D;B;D	0.63046	0.992;0.973;0.971;0.247;0.98	D;P;P;B;P	0.63033	0.91;0.799;0.785;0.04;0.809	T	0.65651	-0.6116	9	0.42905	T	0.14	.	5.7653	0.18224	0.0:0.5065:0.2365:0.257	.	592;523;480;241;592	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	M	523;592;592;480;73;241	ENSP00000438786:I523M;ENSP00000438091:I592M;ENSP00000356370:I592M;ENSP00000356369:I480M;ENSP00000444556:I73M	ENSP00000356369:I480M	I	+	3	3	CRB1	195657357	0.018000	0.18449	0.000000	0.03702	0.005000	0.04900	0.871000	0.28023	-0.108000	0.12066	0.557000	0.71058	ATC		PASS	0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		60	206	60	206	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197407761	197407761	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:197407761G>T	ENST00000367400.3	+	10	3969	c.3834G>T	c.(3832-3834)caG>caT	p.Q1278H	CRB1_ENST00000544212.1_Missense_Mutation_p.Q759H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1166H|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1254H|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Missense_Mutation_p.Q742H|CRB1_ENST00000367397.1_Missense_Mutation_p.Q659H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1278	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1278H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGAGTTCCAGACTGAATTAA	0.433																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3832-3834)CAG>CAT		crumbs homolog 1 precursor							97.0	98.0	97.0					1																	197407761		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197407761G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3834G>T	1.37:g.197407761G>T	ENSP00000356370:p.Gln1278His					CRB1_uc010poz.1_Missense_Mutation_p.Q1254H|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q1166H|CRB1_uc010ppb.1_Missense_Mutation_p.Q742H|CRB1_uc010ppd.1_Missense_Mutation_p.Q759H|CRB1_uc001gub.1_Missense_Mutation_p.Q927H	p.Q1278H	NM_201253	NP_957705	P82279	CRUM1_HUMAN			10	3969	+			1278			Extracellular (Potential).|EGF-like 18.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3834G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	3.302	-0.142723	0.06669	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.09	5.87	1.8	0.24995	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.77164	0.4090	L	0.47078	1.49	0.09310	N	1	B;B;B;B;B	0.16166	0.009;0.016;0.01;0.007;0.005	B;B;B;B;B	0.14023	0.007;0.01;0.006;0.01;0.005	T	0.57201	-0.7852	9	0.14656	T	0.56	.	0.9989	0.01473	0.2544:0.302:0.2896:0.154	.	742;1254;1166;927;1278	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	H	1254;742;1278;1166;759;659;927	ENSP00000438786:Q1254H;ENSP00000438091:Q742H;ENSP00000356370:Q1278H;ENSP00000356369:Q1166H;ENSP00000444556:Q759H;ENSP00000356367:Q659H	ENSP00000356367:Q659H	Q	+	3	2	CRB1	195674384	0.000000	0.05858	0.016000	0.15963	0.047000	0.14425	-0.250000	0.08830	0.443000	0.26582	0.655000	0.94253	CAG		PASS	0.433	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		86	102	86	102	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216219889	216219889	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:216219889G>T	ENST00000307340.3	-	32	6595	c.6209C>A	c.(6208-6210)tCt>tAt	p.S2070Y	USH2A_ENST00000366943.2_Missense_Mutation_p.S2070Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2070	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2070Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAGCAAAGAACTGGGAAG	0.423										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6208-6210)TCT>TAT		usherin isoform B							94.0	86.0	89.0					1																	216219889		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219889G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6209C>A	1.37:g.216219889G>T	ENSP00000305941:p.Ser2070Tyr	HNSCC(13;0.011)					p.S2070Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6596	-			2070			Extracellular (Potential).|Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6209C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582449	0.65992	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59772	0.24;0.24	5.26	5.26	0.73747	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.168847	0.27927	N	0.017289	T	0.75547	0.3864	M	0.92026	3.265	0.41343	D	0.987316	D	0.61080	0.989	P	0.55087	0.768	T	0.81398	-0.0951	10	0.62326	D	0.03	.	13.56	0.61784	0.0778:0.0:0.9222:0.0	.	2070	O75445	USH2A_HUMAN	Y	2070	ENSP00000305941:S2070Y;ENSP00000355910:S2070Y	ENSP00000305941:S2070Y	S	-	2	0	USH2A	214286512	1.000000	0.71417	0.813000	0.32504	0.900000	0.52787	1.589000	0.36644	2.615000	0.88500	0.655000	0.94253	TCT		PASS	0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		67	86	67	86	---	---	---	---
PSEN2	5664	broad.mit.edu	37	1	227079483	227079483	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:227079483C>T	ENST00000366783.3	+	11	1446	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	PSEN2_ENST00000366782.1_Missense_Mutation_p.P370L|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000422240.2_Missense_Mutation_p.P336L|PSEN2_ENST00000391872.2_Missense_Mutation_p.P370L|PSEN2_ENST00000472139.2_Missense_Mutation_p.P193L|PSEN2_ENST00000340188.4_Missense_Mutation_p.P304L	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	337					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.P337L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCTTCATACCCCGAAGTCTTT	0.552																																						uc009xeo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1009-1011)CCC>CTC		presenilin 2 isoform 1							91.0	88.0	89.0					1																	227079483		2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227079483C>T	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1010C>T	1.37:g.227079483C>T	ENSP00000355747:p.Pro337Leu					PSEN2_uc009xep.1_Missense_Mutation_p.P336L|PSEN2_uc001hqk.2_RNA	p.P337L	NM_000447	NP_000438	P49810	PSN2_HUMAN			11	1437	+		Prostate(94;0.0771)	337			Cytoplasmic (Potential).		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.1010C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	7.642	0.681023	0.14907	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D	0.99741	-6.58;-6.37;-6.58;-6.6;-6.6;-6.27	4.81	4.81	0.61882	.	0.708595	0.14616	N	0.308722	D	0.98651	0.9548	L	0.47716	1.5	0.30237	N	0.79539	B;B	0.23316	0.083;0.015	B;B	0.23018	0.043;0.035	D	0.99953	1.1585	10	0.22706	T	0.39	.	13.2578	0.60089	0.0:1.0:0.0:0.0	.	336;337	A8K8D4;P49810	.;PSN2_HUMAN	L	337;304;336;370;370;193	ENSP00000355747:P337L;ENSP00000339860:P304L;ENSP00000403737:P336L;ENSP00000355746:P370L;ENSP00000375745:P370L;ENSP00000427806:P193L	ENSP00000339860:P304L	P	+	2	0	PSEN2	225146106	0.932000	0.31603	0.493000	0.27502	0.200000	0.23975	2.376000	0.44292	2.493000	0.84123	0.655000	0.94253	CCC		PASS	0.552	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		44	102	44	102	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237550610	237550610	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:237550610C>T	ENST00000366574.2	+	9	923	c.606C>T	c.(604-606)caC>caT	p.H202H	RYR2_ENST00000360064.6_Silent_p.H200H|RYR2_ENST00000542537.1_Silent_p.H186H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	202	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H200H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAGCTTACACGTGGATGCCG	0.512																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(604-606)CAC>CAT		cardiac muscle ryanodine receptor							111.0	114.0	113.0					1																	237550610		1998	4173	6171	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237550610C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.606C>T	1.37:g.237550610C>T							p.H202H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		9	726	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	202			Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.606C>T	CCDS55691.1																																																																																				PASS	0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		35	123	35	123	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237604660	237604660	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:237604660G>C	ENST00000366574.2	+	13	1364	c.1047G>C	c.(1045-1047)atG>atC	p.M349I	RYR2_ENST00000360064.6_Missense_Mutation_p.M347I|RYR2_ENST00000542537.1_Missense_Mutation_p.M333I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	349					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.M347I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGATGGCATGGGAACATCTG	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1045-1047)ATG>ATC		cardiac muscle ryanodine receptor							156.0	151.0	153.0					1																	237604660		1878	4115	5993	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604660G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1047G>C	1.37:g.237604660G>C	ENSP00000355533:p.Met349Ile						p.M349I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1167	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	349			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1047G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130299	0.77549	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87412	-2.25;-2.25;-2.25	5.39	5.39	0.77823	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.85771	0.5774	L	0.52573	1.65	0.80722	D	1	B	0.30634	0.288	B	0.34038	0.174	T	0.82493	-0.0430	10	0.31617	T	0.26	.	19.5142	0.95155	0.0:0.0:1.0:0.0	.	349	Q92736	RYR2_HUMAN	I	349;347;333	ENSP00000355533:M349I;ENSP00000353174:M347I;ENSP00000443798:M333I	ENSP00000353174:M347I	M	+	3	0	RYR2	235671283	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.800000	0.99124	2.679000	0.91253	0.655000	0.94253	ATG		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		46	121	46	121	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237804280	237804280	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:237804280G>T	ENST00000366574.2	+	47	7516	c.7199G>T	c.(7198-7200)gGa>gTa	p.G2400V	RYR2_ENST00000360064.6_Missense_Mutation_p.G2398V|RYR2_ENST00000542537.1_Missense_Mutation_p.G2384V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2400	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2398V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCTCTTGGGACGCTGTGCT	0.453																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7198-7200)GGA>GTA		cardiac muscle ryanodine receptor							157.0	153.0	154.0					1																	237804280		2080	4238	6318	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237804280G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7199G>T	1.37:g.237804280G>T	ENSP00000355533:p.Gly2400Val						p.G2400V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		47	7319	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2400			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7199G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484651	0.84854	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99671	-6.35;-6.35;-6.35	5.6	4.66	0.58398	.	0.000000	0.64402	D	0.000007	D	0.99609	0.9858	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97801	1.0244	10	0.87932	D	0	-18.3483	15.949	0.79817	0.0:0.0:0.8639:0.1361	.	2400	Q92736	RYR2_HUMAN	V	2400;2398;2384	ENSP00000355533:G2400V;ENSP00000353174:G2398V;ENSP00000443798:G2384V	ENSP00000353174:G2398V	G	+	2	0	RYR2	235870903	1.000000	0.71417	0.632000	0.29296	0.951000	0.60555	9.738000	0.98835	1.455000	0.47813	0.591000	0.81541	GGA		PASS	0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	31	20	31	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237872795	237872795	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:237872795G>C	ENST00000366574.2	+	70	10475	c.10158G>C	c.(10156-10158)aaG>aaC	p.K3386N	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.K3384N|RYR2_ENST00000542537.1_Missense_Mutation_p.K3370N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3386					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K3384N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGGCTAAAGGAGCCTAACC	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10156-10158)AAG>AAC		cardiac muscle ryanodine receptor							81.0	79.0	80.0					1																	237872795		1917	4124	6041	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872795G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10158G>C	1.37:g.237872795G>C	ENSP00000355533:p.Lys3386Asn					RYR2_uc010pxz.1_Missense_Mutation_p.K341N	p.K3386N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		70	10278	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3386					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10158G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513894	0.64522	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97529	-4.42;-4.39;-4.41	5.5	2.28	0.28536	.	0.084273	0.46758	D	0.000270	D	0.94951	0.8367	M	0.75777	2.31	0.80722	D	1	P	0.44627	0.839	B	0.41813	0.367	D	0.91750	0.5411	10	0.87932	D	0	-17.1533	3.3232	0.07058	0.3631:0.0:0.4294:0.2075	.	3386	Q92736	RYR2_HUMAN	N	3386;3384;3370;341	ENSP00000355533:K3386N;ENSP00000353174:K3384N;ENSP00000443798:K3370N	ENSP00000353174:K3384N	K	+	3	2	RYR2	235939418	0.992000	0.36948	0.979000	0.43373	0.934000	0.57294	0.314000	0.19432	0.544000	0.28883	0.655000	0.94253	AAG		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	37	15	37	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240966240	240966240	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:240966240G>T	ENST00000407727.1	-	15	1322	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S	RGS7_ENST00000366563.1_Silent_p.S441S|RGS7_ENST00000366565.1_Silent_p.S441S|RGS7_ENST00000446183.2_Silent_p.S357S|RGS7_ENST00000366564.1_Silent_p.S441S|RGS7_ENST00000331110.7_Silent_p.S415S|RGS7_ENST00000366562.4_Silent_p.S441S|RGS7_ENST00000348120.2_Silent_p.S388S|RGS7_ENST00000401882.1_Silent_p.S388S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	441	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.S441S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GATAGGCACTGGATCTTATAA	0.348																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1321-1323)TCC>TCA		regulator of G-protein signaling 7							142.0	151.0	148.0					1																	240966240		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966240G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1323C>A	1.37:g.240966240G>T						RGS7_uc010pyh.1_Silent_p.S415S|RGS7_uc010pyj.1_Silent_p.S357S|RGS7_uc001hyu.2_Silent_p.S441S|RGS7_uc009xgn.1_Silent_p.S388S|RGS7_uc001hyw.2_Silent_p.S441S|RGS7_uc001hyt.2_Silent_p.S273S	p.S441S	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1653	-		all_cancers(173;0.0131)	441			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.1323C>A																																																																																					PASS	0.348	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		78	208	78	208	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241929537	241929537	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:241929537A>G	ENST00000366552.2	+	15	2142	c.1935A>G	c.(1933-1935)ttA>ttG	p.L645L	WDR64_ENST00000437684.2_Silent_p.L645L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	645								p.L645L(1)|p.L365L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCATGGATTTATTACGAGTGA	0.368																																						uc001hzf.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1093-1095)TTA>TTG		WD repeat domain 64							127.0	124.0	125.0					1																	241929537		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241929537A>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1935A>G	1.37:g.241929537A>G						WDR64_uc001hzg.1_Silent_p.L111L	p.L365L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		10	1248	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	645			WD 9.		B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1095A>G		.	.	.	.	.	.	.	.	.	.	A	0.734	-0.778741	0.02929	.	.	ENSG00000162843	ENST00000425826	.	.	.	0.418	0.418	0.16429	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26467	-1.0102	3	.	.	.	.	.	.	.	.	.	.	.	C	124	.	.	Y	+	2	0	WDR64	239996160	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.263000	0.08670	0.383000	0.24910	0.377000	0.23210	TAT		PASS	0.368	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		69	108	69	108	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004961	248004961	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248004961G>A	ENST00000355784.2	-	1	293	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	80						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L80F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTAGGAGAAGGGGCACAGTG	0.592																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(238-240)CTT>TTT		olfactory receptor, family 11, subfamily L,							73.0	62.0	66.0					1																	248004961		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004961G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.238C>T	1.37:g.248004961G>A	ENSP00000348033:p.Leu80Phe						p.L80F	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	238	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		80			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.238C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073124	0.36566	.	.	ENSG00000197591	ENST00000355784	T	0.00402	7.56	4.2	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32430	U	0.006104	T	0.00328	0.0010	L	0.39514	1.22	0.23192	N	0.998145	B	0.33044	0.395	B	0.35182	0.197	T	0.45454	-0.9260	10	0.87932	D	0	.	5.753	0.18158	0.0995:0.0:0.581:0.3196	.	80	Q8NGX0	O11L1_HUMAN	F	80	ENSP00000348033:L80F	ENSP00000348033:L80F	L	-	1	0	OR11L1	246071584	0.138000	0.22547	0.846000	0.33378	0.940000	0.58332	1.272000	0.33109	1.108000	0.41662	0.543000	0.68304	CTT		PASS	0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		23	36	23	36	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248005047	248005047	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248005047T>G	ENST00000355784.2	-	1	207	c.152A>C	c.(151-153)cAg>cCg	p.Q51P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	51						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q51P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGCAGGCCCTGGCTCACCAC	0.532																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(151-153)CAG>CCG		olfactory receptor, family 11, subfamily L,							73.0	64.0	67.0					1																	248005047		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005047T>G	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.152A>C	1.37:g.248005047T>G	ENSP00000348033:p.Gln51Pro						p.Q51P	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	152	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		51			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.152A>C	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	T	1.784	-0.481270	0.04383	.	.	ENSG00000197591	ENST00000355784	T	0.02974	4.09	4.2	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.746176	0.10915	U	0.620196	T	0.02156	0.0067	N	0.19112	0.55	0.09310	N	1	B	0.33755	0.424	B	0.33042	0.157	T	0.48352	-0.9043	10	0.35671	T	0.21	.	3.9501	0.09366	0.1576:0.1796:0.0:0.6628	.	51	Q8NGX0	O11L1_HUMAN	P	51	ENSP00000348033:Q51P	ENSP00000348033:Q51P	Q	-	2	0	OR11L1	246071670	0.000000	0.05858	0.046000	0.18839	0.067000	0.16453	-0.579000	0.05834	0.773000	0.33404	0.443000	0.29094	CAG		PASS	0.532	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		16	51	16	51	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248023976	248023976	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248023976C>A	ENST00000366481.3	+	2	526	c.478C>A	c.(478-480)Cag>Aag	p.Q160K		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	160						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q160K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCTTGACTCAGGAGGCCAA	0.488																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(478-480)CAG>AAG		tripartite motif-containing 58							107.0	105.0	105.0					1																	248023976		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023976C>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.478C>A	1.37:g.248023976C>A	ENSP00000355437:p.Gln160Lys						p.Q160K	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	526	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	160					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.478C>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260598	0.23051	.	.	ENSG00000162722	ENST00000366481	T	0.60672	0.17	4.02	4.02	0.46733	.	0.306996	0.22986	N	0.053244	T	0.53722	0.1814	M	0.61703	1.905	0.28326	N	0.922002	B	0.06786	0.001	B	0.08055	0.003	T	0.55075	-0.8197	10	0.59425	D	0.04	.	11.8893	0.52620	0.0:1.0:0.0:0.0	.	160	Q8NG06	TRI58_HUMAN	K	160	ENSP00000355437:Q160K	ENSP00000355437:Q160K	Q	+	1	0	TRIM58	246090599	0.931000	0.31567	0.918000	0.36340	0.059000	0.15707	2.271000	0.43364	2.234000	0.73211	0.655000	0.94253	CAG		PASS	0.488	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		34	45	34	45	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085122	248085122	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248085122A>T	ENST00000319968.4	+	1	803	c.803A>T	c.(802-804)cAc>cTc	p.H268L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H268L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCACTAACCACGACAAGGTT	0.493																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)CAC>CTC		olfactory receptor, family 2, subfamily T,							107.0	98.0	101.0					1																	248085122		2203	4298	6501	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085122A>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.803A>T	1.37:g.248085122A>T	ENSP00000326225:p.His268Leu						p.H268L	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	803	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	268			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.803A>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	A	8.170	0.791405	0.16258	.	.	ENSG00000177462	ENST00000319968	T	0.00021	9.03	3.37	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	1.995470	0.03358	U	0.197170	T	0.00073	0.0002	N	0.04746	-0.17	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.23868	-1.0176	10	0.56958	D	0.05	.	3.9009	0.09161	0.5516:0.1796:0.0:0.2688	.	268	A6NH00	OR2T8_HUMAN	L	268	ENSP00000326225:H268L	ENSP00000326225:H268L	H	+	2	0	OR2T8	246151745	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.451000	0.06795	1.396000	0.46663	0.332000	0.21555	CAC		PASS	0.493	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		97	142	97	142	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112396	248112396	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248112396G>T	ENST00000357191.3	+	1	237	c.237G>T	c.(235-237)aaG>aaT	p.K79N	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K79N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGTTCCTAAGATGGCATCTG	0.448																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)AAG>AAT		olfactory receptor, family 2, subfamily L,							301.0	266.0	278.0					1																	248112396		2203	4297	6500	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112396G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.237G>T	1.37:g.248112396G>T	ENSP00000349719:p.Lys79Asn					OR2L13_uc001ids.2_Intron	p.K79N	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	237	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		79			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.237G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126657	0.20959	.	.	ENSG00000196936	ENST00000357191	T	0.04862	3.54	1.64	-0.643	0.11482	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33180	U	0.005181	T	0.06325	0.0163	L	0.58510	1.815	0.24470	N	0.994396	B	0.23854	0.092	B	0.27262	0.078	T	0.27839	-1.0062	10	0.87932	D	0	.	2.9186	0.05761	0.4222:0.0:0.3766:0.2011	.	79	Q8NGY9	OR2L8_HUMAN	N	79	ENSP00000349719:K79N	ENSP00000349719:K79N	K	+	3	2	OR2L8	246179019	0.000000	0.05858	0.573000	0.28510	0.283000	0.27025	-0.658000	0.05329	-0.120000	0.11809	0.479000	0.44913	AAG		PASS	0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			9	645	9	645	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685795	248685795	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr1:248685795C>A	ENST00000343414.4	+	1	880	c.848C>A	c.(847-849)cCa>cAa	p.P283Q		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283Q(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)			ATAGTCACCCCACTTTTAAAC	0.438																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(847-849)CCA>CAA		olfactory receptor, family 2, subfamily G,							78.0	81.0	80.0					1																	248685795		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685795C>A		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.848C>A	1.37:g.248685795C>A	ENSP00000341291:p.Pro283Gln						p.P283Q	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	848	+	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)	283			Helical; Name=7; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.848C>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.92	2.081484	0.36758	.	.	ENSG00000188558	ENST00000343414	T	0.00344	8.02	3.83	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	U	0.000486	T	0.01124	0.0037	H	0.95745	3.715	0.19300	N	0.999973	D	0.89917	1.0	D	0.81914	0.995	T	0.14587	-1.0467	10	0.87932	D	0	.	10.5602	0.45142	0.0:0.901:0.0:0.099	.	283	Q5TZ20	OR2G6_HUMAN	Q	283	ENSP00000341291:P283Q	ENSP00000341291:P283Q	P	+	2	0	OR2G6	246752418	0.748000	0.28294	0.011000	0.14972	0.401000	0.30781	2.789000	0.47813	0.822000	0.34565	-0.528000	0.04320	CCA		PASS	0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		56	117	56	117	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112791	18112791	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:18112791G>T	ENST00000403915.1	+	3	967	c.516G>T	c.(514-516)tgG>tgT	p.W172C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.W172C	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	172					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.W172C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGAAAATCTGGATTAGAATGG	0.507																																						uc002rcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(514-516)TGG>TGT		potassium voltage-gated channel							60.0	65.0	63.0					2																	18112791		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112791G>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.516G>T	2.37:g.18112791G>T	ENSP00000385968:p.Trp172Cys					KCNS3_uc002rcw.2_Missense_Mutation_p.W172C	p.W172C	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	967	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		172			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.516G>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535767	0.45176	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98249	-4.82;-4.82	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	M	0.90595	3.13	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99391	1.0925	10	0.87932	D	0	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	172	Q9BQ31	KCNS3_HUMAN	C	172	ENSP00000385968:W172C;ENSP00000305824:W172C	ENSP00000305824:W172C	W	+	3	0	KCNS3	17976272	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	TGG		PASS	0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		27	50	27	50	---	---	---	---
APOB	338	broad.mit.edu	37	2	21230128	21230128	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:21230128A>T	ENST00000233242.1	-	26	9739	c.9612T>A	c.(9610-9612)ttT>ttA	p.F3204L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3204	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.F3204L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCCTGTCAAAGGATTTGA	0.318																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9610-9612)TTT>TTA		apolipoprotein B precursor	Atorvastatin(DB01076)						51.0	52.0	51.0					2																	21230128		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230128A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9612T>A	2.37:g.21230128A>T	ENSP00000233242:p.Phe3204Leu						p.F3204L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9740	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3204			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9612T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	3.722	-0.057443	0.07317	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35605	1.3	5.15	0.688	0.18027	.	0.543405	0.17061	N	0.188573	T	0.21427	0.0516	L	0.33293	1	0.25389	N	0.988541	B	0.23735	0.09	B	0.27887	0.084	T	0.26815	-1.0092	10	0.12430	T	0.62	.	5.4045	0.16314	0.2747:0.3442:0.3811:0.0	.	3204	P04114	APOB_HUMAN	L	3204	ENSP00000233242:F3204L	ENSP00000233242:F3204L	F	-	3	2	APOB	21083633	0.019000	0.18553	0.008000	0.14137	0.043000	0.13939	0.139000	0.16036	0.101000	0.17610	0.460000	0.39030	TTT		PASS	0.318	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	106	23	106	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24930139	24930139	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:24930139C>G	ENST00000406961.1	+	13	2452	c.1800C>G	c.(1798-1800)aaC>aaG	p.N600K	NCOA1_ENST00000405141.1_Missense_Mutation_p.N600K|NCOA1_ENST00000348332.3_Missense_Mutation_p.N600K|NCOA1_ENST00000407230.1_Missense_Mutation_p.N449K|NCOA1_ENST00000538539.1_Missense_Mutation_p.N600K|NCOA1_ENST00000288599.5_Missense_Mutation_p.N600K|NCOA1_ENST00000395856.3_Missense_Mutation_p.N600K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	600	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.N600K(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCTGACAACAGCTCTAGTG	0.378			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1798-1800)AAC>AAG		nuclear receptor coactivator 1 isoform 1							55.0	54.0	54.0					2																	24930139		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24930139C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1800C>G	2.37:g.24930139C>G	ENSP00000385216:p.Asn600Lys					NCOA1_uc010eye.2_Missense_Mutation_p.N600K|NCOA1_uc002rfi.2_Missense_Mutation_p.N449K|NCOA1_uc002rfj.2_Missense_Mutation_p.N600K|NCOA1_uc002rfl.2_Missense_Mutation_p.N600K	p.N600K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	2058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		600			Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1800C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	7.851	0.724092	0.15439	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01887	4.7;4.7;4.58;4.7;4.7;4.7;4.7	5.95	5.07	0.68467	.	0.457213	0.26923	N	0.021803	T	0.01353	0.0044	N	0.08118	0	0.30012	N	0.815061	B;P;B;B	0.34462	0.358;0.454;0.358;0.231	B;B;B;B	0.28011	0.085;0.038;0.085;0.054	T	0.49021	-0.8982	10	0.28530	T	0.3	.	10.8344	0.46679	0.0:0.8571:0.0:0.1429	.	600;600;600;449	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	K	600;600;449;600;600;600;600	ENSP00000385216:N600K;ENSP00000385097:N600K;ENSP00000385195:N449K;ENSP00000444039:N600K;ENSP00000320940:N600K;ENSP00000288599:N600K;ENSP00000379197:N600K	ENSP00000288599:N600K	N	+	3	2	NCOA1	24783643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.487000	0.35540	2.824000	0.97209	0.655000	0.94253	AAC		PASS	0.378	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		38	90	38	90	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24974895	24974895	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:24974895C>A	ENST00000406961.1	+	20	4403	c.3751C>A	c.(3751-3753)Cct>Act	p.P1251T	NCOA1_ENST00000405141.1_Missense_Mutation_p.P1251T|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1251T|NCOA1_ENST00000407230.1_Missense_Mutation_p.P1100T|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1251T|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1251T|NCOA1_ENST00000395856.3_Missense_Mutation_p.P1251T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1251					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.P1251T(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCTAAGCCCTGGGAGCTC	0.473			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(3751-3753)CCT>ACT		nuclear receptor coactivator 1 isoform 1							83.0	75.0	78.0					2																	24974895		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24974895C>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3751C>A	2.37:g.24974895C>A	ENSP00000385216:p.Pro1251Thr					NCOA1_uc010eye.2_Missense_Mutation_p.P1251T|NCOA1_uc002rfi.2_Missense_Mutation_p.P1100T|NCOA1_uc002rfj.2_Missense_Mutation_p.P1251T|NCOA1_uc002rfl.2_Missense_Mutation_p.P1251T|NCOA1_uc010eyf.2_Missense_Mutation_p.P144T	p.P1251T	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			18	4009	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1251					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.3751C>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567419	0.86439	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.28	5.28	0.74379	Domain of unknown function DUF1518 (1);	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	N	0.08118	0	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	0.91635	0.999;0.996;0.999;0.996;0.998	T	0.57499	-0.7801	10	0.56958	D	0.05	.	18.6754	0.91526	0.0:1.0:0.0:0.0	.	1251;1251;1251;1251;1100	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	T	1251;1251;1100;1251;1251;1251;1251	ENSP00000385216:P1251T;ENSP00000385097:P1251T;ENSP00000385195:P1100T;ENSP00000444039:P1251T;ENSP00000320940:P1251T;ENSP00000288599:P1251T;ENSP00000379197:P1251T	ENSP00000288599:P1251T	P	+	1	0	NCOA1	24828399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.537000	0.73847	2.740000	0.93945	0.585000	0.79938	CCT		PASS	0.473	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		57	123	57	123	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29222153	29222153	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:29222153G>C	ENST00000379558.4	+	4	597	c.246G>C	c.(244-246)aaG>aaC	p.K82N	FAM179A_ENST00000403861.2_Missense_Mutation_p.K82N	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	82								p.K82N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCTTCCAAGGGCTGGCAGG	0.632																																						uc010ezl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(244-246)AAG>AAC		hypothetical protein LOC165186							37.0	42.0	40.0					2																	29222153		2177	4272	6449	SO:0001583	missense	165186						binding	g.chr2:29222153G>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.246G>C	2.37:g.29222153G>C	ENSP00000368876:p.Lys82Asn					FAM179A_uc010ymm.1_Missense_Mutation_p.K82N	p.K82N	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			4	597	+			82					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.246G>C	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332270	0.41297	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14144	2.76;2.53	5.73	2.41	0.29592	.	.	.	.	.	T	0.17534	0.0421	L	0.29908	0.895	0.23542	N	0.997459	D;D	0.64830	0.964;0.994	P;P	0.57911	0.745;0.829	T	0.11792	-1.0573	8	.	.	.	.	7.4595	0.27287	0.3353:0.0:0.6647:0.0	.	82;82	F8W8E4;Q6ZUX3	.;F179A_HUMAN	N	82	ENSP00000368876:K82N;ENSP00000384699:K82N	.	K	+	3	2	FAM179A	29075657	0.804000	0.28969	0.885000	0.34714	0.049000	0.14656	0.741000	0.26202	0.532000	0.28657	-0.362000	0.07510	AAG		PASS	0.632	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		11	34	11	34	---	---	---	---
ALK	238	broad.mit.edu	37	2	29754882	29754882	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:29754882C>A	ENST00000389048.3	-	4	1959	c.1053G>T	c.(1051-1053)gtG>gtT	p.V351V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	351	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V351V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGTGCCTGTGCACCGAGACGG	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1051-1053)GTG>GTT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						119.0	106.0	110.0					2																	29754882		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29754882C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1053G>T	2.37:g.29754882C>A							p.V351V	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			4	1960	-	Acute lymphoblastic leukemia(172;0.155)		351			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1053G>T	CCDS33172.1																																																																																				PASS	0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		52	94	52	94	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656957	40656957	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:40656957T>C	ENST00000403092.1	-	2	497	c.464A>G	c.(463-465)gAa>gGa	p.E155G	SLC8A1_ENST00000332839.4_Missense_Mutation_p.E155G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E155G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E155G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E155G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E155G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E155G|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E155G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E155G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E155G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	155					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E155G(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCCACACACTTCAATTACTGA	0.458																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(463-465)GAA>GGA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						128.0	115.0	119.0					2																	40656957		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656957T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.464A>G	2.37:g.40656957T>C	ENSP00000384763:p.Glu155Gly					SLC8A1_uc002rry.2_Missense_Mutation_p.E155G|SLC8A1_uc002rrz.2_Missense_Mutation_p.E155G|SLC8A1_uc002rsa.2_Missense_Mutation_p.E155G|SLC8A1_uc002rsd.3_Missense_Mutation_p.E155G|SLC8A1_uc002rsb.1_Missense_Mutation_p.E155G|SLC8A1_uc010fan.1_Missense_Mutation_p.E155G|SLC8A1_uc002rsc.1_Missense_Mutation_p.E155G	p.E155G	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	488	-			155			Helical; (Potential).|Alpha-1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.464A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.728853	0.69074	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;1.0;1.0	T	0.75280	-0.3373	10	0.87932	D	0	.	13.7389	0.62836	0.0:0.0:0.0:1.0	.	155;155;155;155;155	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	G	155	ENSP00000383886:E155G;ENSP00000440727:E155G;ENSP00000384763:E155G;ENSP00000385678:E155G;ENSP00000385188:E155G;ENSP00000385535:E155G;ENSP00000332931:E155G;ENSP00000384908:E155G;ENSP00000385811:E155G;ENSP00000443515:E155G	ENSP00000332931:E155G	E	-	2	0	SLC8A1	40510461	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.881000	0.87252	2.140000	0.66376	0.460000	0.39030	GAA		PASS	0.458	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		6	130	6	130	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43871901	43871901	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:43871901A>G	ENST00000282406.4	+	2	199	c.89A>G	c.(88-90)cAa>cGa	p.Q30R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	30					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.Q30R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGAGTTCAAGCAAGCAAG	0.393																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(88-90)CAA>CGA		pleckstrin homology domain containing, family H							87.0	82.0	84.0					2																	43871901		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43871901A>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.89A>G	2.37:g.43871901A>G	ENSP00000282406:p.Gln30Arg					PLEKHH2_uc002rte.3_Missense_Mutation_p.Q30R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q30R	p.Q30R	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			2	172	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	30			Potential.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.89A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214432	0.79352	.	.	ENSG00000152527	ENST00000282406	T	0.52295	0.67	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.61703	1.905	0.42879	D	0.994167	D;D	0.76494	0.998;0.999	D;D	0.91635	0.991;0.999	T	0.69982	-0.4997	10	0.87932	D	0	-13.8236	14.3945	0.67001	1.0:0.0:0.0:0.0	.	30;30	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	R	30	ENSP00000282406:Q30R	ENSP00000282406:Q30R	Q	+	2	0	PLEKHH2	43725405	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.208000	0.77907	2.047000	0.60756	0.533000	0.62120	CAA		PASS	0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		28	86	28	86	---	---	---	---
PREPL	9581	broad.mit.edu	37	2	44573523	44573523	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:44573523G>T	ENST00000409936.1	-	3	663	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000409272.1_Missense_Mutation_p.Q76K|PREPL_ENST00000409957.1_5'UTR|PREPL_ENST00000409411.1_5'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.Q76K|PREPL_ENST00000378511.3_Missense_Mutation_p.Q76K|PREPL_ENST00000541738.1_5'UTR|PREPL_ENST00000410081.1_Missense_Mutation_p.Q76K|PREPL_ENST00000378520.3_Missense_Mutation_p.Q76K	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	76						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Q76K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTAACAGGCTGAAGATCCTGG	0.318																																						uc002ruf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)CAG>AAG		prolyl endopeptidase-like isoform C							105.0	99.0	101.0					2																	44573523		2202	4300	6502	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44573523G>T	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.226C>A	2.37:g.44573523G>T	ENSP00000386543:p.Gln76Lys					PREPL_uc002rug.2_Missense_Mutation_p.Q76K|PREPL_uc002ruh.2_Missense_Mutation_p.Q76K|PREPL_uc010fax.2_Missense_Mutation_p.Q76K|PREPL_uc002rui.3_5'UTR|PREPL_uc002ruj.1_5'UTR|PREPL_uc002ruk.1_Missense_Mutation_p.Q76K	p.Q76K	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			2	261	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	76					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.226C>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	G	1.329	-0.597182	0.03771	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.08	4.21	0.49690	.	0.646542	0.13010	N	0.420918	T	0.27798	0.0684	N	0.08118	0	0.80722	D	1	B;B;B	0.14438	0.005;0.01;0.003	B;B;B	0.12837	0.004;0.008;0.004	T	0.07177	-1.0786	9	0.06236	T	0.91	1.193	9.2516	0.37557	0.0969:0.0:0.9031:0.0	.	76;76;76	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	K	76	.	ENSP00000260648:Q76K	Q	-	1	0	PREPL	44427027	1.000000	0.71417	0.997000	0.53966	0.221000	0.24807	2.617000	0.46385	1.363000	0.46019	-0.218000	0.12543	CAG		PASS	0.318	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		4	175	4	175	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71740931	71740931	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:71740931G>T	ENST00000258104.3	+	6	820	c.543G>T	c.(541-543)ggG>ggT	p.G181G	DYSF_ENST00000410020.3_Silent_p.G213G|DYSF_ENST00000410041.1_Silent_p.G213G|DYSF_ENST00000394120.2_Silent_p.G182G|DYSF_ENST00000409762.1_Silent_p.G212G|DYSF_ENST00000409651.1_Silent_p.G213G|DYSF_ENST00000409366.1_Silent_p.G182G|DYSF_ENST00000429174.2_Silent_p.G181G|DYSF_ENST00000409582.3_Silent_p.G212G|DYSF_ENST00000409744.1_Silent_p.G182G|DYSF_ENST00000413539.2_Silent_p.G212G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	181					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.G213G(1)|p.G181G(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGCCCGGGGGCTCCCACCA	0.592																																						uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(541-543)GGG>GGT		dysferlin isoform 8							52.0	53.0	52.0					2																	71740931		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71740931G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.543G>T	2.37:g.71740931G>T						DYSF_uc010feg.2_Silent_p.G212G|DYSF_uc010feh.2_Silent_p.G181G|DYSF_uc002sig.3_Silent_p.G181G|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.G181G|DYSF_uc010fef.2_Silent_p.G212G|DYSF_uc010fei.2_Silent_p.G212G|DYSF_uc010fek.2_Silent_p.G213G|DYSF_uc010fej.2_Silent_p.G182G|DYSF_uc010fel.2_Silent_p.G182G|DYSF_uc010feo.2_Silent_p.G213G|DYSF_uc010fem.2_Silent_p.G182G|DYSF_uc010fen.2_Silent_p.G213G|DYSF_uc002sif.2_Silent_p.G182G	p.G181G	NM_003494	NP_003485	O75923	DYSF_HUMAN			6	919	+			181			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.543G>T	CCDS1918.1																																																																																				PASS	0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		34	64	34	64	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71795349	71795349	+	Silent	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:71795349G>C	ENST00000258104.3	+	26	2968	c.2691G>C	c.(2689-2691)acG>acC	p.T897T	DYSF_ENST00000410020.3_Silent_p.T915T|DYSF_ENST00000410041.1_Silent_p.T915T|DYSF_ENST00000394120.2_Silent_p.T898T|DYSF_ENST00000409762.1_Silent_p.T914T|DYSF_ENST00000409651.1_Silent_p.T929T|DYSF_ENST00000409366.1_Silent_p.T898T|DYSF_ENST00000429174.2_Silent_p.T897T|DYSF_ENST00000409582.3_Silent_p.T914T|DYSF_ENST00000409744.1_Silent_p.T884T|DYSF_ENST00000413539.2_Silent_p.T928T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	897					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.T915T(2)|p.T897T(2)|p.T897>?(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGGCACAACGGGCCTCACCT	0.607																																						uc002sie.2																			5	Substitution - coding silent(4)|Complex(1)		lung(2)|kidney(2)|skin(1)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2689-2691)ACG>ACC		dysferlin isoform 8							155.0	157.0	156.0					2																	71795349		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795349G>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2691G>C	2.37:g.71795349G>C						DYSF_uc010feg.2_Silent_p.T928T|DYSF_uc010feh.2_Silent_p.T883T|DYSF_uc002sig.3_Silent_p.T883T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.T897T|DYSF_uc010fef.2_Silent_p.T914T|DYSF_uc010fei.2_Silent_p.T914T|DYSF_uc010fek.2_Silent_p.T915T|DYSF_uc010fej.2_Silent_p.T884T|DYSF_uc010fel.2_Silent_p.T884T|DYSF_uc010feo.2_Silent_p.T929T|DYSF_uc010fem.2_Silent_p.T898T|DYSF_uc010fen.2_Silent_p.T915T|DYSF_uc002sif.2_Silent_p.T898T	p.T897T	NM_003494	NP_003485	O75923	DYSF_HUMAN			26	3067	+			897			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.2691G>C	CCDS1918.1																																																																																				PASS	0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		136	310	136	310	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745694	77745694	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:77745694A>T	ENST00000409093.1	-	3	1637	c.1301T>A	c.(1300-1302)cTc>cAc	p.L434H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.L435H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.L434H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.L434H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L435H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	434					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.L434H(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCCACTGAGAGAAAGAGAGC	0.502																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1300-1302)CTC>CAC		leucine rich repeat transmembrane neuronal 4							71.0	73.0	72.0					2																	77745694		1976	4170	6146	SO:0001583	missense	80059					integral to membrane		g.chr2:77745694A>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1301T>A	2.37:g.77745694A>T	ENSP00000386357:p.Leu434His					LRRTM4_uc002snq.2_Missense_Mutation_p.L434H|LRRTM4_uc002sns.2_Missense_Mutation_p.L434H|LRRTM4_uc002snt.2_Missense_Mutation_p.L435H	p.L434H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1716	-			434			Helical; (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1301T>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206759	0.58343	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.68	5.68	0.88126	.	0.070064	0.64402	D	0.000017	D	0.84383	0.5460	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77004	0.962;0.989;0.987	D	0.85170	0.0997	10	0.52906	T	0.07	.	14.7536	0.69546	1.0:0.0:0.0:0.0	.	435;434;434	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	435;434;434;434;435	ENSP00000387228:L435H;ENSP00000387297:L434H;ENSP00000386357:L434H;ENSP00000386236:L434H;ENSP00000386286:L435H	ENSP00000386236:L434H	L	-	2	0	LRRTM4	77599202	1.000000	0.71417	0.931000	0.37212	0.981000	0.71138	9.339000	0.96797	2.156000	0.67533	0.533000	0.62120	CTC		PASS	0.502	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		39	84	39	84	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746911	77746911	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:77746911C>A	ENST00000409093.1	-	3	420	c.84G>T	c.(82-84)acG>acT	p.T28T	LRRTM4_ENST00000409911.1_Silent_p.T29T|LRRTM4_ENST00000409884.1_Silent_p.T28T|LRRTM4_ENST00000409088.3_Silent_p.T28T|LRRTM4_ENST00000409282.1_Silent_p.T29T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T28T(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTGAGCACCCGTGAGCATAA	0.448																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(82-84)ACG>ACT		leucine rich repeat transmembrane neuronal 4							70.0	69.0	69.0					2																	77746911		2027	4198	6225	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746911C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.84G>T	2.37:g.77746911C>A						LRRTM4_uc002snq.2_Silent_p.T28T|LRRTM4_uc002sns.2_Silent_p.T28T|LRRTM4_uc002snt.2_Silent_p.T29T	p.T28T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	499	-			28					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.84G>T	CCDS46346.1																																																																																				PASS	0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		19	56	19	56	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79971682	79971682	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:79971682C>A	ENST00000402739.4	+	2	277	c.272C>A	c.(271-273)gCt>gAt	p.A91D	CTNNA2_ENST00000466387.1_Missense_Mutation_p.A91D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A91D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A91D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A91D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A125D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	91					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A91D(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGTTGGTGGCTGCTGTAGAG	0.433																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(271-273)GCT>GAT		catenin, alpha 2 isoform 1							88.0	93.0	92.0					2																	79971682		2022	4204	6226	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971682C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.272C>A	2.37:g.79971682C>A	ENSP00000384638:p.Ala91Asp					CTNNA2_uc010yse.1_Missense_Mutation_p.A91D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A91D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A91D	p.A91D	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	277	+			91					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.272C>A		.	.	.	.	.	.	.	.	.	.	C	16.77	3.214154	0.58452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.5	5.5	0.81552	.	0.131407	0.49916	D	0.000132	T	0.36303	0.0962	L	0.46741	1.465	0.52501	D	0.99995	B;B;B	0.22211	0.066;0.036;0.036	B;B;B	0.32928	0.155;0.06;0.06	T	0.11817	-1.0572	10	0.13853	T	0.58	.	16.8821	0.86066	0.0:1.0:0.0:0.0	.	91;91;91	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	D	91;91;91;125;91;91;91	ENSP00000418191:A91D;ENSP00000419295:A91D;ENSP00000387073:A91D;ENSP00000355398:A125D;ENSP00000384638:A91D;ENSP00000444675:A91D;ENSP00000441705:A91D	ENSP00000355398:A125D	A	+	2	0	CTNNA2	79825190	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	3.167000	0.50793	2.586000	0.87340	0.467000	0.42956	GCT		PASS	0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		20	51	20	51	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80136740	80136740	+	Silent	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:80136740C>G	ENST00000402739.4	+	6	878	c.873C>G	c.(871-873)ccC>ccG	p.P291P	CTNNA2_ENST00000466387.1_Silent_p.P291P|CTNNA2_ENST00000496558.1_Silent_p.P291P|CTNNA2_ENST00000541047.1_Silent_p.P291P|CTNNA2_ENST00000540488.1_Silent_p.P291P|CTNNA2_ENST00000361291.4_Silent_p.P325P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	291					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.P291P(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCCTGGACCCCATGACGTTCA	0.552																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(871-873)CCC>CCG		catenin, alpha 2 isoform 1							59.0	63.0	62.0					2																	80136740		1974	4182	6156	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136740C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.873C>G	2.37:g.80136740C>G						CTNNA2_uc010yse.1_Silent_p.P291P|CTNNA2_uc010ysf.1_Silent_p.P291P|CTNNA2_uc010ysg.1_Silent_p.P291P	p.P291P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	878	+			291					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.873C>G																																																																																					PASS	0.552	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		47	112	47	112	---	---	---	---
ANKRD36B	57730	broad.mit.edu	37	2	98177143	98177143	+	RNA	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:98177143G>T	ENST00000443455.1	-	0	960							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCAGATATAGGTCCCTCCTTT	0.358																																						uc010yvc.1																			0					0						c.(850-852)CCT>ACT		ankyrin repeat domain 36B							90.0	97.0	95.0					2																	98177143		1077	2275	3352			57730							g.chr2:98177143G>T	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98177143G>T						ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	p.P284T	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			8	1130	-			284					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37	c.850C>A																																																																																					PASS	0.358	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		41	133	41	133	---	---	---	---
IL1R1	3554	broad.mit.edu	37	2	102791159	102791159	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:102791159G>T	ENST00000410023.1	+	10	1422	c.1104G>T	c.(1102-1104)agG>agT	p.R368S	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.R368S|IL1R1_ENST00000409329.1_Missense_Mutation_p.R368S|IL1R1_ENST00000233946.3_Missense_Mutation_p.R368S|IL1R1_ENST00000424272.1_Missense_Mutation_p.R368S|IL1R1_ENST00000409288.1_Missense_Mutation_p.R368S|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	368					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.R368S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TTTGGTACAGGGATTCCTGCT	0.348																																						uc002tbq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1102-1104)AGG>AGT		interleukin 1 receptor, type I precursor	Anakinra(DB00026)						187.0	176.0	180.0					2																	102791159		2202	4300	6502	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102791159G>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1104G>T	2.37:g.102791159G>T	ENSP00000386380:p.Arg368Ser					IL1R1_uc010fix.2_Missense_Mutation_p.R368S|IL1R1_uc002tbp.2_Missense_Mutation_p.R368S|IL1R1_uc002tbr.2_Missense_Mutation_p.R368S	p.R368S	NM_000877	NP_000868	P14778	IL1R1_HUMAN			10	1422	+			368			Cytoplasmic (Potential).		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1104G>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762064	0.69763	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.16457	4.5;2.41;2.41;2.34;2.41;3.77;3.77	5.57	0.403	0.16350	.	0.091399	0.64402	D	0.000001	T	0.40372	0.1114	M	0.88640	2.97	0.44073	D	0.996828	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	T	0.14839	-1.0458	10	0.87932	D	0	.	5.7663	0.18229	0.345:0.0:0.5357:0.1193	.	368;368;368	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	S	368;368;368;224;368;368;368	ENSP00000386776:R368S;ENSP00000415366:R368S;ENSP00000387131:R368S;ENSP00000410461:R224S;ENSP00000386478:R368S;ENSP00000386380:R368S;ENSP00000233946:R368S	ENSP00000233946:R368S	R	+	3	2	IL1R1	102157591	0.973000	0.33851	0.995000	0.50966	0.984000	0.73092	0.092000	0.15066	-0.134000	0.11516	0.655000	0.94253	AGG		PASS	0.348	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			4	165	4	165	---	---	---	---
CCDC138	165055	broad.mit.edu	37	2	109411052	109411052	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:109411052G>T	ENST00000295124.4	+	5	511	c.451G>T	c.(451-453)Gca>Tca	p.A151S	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.A151S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	151								p.A151S(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTGTAGTGATGCAGGTGACTC	0.393																																						uc002ten.1																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GCA>TCA		coiled-coil domain containing 138							92.0	91.0	91.0					2																	109411052		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109411052G>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.451G>T	2.37:g.109411052G>T	ENSP00000295124:p.Ala151Ser					CCDC138_uc002teo.1_Missense_Mutation_p.A151S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.A151S	NM_144978	NP_659415	Q96M89	CC138_HUMAN			5	511	+			151					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.451G>T	CCDS2080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.247|8.247	0.808239|0.808239	0.16467|0.16467	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	D;D|.	0.90788|.	-2.73;-2.73|.	5.76|5.76	-1.02|-1.02	0.10135|0.10135	.|.	1.090450|.	0.06985|.	N|.	0.820659|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.006|.	B;B|.	0.12156|.	0.007;0.004|.	T|T	0.26395|0.26395	-1.0104|-1.0104	10|5	0.07482|.	T|.	0.82|.	-9.7878|-9.7878	1.2465|1.2465	0.01973|0.01973	0.3329:0.1376:0.3807:0.1488|0.3329:0.1376:0.3807:0.1488	.|.	151;151|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	S|I	151|48	ENSP00000411800:A151S;ENSP00000295124:A151S|.	ENSP00000295124:A151S|.	A|M	+|+	1|3	0|0	CCDC138|CCDC138	108777484|108777484	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.668000|0.668000	0.39293|0.39293	-0.095000|-0.095000	0.11077|0.11077	-0.165000|-0.165000	0.10908|0.10908	0.561000|0.561000	0.74099|0.74099	GCA|ATG		PASS	0.393	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		64	101	64	101	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111425421	111425421	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:111425421T>A	ENST00000302759.6	-	7	691	c.573A>T	c.(571-573)tcA>tcT	p.S191S	BUB1_ENST00000409311.1_Silent_p.S191S|BUB1_ENST00000535254.1_Silent_p.S171S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	191					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S191S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAGAAAGCTCTGAACCCTAAA	0.338																																						uc002tgc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(571-573)TCA>TCT		budding uninhibited by benzimidazoles 1							137.0	148.0	144.0					2																	111425421		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425421T>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.573A>T	2.37:g.111425421T>A						BUB1_uc010yxh.1_Silent_p.S171S|BUB1_uc010fkb.2_Silent_p.S191S|BUB1_uc002tgd.2_Silent_p.S191S	p.S191S	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	7	685	-		Ovarian(717;0.0822)	191					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.573A>T	CCDS33273.1																																																																																				PASS	0.338	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		82	177	82	177	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120720314	120720314	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:120720314C>T	ENST00000263708.2	+	24	3174	c.2403C>T	c.(2401-2403)aaC>aaT	p.N801N	PTPN4_ENST00000544261.1_Silent_p.N434N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	801	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.N801N(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTATTTAACCAAGAGGTAA	0.413																																						uc002tmf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2401-2403)AAC>AAT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						83.0	78.0	79.0					2																	120720314		2203	4300	6503	SO:0001819	synonymous_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120720314C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2403C>T	2.37:g.120720314C>T						PTPN4_uc010flj.1_Silent_p.N514N|PTPN4_uc010yyr.1_Silent_p.N434N	p.N801N	NM_002830	NP_002821	P29074	PTN4_HUMAN			24	3174	+			801			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	c.2403C>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	5.415	0.261793	0.10239	.	.	ENSG00000088179	ENST00000441089	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	T	0.61615	0.2361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58572	-0.7613	4	.	.	.	.	11.0124	0.47669	0.0:0.8584:0.0:0.1416	.	.	.	.	S	85	.	.	P	+	1	0	PTPN4	120436784	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	3.089000	0.50183	2.592000	0.87571	0.460000	0.39030	CCA		PASS	0.413	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			16	102	16	102	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121746735	121746735	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:121746735C>G	ENST00000452319.1	+	14	3305	c.3245C>G	c.(3244-3246)aCc>aGc	p.T1082S	GLI2_ENST00000361492.4_Missense_Mutation_p.T1082S|GLI2_ENST00000314490.11_Missense_Mutation_p.T754S					GLI family zinc finger 2									p.T1082S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GACGAGGGCACCGGGCAGGTG	0.682																																						uc010flp.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3244-3246)ACC>AGC		GLI-Kruppel family member GLI2							55.0	61.0	59.0					2																	121746735		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746735C>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3245C>G	2.37:g.121746735C>G	ENSP00000390436:p.Thr1082Ser					GLI2_uc002tmq.1_Missense_Mutation_p.T754S|GLI2_uc002tmr.1_Missense_Mutation_p.T737S|GLI2_uc002tmt.3_Missense_Mutation_p.T754S|GLI2_uc002tmu.3_Missense_Mutation_p.T737S	p.T1082S	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3275	+	Renal(3;0.0496)	Prostate(154;0.0623)	1082						Missense_Mutation	SNP	ENST00000452319.1	37	c.3245C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093975	0.01858	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.13420	2.59;2.59;2.63	4.78	0.178	0.15058	.	2.461760	0.01153	N	0.006468	T	0.07548	0.0190	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.24368	-1.0162	10	0.05721	T	0.95	.	4.7881	0.13234	0.1919:0.5014:0.2286:0.0781	.	1082;737;737;754	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	S	1082;1082;754	ENSP00000390436:T1082S;ENSP00000354586:T1082S;ENSP00000312694:T754S	ENSP00000312694:T754S	T	+	2	0	GLI2	121463205	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.288000	0.18939	0.185000	0.20105	0.456000	0.33151	ACC		PASS	0.682	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		31	88	31	88	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261888	125261888	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:125261888G>T	ENST00000431078.1	+	8	1443	c.1079G>T	c.(1078-1080)tGc>tTc	p.C360F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	360	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.C360F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTTTTTCCTGCTCCGAACCA	0.458																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1078-1080)TGC>TTC		contactin associated protein-like 5 precursor							120.0	107.0	111.0					2																	125261888		1868	4113	5981	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261888G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1079G>T	2.37:g.125261888G>T	ENSP00000399013:p.Cys360Phe					CNTNAP5_uc010flu.2_Missense_Mutation_p.C361F	p.C360F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1443	+			360			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1079G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137921	0.77775	.	.	ENSG00000155052	ENST00000431078	T	0.80824	-1.42	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.53938	D	0.000046	D	0.92473	0.7610	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93693	0.7009	10	0.87932	D	0	.	18.9234	0.92536	0.0:0.0:1.0:0.0	.	360	Q8WYK1	CNTP5_HUMAN	F	360	ENSP00000399013:C360F	ENSP00000399013:C360F	C	+	2	0	CNTNAP5	124978358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.570000	0.90748	2.703000	0.92315	0.655000	0.94253	TGC		PASS	0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			7	83	7	83	---	---	---	---
CCNT2	905	broad.mit.edu	37	2	135711685	135711685	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:135711685A>G	ENST00000264157.5	+	9	1690	c.1660A>G	c.(1660-1662)Aga>Gga	p.R554G	CCNT2_ENST00000295238.6_Missense_Mutation_p.R554G|CCNT2_ENST00000537343.1_Missense_Mutation_p.R379G	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	554					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R554G(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACATATTAGCAGAGACCATAA	0.483																																						uc002tuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1660-1662)AGA>GGA		cyclin T2 isoform b							87.0	85.0	86.0					2																	135711685		2203	4300	6503	SO:0001583	missense	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711685A>G	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1660A>G	2.37:g.135711685A>G	ENSP00000264157:p.Arg554Gly					CCNT2_uc002tub.1_Missense_Mutation_p.R554G|CCNT2_uc010zbf.1_Missense_Mutation_p.R379G|CCNT2_uc002tud.1_Missense_Mutation_p.R217G	p.R554G	NM_058241	NP_490595	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1692	+			554					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	c.1660A>G	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337173	0.24253	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.26810	1.72;1.71	5.71	3.21	0.36854	.	0.087086	0.85682	D	0.000000	T	0.22437	0.0541	L	0.38175	1.15	0.32013	N	0.601767	B;B;B	0.27679	0.13;0.049;0.185	B;B;B	0.30572	0.025;0.024;0.117	T	0.18398	-1.0338	10	0.87932	D	0	.	11.8516	0.52415	0.7227:0.2773:0.0:0.0	.	379;554;554	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	G	379;554;554	ENSP00000295238:R554G;ENSP00000264157:R554G	ENSP00000264157:R554G	R	+	1	2	CCNT2	135428155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.449000	0.44935	0.384000	0.24942	0.528000	0.53228	AGA		PASS	0.483	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		44	90	44	90	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135893449	135893449	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:135893449G>C	ENST00000264158.8	+	17	1913	c.1870G>C	c.(1870-1872)Ggg>Cgg	p.G624R	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G624R|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000487003.1_3'UTR|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G580R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	624					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G624R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTATCAGCATGGGAAACTTAC	0.413																																						uc002tuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1870-1872)GGG>CGG		RAB3 GTPase-activating protein							104.0	106.0	105.0					2																	135893449		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893449G>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1870G>C	2.37:g.135893449G>C	ENSP00000264158:p.Gly624Arg					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G624R|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G449R|RAB3GAP1_uc010fnh.1_RNA	p.G624R	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1895	+			624					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1870G>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296600	0.81025	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.52057	0.68;0.68;0.68	5.4	5.4	0.78164	.	0.096626	0.64402	D	0.000001	T	0.72358	0.3450	M	0.83118	2.625	0.50813	D	0.999894	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.98	T	0.75431	-0.3320	10	0.56958	D	0.05	-15.4042	19.1633	0.93543	0.0:0.0:1.0:0.0	.	624;624	C9J837;Q15042	.;RB3GP_HUMAN	R	624;580;624	ENSP00000264158:G624R;ENSP00000444306:G580R;ENSP00000411418:G624R	ENSP00000264158:G624R	G	+	1	0	RAB3GAP1	135609919	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.721000	0.84768	2.536000	0.85505	0.591000	0.81541	GGG		PASS	0.413	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		28	129	28	129	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141128387	141128387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:141128387C>A	ENST00000389484.3	-	71	11871	c.10900G>T	c.(10900-10902)Gaa>Taa	p.E3634*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3634	LDL-receptor class A 29. {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.E3634*(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)		AACTGATCTTCCTTACATTCA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Nonsense(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.(10900-10902)GAA>TAA		low density lipoprotein-related protein 1B							162.0	148.0	153.0					2																	141128387		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128387C>A	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.10900G>T	2.37:g.141128387C>A	ENSP00000374135:p.Glu3634*	TSP Lung(27;0.18)					p.E3634*	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)	71	11872	-		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)	3634			Extracellular (Potential).|LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.10900G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	56	26.475054	0.99969	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.4688	0.67501	0.0:0.8531:0.1469:0.0	.	.	.	.	X	3634;3572	.	ENSP00000374135:E3634X	E	-	1	0	LRP1B	140844857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.494000	0.60347	2.461000	0.83175	0.591000	0.81541	GAA		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	121	36	121	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141128806	141128806	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:141128806C>G	ENST00000389484.3	-	70	11788	c.10817G>C	c.(10816-10818)tGt>tCt	p.C3606S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3606	LDL-receptor class A 28. {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.C3606S(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)		TGCTGAAATACATCCATCACT	0.284										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.(10816-10818)TGT>TCT		low density lipoprotein-related protein 1B							37.0	37.0	37.0					2																	141128806		2202	4284	6486	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128806C>G	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.10817G>C	2.37:g.141128806C>G	ENSP00000374135:p.Cys3606Ser	TSP Lung(27;0.18)					p.C3606S	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)	70	11789	-		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)	3606			Extracellular (Potential).|LDL-receptor class A 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10817G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630597	0.87660	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.5	5.5	0.81552	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96149	0.9106	10	0.87932	D	0	.	19.3873	0.94563	0.0:1.0:0.0:0.0	.	3606	Q9NZR2	LRP1B_HUMAN	S	3606;3544	ENSP00000374135:C3606S	ENSP00000374135:C3606S	C	-	2	0	LRP1B	140845276	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	5.527000	0.67123	2.578000	0.87016	0.591000	0.81541	TGT		PASS	0.284	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	64	13	64	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141680640	141680640	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:141680640C>G	ENST00000389484.3	-	21	4184	c.3213G>C	c.(3211-3213)tgG>tgC	p.W1071C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1071	LDL-receptor class A 8. {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.W1071C(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)		CATCACAGCGCCACAAATCAG	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.(3211-3213)TGG>TGC		low density lipoprotein-related protein 1B							174.0	153.0	160.0					2																	141680640		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680640C>G	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.3213G>C	2.37:g.141680640C>G	ENSP00000374135:p.Trp1071Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.W253C	p.W1071C	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)	21	4185	-		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)	1071			Extracellular (Potential).|LDL-receptor class A 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3213G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352067	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96300	-3.97;-3.97	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.159350	0.45606	U	0.000349	D	0.98661	0.9551	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	D	0.99572	1.0971	10	0.66056	D	0.02	.	18.7123	0.91662	0.0:1.0:0.0:0.0	.	254;1071	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	1071;1009;216	ENSP00000374135:W1071C;ENSP00000413239:W216C	ENSP00000374135:W1071C	W	-	3	0	LRP1B	141397110	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.399000	0.79935	2.419000	0.82065	0.557000	0.71058	TGG		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	106	31	106	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555413	155555413	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:155555413G>C	ENST00000295101.2	+	1	603	c.126G>C	c.(124-126)aaG>aaC	p.K42N	KCNJ3_ENST00000544049.1_Missense_Mutation_p.K42N|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	42					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.K42N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAGAAGAAGCGGCAGCGGT	0.637																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(124-126)AAG>AAC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						41.0	45.0	44.0					2																	155555413		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555413G>C	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.126G>C	2.37:g.155555413G>C	ENSP00000295101:p.Lys42Asn					KCNJ3_uc010zce.1_Missense_Mutation_p.K42N	p.K42N	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	321	+			42			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.126G>C	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697200	0.30142	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.91843	-2.52;-2.92	4.92	2.04	0.26737	.	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	L	0.32530	0.975	0.58432	D	0.999993	B;B	0.32893	0.389;0.389	B;B	0.40038	0.25;0.317	T	0.81360	-0.0968	10	0.42905	T	0.14	.	7.7447	0.28862	0.3578:0.0:0.6422:0.0	.	42;42	B4DEW7;P48549	.;IRK3_HUMAN	N	42	ENSP00000295101:K42N;ENSP00000438410:K42N	ENSP00000295101:K42N	K	+	3	2	KCNJ3	155263659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.131000	0.57970	0.475000	0.27415	-0.266000	0.10368	AAG		PASS	0.637	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		13	42	13	42	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159499163	159499163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:159499163C>T	ENST00000389759.3	+	11	1973	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	PKP4_ENST00000389757.3_Nonsense_Mutation_p.R621*	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	621					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R621*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGCCTTGTTGCGACTGTTGAG	0.413										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(2)	7						c.(1861-1863)CGA>TGA		plakophilin 4 isoform a							160.0	161.0	161.0					2																	159499163		2203	4300	6503	SO:0001587	stop_gained	8502				cell adhesion	desmosome	protein binding	g.chr2:159499163C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1861C>T	2.37:g.159499163C>T	ENSP00000374409:p.Arg621*	HNSCC(62;0.18)				PKP4_uc002tzt.1_Nonsense_Mutation_p.R473*|PKP4_uc002tzu.2_Nonsense_Mutation_p.R621*|PKP4_uc002tzw.2_Nonsense_Mutation_p.R621*|PKP4_uc002tzx.2_Nonsense_Mutation_p.R278*|PKP4_uc002tzy.1_Nonsense_Mutation_p.R279*|PKP4_uc002tzz.1_Nonsense_Mutation_p.R619*|PKP4_uc002uaa.2_Nonsense_Mutation_p.R473*	p.R621*	NM_003628	NP_003619	Q99569	PKP4_HUMAN			11	2121	+			621			ARM 4.		Q86W91	Nonsense_Mutation	SNP	ENST00000389759.3	37	c.1861C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	40	8.523683	0.98848	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	.	.	.	5.87	0.287	0.15714	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3574	16.8442	0.85976	0.6553:0.3447:0.0:0.0	.	.	.	.	X	472;621;621	.	ENSP00000374407:R621X	R	+	1	2	PKP4	159207409	0.591000	0.26824	1.000000	0.80357	0.982000	0.71751	0.585000	0.23879	0.342000	0.23796	0.655000	0.94253	CGA		PASS	0.413	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			9	134	9	134	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163174644	163174644	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:163174644T>C	ENST00000263642.2	-	1	569	c.174A>G	c.(172-174)gcA>gcG	p.A58A	IFIH1_ENST00000421365.2_Silent_p.A58A|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	58	CARD 1.				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.A58A(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						GCAGTTCAACTGCCTGCATGT	0.607																																						uc002uce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)GCA>GCG		interferon induced with helicase C domain 1							67.0	63.0	64.0					2																	163174644		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:163174644T>C	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.174A>G	2.37:g.163174644T>C						IFIH1_uc002ucf.2_Silent_p.A58A	p.A58A	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			1	396	-			58			CARD 1.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	c.174A>G	CCDS2217.1																																																																																				PASS	0.607	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		18	77	18	77	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166870371	166870371	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:166870371C>A	ENST00000303395.4	-	18	3587	c.3588G>T	c.(3586-3588)gtG>gtT	p.V1196V	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.V1168V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.V1185V|SCN1A_ENST00000423058.2_Silent_p.V1196V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1196					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.V1196V(1)|p.V1185V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCTTCTTCCACATTGATTT	0.383																																						uc010zcz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3553-3555)GTG>GTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						242.0	211.0	221.0					2																	166870371		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166870371C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3588G>T	2.37:g.166870371C>A						SCN1A_uc002udo.3_Silent_p.V1065V|SCN1A_uc010fpk.2_Silent_p.V1037V	p.V1185V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			18	3573	-			1196					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3555G>T	CCDS54413.1																																																																																				PASS	0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		26	179	26	179	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179495637	179495637	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:179495637C>G	ENST00000591111.1	-	188	39349	c.39125G>C	c.(39124-39126)aGt>aCt	p.S13042T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S14683T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12115T|TTN_ENST00000460472.2_Missense_Mutation_p.S5618T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5743T|TTN_ENST00000342175.6_Missense_Mutation_p.S5810T			Q8WZ42	TITIN_HUMAN	titin	13042					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.S12115T(2)|p.S5618T(1)|p.S5743T(1)|p.S5810T(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)			CACCTCCACACTGTGCAGGGG	0.498																																						uc010zfg.1																			5	Substitution - Missense(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.(36343-36345)AGT>ACT		titin isoform N2-A							97.0	95.0	96.0					2																	179495637		1956	4142	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495637C>G	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.39125G>C	2.37:g.179495637C>G	ENSP00000465570:p.Ser13042Thr					TTN_uc010zfh.1_Missense_Mutation_p.S5810T|TTN_uc010zfi.1_Missense_Mutation_p.S5743T|TTN_uc010zfj.1_Missense_Mutation_p.S5618T	p.S12115T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		187	36568	-			13042					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.36344G>C		.	.	.	.	.	.	.	.	.	.	C	17.49	3.402947	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63988	0.2558	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.73380	0.98;0.98;0.98;0.98	T	0.63422	-0.6641	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5618;5743;5810;13042	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	12115;5618;5810;5743;5618	ENSP00000343764:S12115T;ENSP00000434586:S5618T;ENSP00000340554:S5810T;ENSP00000352154:S5743T	ENSP00000340554:S5810T	S	-	2	0	TTN	179203882	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	AGT		PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	84	21	84	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179615578	179615578	+	Intron	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:179615578T>G	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3850A			Q8WZ42	TITIN_HUMAN	titin						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)			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)			TGTGGATGACTCTCCAATTGT	0.373																																						uc002unb.2																			0				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.(11548-11550)GAG>GCG		titin isoform novex-3							98.0	100.0	99.0					2																	179615578		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615578T>G	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.10360+2272A>C	2.37:g.179615578T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E3850A	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11773	-			9685					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.11549A>C		.	.	.	.	.	.	.	.	.	.	T	17.27	3.348127	0.61183	.	.	ENSG00000155657	ENST00000360870	T	0.62105	0.05	5.4	4.23	0.50019	.	.	.	.	.	T	0.43478	0.1249	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19614	-1.0300	9	0.10902	T	0.67	.	10.6685	0.45745	0.0:0.0:0.1606:0.8393	.	3850	Q8WZ42-6	.	A	3850	ENSP00000354117:E3850A	ENSP00000354117:E3850A	E	-	2	0	TTN	179323823	0.058000	0.20735	0.574000	0.28523	0.006000	0.05464	0.641000	0.24720	0.966000	0.38159	0.533000	0.62120	GAG		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	161	46	161	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196689162	196689162	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:196689162T>A	ENST00000312428.6	-	49	9208	c.9108A>T	c.(9106-9108)ctA>ctT	p.L3036L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3036	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L3036L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAACATTTTCTAGCAACACTG	0.353																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(9106-9108)CTA>CTT		dynein, axonemal, heavy chain 7							109.0	99.0	102.0					2																	196689162		1813	4071	5884	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689162T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9108A>T	2.37:g.196689162T>A							p.L3036L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			49	9209	-			3036			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.9108A>T	CCDS42794.1																																																																																				PASS	0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		64	101	64	101	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197183868	197183868	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:197183868T>A	ENST00000260983.3	-	9	1928	c.1746A>T	c.(1744-1746)acA>acT	p.T582T	HECW2_ENST00000409111.1_Silent_p.T226T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	582					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T582T(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGAAGTCCCTGTGTCTGCGC	0.587																																						uc002utm.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1744-1746)ACA>ACT		HECT, C2 and WW domain containing E3 ubiquitin							51.0	46.0	48.0					2																	197183868		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183868T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1746A>T	2.37:g.197183868T>A						HECW2_uc002utl.1_Silent_p.T226T	p.T582T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1929	-			582					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1746A>T	CCDS33354.1																																																																																				PASS	0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		16	63	16	63	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219877985	219877985	+	Missense_Mutation	SNP	C	C	T	rs146800134	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:219877985C>T	ENST00000341552.5	-	24	4036	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1318Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1318Q|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1318						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R1318Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGACCTGCCGTGGGGGTAG	0.527																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3952-3954)CGG>CAG		coiled-coil domain containing 108 isoform 1		C	GLN/ARG	4,4400	6.2+/-15.9	0,4,2198	106.0	83.0	91.0		3953	3.6	1.0	2	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC108	NM_194302.2	43	0,5,6497	TT,TC,CC		0.0116,0.0908,0.0384	benign	1318/1926	219877985	5,12999	2202	4300	6502	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219877985C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3953G>A	2.37:g.219877985C>T	ENSP00000340776:p.Arg1318Gln						p.R1318Q	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	4037	-		Renal(207;0.0915)	1318					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3953G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960804	0.34565	9.08E-4	1.16E-4	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04862	3.54;3.54;3.54	4.47	3.59	0.41128	.	0.000000	0.40469	N	0.001098	T	0.07098	0.0180	M	0.63428	1.95	0.80722	D	1	B	0.30193	0.272	B	0.26693	0.072	T	0.24693	-1.0153	10	0.25751	T	0.34	-11.7967	7.5046	0.27536	0.0:0.7316:0.0:0.2684	.	1318	Q6ZU64	CC108_HUMAN	Q	1318	ENSP00000340776:R1318Q;ENSP00000413377:R1318Q;ENSP00000409117:R1318Q	ENSP00000340776:R1318Q	R	-	2	0	CCDC108	219586229	0.017000	0.18338	0.996000	0.52242	0.747000	0.42532	0.482000	0.22276	0.998000	0.38996	0.557000	0.71058	CGG		PASS	0.527	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		6	21	6	21	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219903118	219903118	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:219903118G>T	ENST00000341552.5	-	4	419	c.336C>A	c.(334-336)gcC>gcA	p.A112A	CCDC108_ENST00000410037.1_Silent_p.A47A|CCDC108_ENST00000453220.1_Silent_p.A112A|CCDC108_ENST00000441968.1_Silent_p.A112A|CCDC108_ENST00000409865.3_Silent_p.A101A|CCDC108_ENST00000324264.6_Silent_p.A47A|CCDC108_ENST00000295729.2_Silent_p.A47A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	112						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A112A(1)|p.A47A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTGCTGCAGGCACTCATGG	0.652																																						uc002vjl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(334-336)GCC>GCA		coiled-coil domain containing 108 isoform 1							60.0	50.0	53.0					2																	219903118		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219903118G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.336C>A	2.37:g.219903118G>T						CCDC108_uc010zkp.1_Silent_p.A101A|CCDC108_uc010zkq.1_Silent_p.A47A|CCDC108_uc002vjn.2_Silent_p.A47A	p.A112A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	420	-		Renal(207;0.0915)	112					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.336C>A	CCDS2430.2																																																																																				PASS	0.652	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		11	34	11	34	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225729367	225729368	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:225729367_225729368TG>AT	ENST00000258390.7	-	13	1571_1572	c.1504_1505CA>AT	c.(1504-1506)CAt>ATt	p.H502I	DOCK10_ENST00000409592.3_Missense_Mutation_p.H496I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	502					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.H502L(1)|p.H502N(1)|p.H502I(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)		AATTTCAGAATGTGGATTGCTT	0.361																																						uc010fwz.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1504-1506)CAT>CTT|c.(1504-1506)CAT>AAT		dedicator of cytokinesis 10																																				SO:0001583	missense	55619						GTP binding	g.chr2:225729367T>A|g.chr2:225729368G>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.1504_1505delinsAT	2.37:g.225729367_225729368delinsAT	ENSP00000258390:p.His502Ile					DOCK10_uc002vob.2_Missense_Mutation_p.H496L|DOCK10_uc002vod.1_Missense_Mutation_p.H502L|DOCK10_uc002vob.2_Missense_Mutation_p.H496N|DOCK10_uc002vod.1_Missense_Mutation_p.H502N	p.H502L|p.H502N	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)	13	1744|1743	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	502					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1505A>T|c.1504C>A	CCDS46528.1																																																																																				PASS	0.361	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	72|70	8	70	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226378242	226378242	+	Missense_Mutation	SNP	G	G	T	rs61753537	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:226378242G>T	ENST00000272907.6	+	3	790	c.377G>T	c.(376-378)gGc>gTc	p.G126V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	126					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G126V(2)									TCGGTTGGGGGCACAGACGAT	0.577																																						uc002voe.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(376-378)GGC>GTC		hypothetical protein LOC57624							63.0	74.0	70.0					2																	226378242		2108	4229	6337	SO:0001583	missense	57624							g.chr2:226378242G>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.377G>T	2.37:g.226378242G>T	ENSP00000272907:p.Gly126Val					KIAA1486_uc010fxa.1_Intron	p.G126V	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	3	552	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	126					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.377G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376720	0.82682	.	.	ENSG00000144460	ENST00000272907	T	0.43688	0.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66508	-0.5906	10	0.62326	D	0.03	-29.3628	19.434	0.94783	0.0:0.0:1.0:0.0	.	126	Q9P242	K1486_HUMAN	V	126	ENSP00000272907:G126V	ENSP00000272907:G126V	G	+	2	0	KIAA1486	226086486	1.000000	0.71417	0.184000	0.23157	0.734000	0.41952	9.400000	0.97290	2.590000	0.87494	0.563000	0.77884	GGC		PASS	0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		12	51	12	51	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230657770	230657770	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:230657770C>T	ENST00000283943.5	-	26	4013	c.3835G>A	c.(3835-3837)Gtg>Atg	p.V1279M	TRIP12_ENST00000389044.4_Missense_Mutation_p.V1327M|TRIP12_ENST00000389045.3_Missense_Mutation_p.V1009M	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1279					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.V1279M(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CACTGCTTCACATTTGCACAG	0.408																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3835-3837)GTG>ATG		thyroid hormone receptor interactor 12							126.0	121.0	122.0					2																	230657770		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230657770C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3835G>A	2.37:g.230657770C>T	ENSP00000283943:p.Val1279Met					TRIP12_uc002vpx.1_Missense_Mutation_p.V1327M|TRIP12_uc002vpy.1_Missense_Mutation_p.V1009M	p.V1279M	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	26	3944	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1279					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3835G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857965	0.91433	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47528	0.84;1.19;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	L	0.34521	1.04	0.80722	D	1	D;D;D	0.67145	0.99;0.996;0.99	D;D;D	0.70487	0.969;0.925;0.969	T	0.58719	-0.7587	10	0.46703	T	0.11	.	19.6261	0.95678	0.0:1.0:0.0:0.0	.	1009;1327;1279	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	M	1279;1009;1327	ENSP00000283943:V1279M;ENSP00000373697:V1009M;ENSP00000373696:V1327M	ENSP00000283943:V1279M	V	-	1	0	TRIP12	230366014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.615000	0.88500	0.650000	0.86243	GTG		PASS	0.408	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	116	4	116	---	---	---	---
GPR55	9290	broad.mit.edu	37	2	231774970	231774970	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:231774970C>A	ENST00000392040.1	-	2	900	c.708G>T	c.(706-708)gtG>gtT	p.V236V	GPR55_ENST00000392039.2_Silent_p.V236V|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	236					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.V236V(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGAAGGAGACCACGAAGACAG	0.582																																						uc002vrg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(706-708)GTG>GTT		G protein-coupled receptor 55							102.0	102.0	102.0					2																	231774970		2203	4300	6503	SO:0001819	synonymous_variant	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231774970C>A	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.708G>T	2.37:g.231774970C>A						GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.V236V	p.V236V	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	901	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	236			Helical; Name=6; (Potential).		Q8N580	Silent	SNP	ENST00000392040.1	37	c.708G>T	CCDS2480.1																																																																																				PASS	0.582	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		4	123	4	123	---	---	---	---
ALPI	248	broad.mit.edu	37	2	233322011	233322011	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:233322011C>A	ENST00000295463.3	+	5	704	c.627C>A	c.(625-627)ctC>ctA	p.L209L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	209					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.L209L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCACTCAGCTCATCTCCAACA	0.632																																						uc002vst.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)CTC>CTA		intestinal alkaline phosphatase precursor							114.0	114.0	114.0					2																	233322011		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322011C>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.627C>A	2.37:g.233322011C>A						ALPI_uc002vsu.3_Silent_p.L120L	p.L209L	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	704	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	209					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.627C>A	CCDS2492.1																																																																																				PASS	0.632	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		52	155	52	155	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233671354	233671354	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:233671354C>T	ENST00000409547.1	+	17	2104	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L	GIGYF2_ENST00000409196.3_Missense_Mutation_p.P592L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P429L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P598L|GIGYF2_ENST00000373566.3_Missense_Mutation_p.P620L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P620L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P619L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	598					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.P598L(1)|p.P619L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGTCCAGCTCCCCCTCCTCAT	0.428																																						uc002vti.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)	7						c.(1792-1794)CCC>CTC		GRB10 interacting GYF protein 2 isoform b							120.0	117.0	118.0					2																	233671354		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671354C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1793C>T	2.37:g.233671354C>T	ENSP00000386537:p.Pro598Leu					GIGYF2_uc010zmj.1_Missense_Mutation_p.P598L|GIGYF2_uc002vtg.2_Missense_Mutation_p.P592L|GIGYF2_uc002vtj.3_Missense_Mutation_p.P619L|GIGYF2_uc002vtk.3_Missense_Mutation_p.P598L|GIGYF2_uc002vth.3_Missense_Mutation_p.P592L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.P429L	p.P598L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	17	2130	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	598					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1793C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745587	0.69418	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.77489	-0.89;-0.91;-0.89;-0.91;-1.1;-0.9;-0.9;-1.08;-0.83	5.71	5.71	0.89125	.	0.059317	0.64402	D	0.000001	D	0.83991	0.5374	L	0.52905	1.665	0.80722	D	1	D;P;B;D	0.89917	1.0;0.714;0.06;0.999	D;B;B;D	0.91635	0.999;0.263;0.018;0.991	T	0.76990	-0.2754	10	0.02654	T	1	-9.6495	19.8706	0.96849	0.0:1.0:0.0:0.0	.	429;619;598;592	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	L	620;541;598;620;598;598;541;592;619;592;429	ENSP00000362667:P620L;ENSP00000362664:P598L;ENSP00000386765:P620L;ENSP00000386537:P598L;ENSP00000404195:P541L;ENSP00000387070:P592L;ENSP00000387170:P619L;ENSP00000410297:P592L;ENSP00000411505:P429L	ENSP00000362664:P598L	P	+	2	0	GIGYF2	233379598	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	6.008000	0.70739	2.691000	0.91804	0.563000	0.77884	CCC		PASS	0.428	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		6	198	6	198	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242142807	242142807	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr2:242142807C>T	ENST00000274979.8	+	9	1048	c.945C>T	c.(943-945)gtC>gtT	p.V315V	ANO7_ENST00000402430.3_Silent_p.V314V	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	315					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.V315V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGCGCCAAGTCCTTTTCCAGC	0.682																																						uc002wax.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(943-945)GTC>GTT		transmembrane protein 16G isoform NGEP long							30.0	29.0	30.0					2																	242142807		2188	4295	6483	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142807C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.945C>T	2.37:g.242142807C>T							p.V315V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			9	1048	+			315			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.945C>T	CCDS33423.1																																																																																				PASS	0.682	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		10	15	10	15	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1269545	1269545	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:1269545C>A	ENST00000446702.2	+	4	853	c.226C>A	c.(226-228)Cac>Aac	p.H76N	CNTN6_ENST00000350110.2_Missense_Mutation_p.H76N|CNTN6_ENST00000539053.1_Missense_Mutation_p.H4N			Q9UQ52	CNTN6_HUMAN	contactin 6	76	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.H76N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATGAGTTATCACTACAGGTT	0.403																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(226-228)CAC>AAC		contactin 6 precursor							133.0	130.0	131.0					3																	1269545		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269545C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.226C>A	3.37:g.1269545C>A	ENSP00000407822:p.His76Asn					CNTN6_uc010hbo.2_Missense_Mutation_p.H71N|CNTN6_uc011asj.1_Missense_Mutation_p.H4N|CNTN6_uc003bpa.2_Missense_Mutation_p.H76N	p.H76N	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	493	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	76			Ig-like C2-type 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.226C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390552	0.62066	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.64803	-0.12;0.2;-0.12	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.199503	0.35555	N	0.003137	T	0.59932	0.2230	N	0.22421	0.69	0.53688	D	0.999974	P;P	0.39717	0.611;0.684	B;P	0.45998	0.352;0.5	T	0.61242	-0.7102	10	0.49607	T	0.09	.	19.6977	0.96034	0.0:1.0:0.0:0.0	.	4;76	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	N	76;4;76	ENSP00000407822:H76N;ENSP00000442791:H4N;ENSP00000341882:H76N	ENSP00000341882:H76N	H	+	1	0	CNTN6	1244545	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.342000	0.59341	2.720000	0.93068	0.557000	0.71058	CAC		PASS	0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		65	87	65	87	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36893661	36893661	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:36893661C>A	ENST00000429976.2	-	13	4840	c.4593G>T	c.(4591-4593)caG>caT	p.Q1531H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q981H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q981H|TRANK1_ENST00000463984.1_5'Flank	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1531							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.Q981H(2)|p.Q1531H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATTCAATGGGCTGAGTTTTCC	0.403																																						uc003cgj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(2941-2943)CAG>CAT		lupus brain antigen 1							72.0	66.0	68.0					3																	36893661		1858	4098	5956	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36893661C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4593G>T	3.37:g.36893661C>A	ENSP00000416168:p.Gln1531His						p.Q981H	NM_014831	NP_055646	O15050	TRNK1_HUMAN			4	3245	-			1531					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2943G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123073	0.56613	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81996	-1.56;-1.56;-1.56	5.49	2.72	0.32119	.	0.000000	0.49305	D	0.000150	D	0.84279	0.5437	L	0.34521	1.04	0.40204	D	0.977558	D	0.71674	0.998	D	0.76071	0.987	D	0.84054	0.0371	10	0.62326	D	0.03	.	9.8132	0.40835	0.0:0.6715:0.0:0.3285	.	1531	O15050	TRNK1_HUMAN	H	981;1531;981	ENSP00000416826:Q981H;ENSP00000416168:Q1531H;ENSP00000301807:Q981H	ENSP00000301807:Q981H	Q	-	3	2	TRANK1	36868665	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.085000	0.14912	0.816000	0.34421	0.650000	0.86243	CAG		PASS	0.403	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		21	27	21	27	---	---	---	---
TCAIM	285343	broad.mit.edu	37	3	44409198	44409198	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:44409198C>A	ENST00000342649.4	+	5	997	c.570C>A	c.(568-570)ctC>ctA	p.L190L	TCAIM_ENST00000417237.1_Silent_p.L190L	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	190						mitochondrion (GO:0005739)		p.L190L(1)									AAACAACTCTCACGTATGTAA	0.348																																						uc010him.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(568-570)CTC>CTA		hypothetical protein LOC285343 isoform 1							31.0	31.0	31.0					3																	44409198		2203	4300	6503	SO:0001819	synonymous_variant	285343					mitochondrion		g.chr3:44409198C>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.570C>A	3.37:g.44409198C>A						C3orf23_uc003cnd.3_Silent_p.L190L|C3orf23_uc003cne.3_Silent_p.L46L	p.L190L	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	5	815	+			190					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.570C>A	CCDS2712.1																																																																																				PASS	0.348	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		3	40	3	40	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542189	46542189	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:46542189C>A	ENST00000296142.3	+	2	1071	c.499C>A	c.(499-501)Cag>Aag	p.Q167K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	167					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.Q167K(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGGGCCCATACAGGTTACAAG	0.517																																						uc003cps.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(499-501)CAG>AAG		transmembrane protein 7							84.0	84.0	84.0					3																	46542189		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542189C>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.499C>A	3.37:g.46542189C>A	ENSP00000296142:p.Gln167Lys						p.Q167K	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	567	+			167			Cytoplasmic (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.499C>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410081	0.01145	.	.	ENSG00000163825	ENST00000296142	T	0.17370	2.28	2.32	1.39	0.22231	.	22.261600	0.00166	N	0.000000	T	0.10423	0.0255	N	0.19112	0.55	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.26467	-1.0102	10	0.02654	T	1	8.6266	6.7038	0.23240	0.5098:0.4902:0.0:0.0	.	167	Q9BQQ7	RTP3_HUMAN	K	167	ENSP00000296142:Q167K	ENSP00000296142:Q167K	Q	+	1	0	RTP3	46517193	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.394000	0.07296	0.498000	0.27948	0.462000	0.41574	CAG		PASS	0.517	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		42	45	42	45	---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49050270	49050270	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:49050270C>T	ENST00000608424.1	+	2	1342	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.P465S|WDR6_ENST00000448293.1_Missense_Mutation_p.P384S|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	435					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P435S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GACCCTGTTTCCTGGGAAGGT	0.592																																						uc003cvj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1393-1395)CCT>TCT		WD repeat domain 6 protein							66.0	50.0	56.0					3																	49050270		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050270C>T	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1303C>T	3.37:g.49050270C>T	ENSP00000477389:p.Pro435Ser					WDR6_uc011bbx.1_Missense_Mutation_p.P336S|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.P409S|WDR6_uc011bbz.1_Missense_Mutation_p.P384S	p.P465S	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1531	+			435			WD 7.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	C	2.707	-0.269708	0.05716	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.56941	0.43;2.24	5.4	1.12	0.20585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	1.381220	0.04049	N	0.304373	T	0.23451	0.0567	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.31696	-0.9934	10	0.09843	T	0.71	3.0621	3.9469	0.09352	0.2443:0.469:0.2053:0.0814	.	306;435;384	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	S	465;384	ENSP00000378857:P465S;ENSP00000413432:P384S	ENSP00000378857:P465S	P	+	1	0	WDR6	49025274	0.001000	0.12720	0.460000	0.27093	0.945000	0.59286	0.329000	0.19698	1.218000	0.43458	0.561000	0.74099	CCT		PASS	0.592	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			14	19	14	19	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53783447	53783447	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:53783447A>G	ENST00000350061.5	+	27	3978	c.3467A>G	c.(3466-3468)cAg>cGg	p.Q1156R	CACNA1D_ENST00000540742.1_Missense_Mutation_p.Q63R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.Q1156R|CACNA1D_ENST00000288139.4_Missense_Mutation_p.Q1176R	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1156	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Q1176R(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTACATTTCAGGAACAAGGA	0.428																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3466-3468)CAG>CGG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						124.0	113.0	117.0					3																	53783447		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783447A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3467A>G	3.37:g.53783447A>G	ENSP00000288133:p.Gln1156Arg					CACNA1D_uc003dgu.3_Missense_Mutation_p.Q1176R|CACNA1D_uc003dgy.3_Missense_Mutation_p.Q1156R|CACNA1D_uc003dgw.3_Missense_Mutation_p.Q823R|CACNA1D_uc003dgx.1_Missense_Mutation_p.Q304R	p.Q1156R	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	27	3630	+			1156			Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3467A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229275	0.79688	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.32	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	L	0.54323	1.7	0.80722	D	1	B;B;B;P;B	0.51057	0.002;0.018;0.115;0.941;0.019	B;B;B;P;B	0.51016	0.004;0.041;0.094;0.656;0.014	D	0.97027	0.9747	10	0.44086	T	0.13	.	15.5755	0.76380	1.0:0.0:0.0:0.0	.	1156;63;849;1156;1176	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	R	1156;1176;1156;849;63	ENSP00000288133:Q1156R;ENSP00000288139:Q1176R;ENSP00000409174:Q1156R;ENSP00000418014:Q849R;ENSP00000438229:Q63R	ENSP00000288139:Q1176R	Q	+	2	0	CACNA1D	53758487	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.489000	0.81451	2.281000	0.76405	0.533000	0.62120	CAG		PASS	0.428	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		3	94	3	94	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706460	96706460	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:96706460C>A	ENST00000389672.5	+	3	775	c.737C>A	c.(736-738)gCt>gAt	p.A246D	EPHA6_ENST00000542517.1_Missense_Mutation_p.A152D|EPHA6_ENST00000470610.2_Missense_Mutation_p.A246D	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	152						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.A152D(2)|p.A246D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACACAATTGCTGCTGATGAG	0.398																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(736-738)GCT>GAT		EPH receptor A6 isoform a							185.0	189.0	188.0					3																	96706460		1882	4139	6021	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706460C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.737C>A	3.37:g.96706460C>A	ENSP00000374323:p.Ala246Asp					EPHA6_uc003drp.1_Missense_Mutation_p.A246D	p.A246D	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	780	+			151			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.737C>A	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.704851|4.704851	0.88924|0.88924	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.08008|.	3.14;3.14;3.14|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	U|.	0.000003|.	D|.	0.87525|.	0.6199|.	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|.	0.90409|.	0.4408|.	10|.	0.87932|.	D|.	0|.	.|.	18.9233|18.9233	0.92534|0.92534	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	246;246|.	B3KS12;E7EU71|.	.;.|.	D|X	246;246;152|190	ENSP00000420598:A246D;ENSP00000374323:A246D;ENSP00000439758:A152D|.	ENSP00000374323:A246D|.	A|C	+|+	2|3	0|2	EPHA6|EPHA6	98189150|98189150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GCT|TGC		PASS	0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		83	522	83	522	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706479	96706479	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:96706479C>A	ENST00000389672.5	+	3	794	c.756C>A	c.(754-756)acC>acA	p.T252T	EPHA6_ENST00000542517.1_Silent_p.T158T|EPHA6_ENST00000470610.2_Silent_p.T252T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	158						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.T158T(2)|p.T252T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAGTTTTACCCAGATGGATT	0.398																																						uc010how.1																			3	Substitution - coding silent(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(754-756)ACC>ACA		EPH receptor A6 isoform a							191.0	196.0	194.0					3																	96706479		1889	4132	6021	SO:0001819	synonymous_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706479C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.756C>A	3.37:g.96706479C>A						EPHA6_uc003drp.1_Silent_p.T252T	p.T252T	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	799	+			157			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Silent	SNP	ENST00000389672.5	37	c.756C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573352	0.13623	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.48	2.58	0.30949	.	.	.	.	.	T	0.47116	0.1428	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32107	-0.9919	4	.	.	.	.	4.2052	0.10485	0.2705:0.4967:0.0:0.2329	.	.	.	.	T	197	.	.	P	+	1	0	EPHA6	98189169	0.783000	0.28701	1.000000	0.80357	0.998000	0.95712	-0.152000	0.10159	0.653000	0.30826	0.655000	0.94253	CCA		PASS	0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		84	542	84	542	---	---	---	---
OR5K4	403278	broad.mit.edu	37	3	98073466	98073466	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:98073466A>T	ENST00000354924.2	+	1	769	c.769A>T	c.(769-771)Atg>Ttg	p.M257L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M257L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTGTCTTCTCATGTATATTGG	0.353																																						uc011bgv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(769-771)ATG>TTG		olfactory receptor, family 5, subfamily K,							120.0	118.0	119.0					3																	98073466		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073466A>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.769A>T	3.37:g.98073466A>T	ENSP00000347003:p.Met257Leu						p.M257L	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	769	+			257			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.769A>T	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	9.930	1.214690	0.22289	.	.	ENSG00000196098	ENST00000354924	T	0.00115	8.71	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001416	T	0.00178	0.0005	L	0.56340	1.77	0.27400	N	0.954864	B	0.17038	0.02	B	0.20384	0.029	T	0.26643	-1.0097	10	0.87932	D	0	-9.0518	8.8588	0.35245	0.8107:0.1893:0.0:0.0	.	257	A6NMS3	OR5K4_HUMAN	L	257	ENSP00000347003:M257L	ENSP00000347003:M257L	M	+	1	0	OR5K4	99556156	0.281000	0.24258	1.000000	0.80357	0.363000	0.29612	0.706000	0.25690	2.134000	0.65973	0.438000	0.28831	ATG		PASS	0.353	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			77	395	77	395	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105586391	105586391	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:105586391C>G	ENST00000264122.4	-	2	352	c.31G>C	c.(31-33)Ggt>Cgt	p.G11R	CBLB_ENST00000394027.3_Missense_Mutation_p.G33R|CBLB_ENST00000403724.1_Missense_Mutation_p.G11R|CBLB_ENST00000405772.1_Missense_Mutation_p.G11R|CBLB_ENST00000545639.1_Missense_Mutation_p.G33R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	11					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G11R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCTCGACCACCAGGGTTTCTG	0.413			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(31-33)GGT>CGT		Cas-Br-M (murine) ecotropic retroviral							80.0	78.0	79.0					3																	105586391		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105586391C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.31G>C	3.37:g.105586391C>G	ENSP00000264122:p.Gly11Arg					CBLB_uc011bhi.1_Missense_Mutation_p.G33R|CBLB_uc003dwd.1_Missense_Mutation_p.G11R|CBLB_uc003dwe.1_Missense_Mutation_p.G11R|CBLB_uc011bhj.1_RNA	p.G11R	NM_170662	NP_733762	Q13191	CBLB_HUMAN			2	353	-			11					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.31G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064744	0.55432	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	D;D;D;D	0.85258	-1.94;-1.91;-1.93;-1.96	5.24	5.24	0.73138	.	0.060227	0.64402	D	0.000004	D	0.86146	0.5863	N	0.12182	0.205	0.46798	D	0.999202	D;D;D	0.89917	0.997;0.979;1.0	D;P;D	0.85130	0.916;0.801;0.997	D	0.89255	0.3593	10	0.87932	D	0	-16.2981	17.6026	0.88029	0.0:1.0:0.0:0.0	.	33;11;11	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	R	11;33;11;11;33;33;11;11	ENSP00000264122:G11R;ENSP00000377595:G33R;ENSP00000384816:G11R;ENSP00000384938:G11R	ENSP00000264122:G11R	G	-	1	0	CBLB	107069081	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.855000	0.62925	2.456000	0.83038	0.557000	0.71058	GGT		PASS	0.413	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		111	174	111	174	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108572578	108572578	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:108572578C>A	ENST00000295756.6	+	6	645	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	TRAT1_ENST00000426646.1_Missense_Mutation_p.Q102K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	139					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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Q139K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGGAGATGAGCAACTACATGC	0.458																																						uc003dxi.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	skin(1)	1						c.(415-417)CAA>AAA		T-cell receptor interacting molecule							108.0	96.0	100.0					3																	108572578		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572578C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.415C>A	3.37:g.108572578C>A	ENSP00000295756:p.Gln139Lys					TRAT1_uc010hpx.1_Missense_Mutation_p.Q102K	p.Q139K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	559	+			139			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.415C>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	5.593	0.294241	0.10567	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35048	1.33;1.59	5.6	3.57	0.40892	.	0.797910	0.11539	N	0.553911	T	0.31918	0.0812	L	0.53249	1.67	0.09310	N	1	B;B	0.22909	0.077;0.017	B;B	0.23275	0.045;0.018	T	0.22906	-1.0203	10	0.18276	T	0.48	-6.3522	9.4608	0.38783	0.1684:0.6862:0.1453:0.0	.	102;139	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	K	139;102	ENSP00000295756:Q139K;ENSP00000410097:Q102K	ENSP00000295756:Q139K	Q	+	1	0	TRAT1	110055268	0.002000	0.14202	0.006000	0.13384	0.002000	0.02628	1.299000	0.33424	1.326000	0.45319	0.643000	0.83706	CAA		PASS	0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		17	142	17	142	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108723703	108723703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:108723703C>T	ENST00000483760.1	-	19	2026	c.1983G>A	c.(1981-1983)tgG>tgA	p.W661*	MORC1_ENST00000232603.5_Nonsense_Mutation_p.W682*					MORC family CW-type zinc finger 1									p.W682*(1)|p.W682C(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGAGCTCTCCAGACAGTGG	0.368																																						uc003dxl.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)|skin(3)|breast(2)	8						c.(2044-2046)TGG>TGA		MORC family CW-type zinc finger 1							166.0	185.0	179.0					3																	108723703		2203	4300	6503	SO:0001587	stop_gained	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108723703C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1983G>A	3.37:g.108723703C>T	ENSP00000417282:p.Trp661*					MORC1_uc011bhn.1_Nonsense_Mutation_p.W661*	p.W682*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			20	2133	-			682						Nonsense_Mutation	SNP	ENST00000483760.1	37	c.2046G>A		.	.	.	.	.	.	.	.	.	.	C	17.56	3.420115	0.62622	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	3.14	0.0123	0.14091	.	0.562152	0.13558	U	0.378968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	6.573	1.6458	0.02761	0.2133:0.4509:0.2084:0.1274	.	.	.	.	X	682;661	.	ENSP00000232603:W682X	W	-	3	0	MORC1	110206393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.251000	0.18257	-0.008000	0.14320	0.305000	0.20034	TGG		PASS	0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			298	452	298	452	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119134230	119134230	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:119134230G>T	ENST00000264245.4	+	12	3986	c.3454G>T	c.(3454-3456)Gca>Tca	p.A1152S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1152					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.A1152S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTACTGTAAAGCAGACCCCTG	0.537																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3454-3456)GCA>TCA		Cdc42 GTPase-activating protein							67.0	66.0	66.0					3																	119134230		1911	4113	6024	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134230G>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3454G>T	3.37:g.119134230G>T	ENSP00000264245:p.Ala1152Ser						p.A1152S	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3986	+			1152					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3454G>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005854	0.54254	.	.	ENSG00000031081	ENST00000264245	T	0.07114	3.22	5.65	5.65	0.86999	.	0.513245	0.17625	N	0.167608	T	0.08582	0.0213	L	0.36672	1.1	0.29756	N	0.835919	B	0.32245	0.361	B	0.26969	0.075	T	0.04976	-1.0914	10	0.62326	D	0.03	.	14.4815	0.67587	0.0:0.1464:0.8536:0.0	.	1152	Q2M1Z3	RHG31_HUMAN	S	1152	ENSP00000264245:A1152S	ENSP00000264245:A1152S	A	+	1	0	ARHGAP31	120616920	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	3.942000	0.56614	2.941000	0.99782	0.655000	0.94253	GCA		PASS	0.537	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			10	149	10	149	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120357315	120357315	+	Silent	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:120357315A>C	ENST00000283871.5	-	12	1452	c.993T>G	c.(991-993)ccT>ccG	p.P331P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	331					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.P331P(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTAATAAGGAGGCCTGAAGG	0.478																																						uc003edw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(991-993)CCT>CCG		homogentisate 1,2-dioxygenase							117.0	116.0	116.0					3																	120357315		2203	4296	6499	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120357315A>C		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.993T>G	3.37:g.120357315A>C						HGD_uc003edv.2_Silent_p.P190P	p.P331P	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	12	1363	-			331					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.993T>G	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201563	0.22121	.	.	ENSG00000113924	ENST00000494453	.	.	.	5.36	4.21	0.49690	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	-7.602	2.3312	0.04236	0.6027:0.1603:0.0833:0.1537	.	.	.	.	R	138	.	.	L	-	2	0	HGD	121840005	0.969000	0.33509	1.000000	0.80357	0.991000	0.79684	0.152000	0.16302	1.054000	0.40438	0.460000	0.39030	CTC		PASS	0.478	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			101	165	101	165	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134644715	134644715	+	Missense_Mutation	SNP	C	C	A	rs556035012		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:134644715C>A	ENST00000398015.3	+	2	486	c.116C>A	c.(115-117)gCg>gAg	p.A39E	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	39	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.A39E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCAATCCTGCGTCCGGGGTG	0.463																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(115-117)GCG>GAG		ephrin receptor EphB1 precursor							68.0	73.0	71.0					3																	134644715		1919	4124	6043	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134644715C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.116C>A	3.37:g.134644715C>A	ENSP00000381097:p.Ala39Glu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A39E	p.A39E	NM_004441	NP_004432	P54762	EPHB1_HUMAN			2	336	+			39			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.116C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	2.387	-0.340811	0.05243	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9	4.33	4.33	0.51752	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.735466	0.12677	N	0.448279	T	0.02418	0.0074	N	0.04746	-0.17	0.80722	D	1	B;B	0.32620	0.248;0.378	B;B	0.32211	0.097;0.142	T	0.52823	-0.8524	10	0.07325	T	0.83	.	17.0176	0.86423	0.0:1.0:0.0:0.0	.	39;39	B5A969;P54762	.;EPHB1_HUMAN	E	17;39;17;17;17	ENSP00000417435:A17E;ENSP00000381097:A39E;ENSP00000419688:A17E;ENSP00000417216:A17E;ENSP00000418352:A17E	ENSP00000381097:A39E	A	+	2	0	EPHB1	136127405	0.284000	0.24287	0.338000	0.25549	0.596000	0.36781	5.278000	0.65592	2.253000	0.74438	0.555000	0.69702	GCG		PASS	0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		12	32	12	32	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137893470	137893470	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:137893470G>A	ENST00000260803.4	-	1	321	c.168C>T	c.(166-168)ccC>ccT	p.P56P	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	56					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.P56P(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GACGATACTTGGGCGGCACGG	0.692																																						uc003erv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CCC>CCT		debranching enzyme homolog 1							29.0	26.0	27.0					3																	137893470		2202	4298	6500	SO:0001819	synonymous_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137893470G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.168C>T	3.37:g.137893470G>A						DBR1_uc003eru.2_Silent_p.P5P	p.P56P	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			1	304	-			56					Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	c.168C>T	CCDS33863.1																																																																																				PASS	0.692	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			8	29	8	29	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140401982	140401982	+	Silent	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:140401982C>G	ENST00000286349.3	+	2	1211	c.1020C>G	c.(1018-1020)gcC>gcG	p.A340A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	340						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A340A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTTCAGCGCCATCGCCAAGT	0.532																																						uc003eto.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1018-1020)GCC>GCG		tripartite motif-containing 42							119.0	112.0	114.0					3																	140401982		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401982C>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1020C>G	3.37:g.140401982C>G							p.A340A	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	1211	+			340					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1020C>G	CCDS3113.1																																																																																				PASS	0.532	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		4	187	4	187	---	---	---	---
ATR	545	broad.mit.edu	37	3	142178192	142178192	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:142178192C>G	ENST00000350721.4	-	43	7347	c.7226G>C	c.(7225-7227)tGt>tCt	p.C2409S	ATR_ENST00000383101.3_Missense_Mutation_p.C2345S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2409	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C2409S(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGGTAGCATACACTGGCGAAG	0.398								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(7225-7227)TGT>TCT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							65.0	63.0	64.0					3																	142178192		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142178192C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7226G>C	3.37:g.142178192C>G	ENSP00000343741:p.Cys2409Ser					ATR_uc003euy.1_Missense_Mutation_p.C295S	p.C2409S	NM_001184	NP_001175	Q13535	ATR_HUMAN			43	7348	-			2409			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7226G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286566	0.23478	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.74209	-0.82;-0.82	4.58	4.58	0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.220246	0.49305	D	0.000159	T	0.61615	0.2361	L	0.31664	0.95	0.41646	D	0.989107	B	0.32101	0.356	B	0.33960	0.173	T	0.59172	-0.7504	10	0.22109	T	0.4	-5.9449	11.7777	0.51995	0.0:0.9047:0.0:0.0953	.	2409	Q13535	ATR_HUMAN	S	2409;2345	ENSP00000343741:C2409S;ENSP00000372581:C2345S	ENSP00000343741:C2409S	C	-	2	0	ATR	143660882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.986000	0.56937	2.265000	0.75225	0.491000	0.48974	TGT		PASS	0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		31	173	31	173	---	---	---	---
ATR	545	broad.mit.edu	37	3	142257406	142257406	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:142257406C>A	ENST00000350721.4	-	19	3764	c.3643G>T	c.(3643-3645)Gta>Tta	p.V1215L	ATR_ENST00000383101.3_Missense_Mutation_p.V1151L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1215					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V1215L(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTACTATTACATGACTGAGA	0.388								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(3643-3645)GTA>TTA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							96.0	98.0	97.0					3																	142257406		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142257406C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3643G>T	3.37:g.142257406C>A	ENSP00000343741:p.Val1215Leu						p.V1215L	NM_001184	NP_001175	Q13535	ATR_HUMAN			19	3765	-			1215					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3643G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683208	0.68157	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.42513	0.97;0.97	5.64	5.64	0.86602	UME (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.40543	1.245	0.80722	D	1	P	0.43701	0.815	P	0.45343	0.477	T	0.23190	-1.0195	10	0.40728	T	0.16	-15.6091	19.6944	0.96019	0.0:1.0:0.0:0.0	.	1215	Q13535	ATR_HUMAN	L	1215;1151	ENSP00000343741:V1215L;ENSP00000372581:V1151L	ENSP00000343741:V1215L	V	-	1	0	ATR	143740096	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.764000	0.62264	2.660000	0.90430	0.491000	0.48974	GTA		PASS	0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		110	168	110	168	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147120521	147120521	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:147120521C>T	ENST00000383075.3	-	2	576	c.64G>A	c.(64-66)Gag>Aag	p.E22K	ZIC4_ENST00000525172.2_Missense_Mutation_p.E72K|ZIC4_ENST00000425731.3_Missense_Mutation_p.E60K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E22K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E22K|ZIC4_ENST00000473123.1_Missense_Mutation_p.E22K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	22						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E22K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTACTTGACTCTTTAAGAGTG	0.343																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(64-66)GAG>AAG		zinc finger protein of the cerebellum 4							139.0	127.0	131.0					3																	147120521		1842	4085	5927	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147120521C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.64G>A	3.37:g.147120521C>T	ENSP00000372553:p.Glu22Lys					ZIC4_uc011bno.1_Missense_Mutation_p.E72K	p.E22K	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			2	337	-			22					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.64G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257548	0.59321	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T;T	0.11712	2.9;2.81;2.78;2.9;2.9;2.85;2.75	6.06	6.06	0.98353	.	0.317042	0.21940	N	0.066900	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	B;B	0.25351	0.124;0.003	B;B	0.26614	0.071;0.004	T	0.32798	-0.9893	10	0.44086	T	0.13	.	6.5277	0.22310	0.0:0.6947:0.1616:0.1437	.	72;22	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	K	22;60;72;22;22;22;22;22;22	ENSP00000372553:E22K;ENSP00000397695:E60K;ENSP00000435509:E72K;ENSP00000417855:E22K;ENSP00000420775:E22K;ENSP00000418277:E22K;ENSP00000420627:E22K	ENSP00000372553:E22K	E	-	1	0	ZIC4	148603211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.399000	0.44495	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.343	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			141	242	141	242	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128383	147128383	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:147128383C>A	ENST00000282928.4	+	1	1213	c.484C>A	c.(484-486)Cag>Aag	p.Q162K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	162					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q162K(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGTCAACGGGCAGATGAGGCT	0.711																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(484-486)CAG>AAG		zinc finger protein of the cerebellum 1							21.0	26.0	24.0					3																	147128383		2199	4293	6492	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128383C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.484C>A	3.37:g.147128383C>A	ENSP00000282928:p.Gln162Lys						p.Q162K	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1203	+			162					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.484C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542200	0.85917	.	.	ENSG00000152977	ENST00000282928	T	0.57436	0.4	3.34	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.80616	2.505	0.80722	D	1	D	0.53462	0.96	D	0.71656	0.974	T	0.78797	-0.2063	10	0.87932	D	0	.	15.1964	0.73092	0.0:1.0:0.0:0.0	.	162	Q15915	ZIC1_HUMAN	K	162	ENSP00000282928:Q162K	ENSP00000282928:Q162K	Q	+	1	0	ZIC1	148611073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.631000	0.67812	1.878000	0.54408	0.542000	0.68232	CAG		PASS	0.711	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		7	10	7	10	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128470	147128470	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:147128470G>T	ENST00000282928.4	+	1	1300	c.571G>T	c.(571-573)Gcg>Tcg	p.A191S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	191					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A191S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCACTATGCTGCGCCGCAGCT	0.662																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(571-573)GCG>TCG		zinc finger protein of the cerebellum 1							40.0	43.0	42.0					3																	147128470		2203	4299	6502	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128470G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.571G>T	3.37:g.147128470G>T	ENSP00000282928:p.Ala191Ser						p.A191S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1290	+			191					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.571G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	5.351	0.250103	0.10130	.	.	ENSG00000152977	ENST00000282928	T	0.54279	0.58	3.31	2.32	0.28847	.	0.140871	0.49916	D	0.000137	T	0.23727	0.0574	N	0.05351	-0.065	0.33485	D	0.587944	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	10	0.02654	T	1	.	8.5799	0.33621	0.0:0.0:0.5111:0.4889	.	191	Q15915	ZIC1_HUMAN	S	191	ENSP00000282928:A191S	ENSP00000282928:A191S	A	+	1	0	ZIC1	148611160	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	3.262000	0.51538	1.847000	0.53656	0.549000	0.68633	GCG		PASS	0.662	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		37	68	37	68	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179426630	179426630	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:179426630G>T	ENST00000263966.3	+	6	1161	c.690G>T	c.(688-690)ctG>ctT	p.L230L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L165L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	230					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L230L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCTCTGTCCTGTGTGGAAAGT	0.537																																						uc003fkh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(688-690)CTG>CTT		ubiquitin thiolesterase 13							180.0	161.0	167.0					3																	179426630		2203	4300	6503	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179426630G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.690G>T	3.37:g.179426630G>T						USP13_uc003fkf.2_Silent_p.L230L	p.L230L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		6	771	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		230			UBP-type.		A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.690G>T	CCDS3235.1																																																																																				PASS	0.537	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			109	191	109	191	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183885468	183885468	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:183885468G>T	ENST00000313143.3	+	12	1547	c.1299G>T	c.(1297-1299)tgG>tgT	p.W433C	DVL3_ENST00000431765.1_Missense_Mutation_p.W416C|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	433	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.		W -> L (in dbSNP:rs17853048). {ECO:0000269|PubMed:15489334}.		canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.W433C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ACCGCATGTGGCTCAAGATTA	0.597																																						uc003fms.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1297-1299)TGG>TGT		dishevelled 3							98.0	82.0	87.0					3																	183885468		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183885468G>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1299G>T	3.37:g.183885468G>T	ENSP00000316054:p.Trp433Cys					DVL3_uc011bqw.1_Missense_Mutation_p.W416C|DVL3_uc003fmt.2_Missense_Mutation_p.W104C|DVL3_uc003fmu.2_Missense_Mutation_p.W265C	p.W433C	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		12	1439	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		433			DEP.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1299G>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226888	0.79576	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.15487	2.42;2.42	5.97	5.97	0.96955	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.55405	-0.8146	10	0.87932	D	0	-1.5523	20.4387	0.99107	0.0:0.0:1.0:0.0	.	416;265;433;433	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	C	433;433;416	ENSP00000316054:W433C;ENSP00000405885:W416C	ENSP00000316054:W433C	W	+	3	0	DVL3	185368162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TGG		PASS	0.597	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		49	104	49	104	---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185979515	185979515	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:185979515G>T	ENST00000265022.3	-	15	1861	c.1322C>A	c.(1321-1323)cCc>cAc	p.P441H	DGKG_ENST00000544847.1_Missense_Mutation_p.P382H|DGKG_ENST00000382164.4_Missense_Mutation_p.P402H|DGKG_ENST00000344484.4_Missense_Mutation_p.P441H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	441	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P441H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCACTCTTGGGGTTCACCAA	0.512																																						uc003fqa.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1321-1323)CCC>CAC		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						34.0	28.0	30.0					3																	185979515		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185979515G>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1322C>A	3.37:g.185979515G>T	ENSP00000265022:p.Pro441His					DGKG_uc003fqb.2_Missense_Mutation_p.P402H|DGKG_uc003fqc.2_Missense_Mutation_p.P441H|DGKG_uc011brx.1_Missense_Mutation_p.P382H	p.P441H	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	15	1859	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		441			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1322C>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800560	0.90538	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.58210	1.3;0.35;1.3;1.3	5.52	5.52	0.82312	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.998;1.0;1.0	D	0.87728	0.2577	10	0.87932	D	0	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	382;441;402;441	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	H	441;441;402;382;405	ENSP00000265022:P441H;ENSP00000339777:P441H;ENSP00000371599:P402H;ENSP00000440507:P382H	ENSP00000265022:P441H	P	-	2	0	DGKG	187462209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.635000	0.74295	2.590000	0.87494	0.563000	0.77884	CCC		PASS	0.512	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			15	18	15	18	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4303783	4303783	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:4303783G>T	ENST00000337872.4	+	3	341	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.G74C	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.G74C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AAATGTCAGTGGCATAGGGCA	0.398																																						uc003ghu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(220-222)GGC>TGC		zinc finger protein 509							113.0	104.0	107.0					4																	4303783		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4303783G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.220G>T	4.37:g.4303783G>T	ENSP00000338807:p.Gly74Cys					ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	p.G74C	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			3	395	+			74			BTB.		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.220G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814499	0.90790	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.67698	-0.28;-0.28;-0.28	5.38	5.38	0.77491	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000018	D	0.83083	0.5177	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84692	0.0723	10	0.87932	D	0	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	74	Q6ZSB9	ZBT49_HUMAN	C	74	ENSP00000348091:G74C;ENSP00000338807:G74C;ENSP00000425747:G74C	ENSP00000338807:G74C	G	+	1	0	ZBTB49	4354684	1.000000	0.71417	0.989000	0.46669	0.914000	0.54420	9.574000	0.98184	2.698000	0.92095	0.585000	0.79938	GGC		PASS	0.398	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		49	54	49	54	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060535	46060535	+	Silent	SNP	G	G	T	rs142799145		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:46060535G>T	ENST00000295452.4	-	6	897	c.730C>A	c.(730-732)Cgg>Agg	p.R244R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	244					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R244R(1)|p.R244W(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTGAGTTCCGTAACCCTACA	0.333																																						uc003gxb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|prostate(1)	ovary(2)	2						c.(730-732)CGG>AGG		gamma-aminobutyric acid A receptor, gamma 1							91.0	88.0	89.0					4																	46060535		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060535G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.730C>A	4.37:g.46060535G>T							p.R244R	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	882	-			244			Extracellular (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.730C>A	CCDS3470.1																																																																																				PASS	0.333	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		36	50	36	50	---	---	---	---
NMU	10874	broad.mit.edu	37	4	56471492	56471492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:56471492G>A	ENST00000264218.3	-	7	490	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	NMU_ENST00000505262.1_Nonsense_Mutation_p.Q102*|NMU_ENST00000507338.1_Intron|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000511469.1_Nonsense_Mutation_p.Q113*	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	129					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)	p.Q129*(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GGAACGAGCTGCAGCAACGGA	0.498																																						uc003hbc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(385-387)CAG>TAG		neuromedin U precursor							171.0	149.0	157.0					4																	56471492		2203	4300	6503	SO:0001587	stop_gained	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56471492G>A	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.385C>T	4.37:g.56471492G>A	ENSP00000264218:p.Gln129*					NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Nonsense_Mutation_p.Q44*|NMU_uc010igx.1_Intron	p.Q129*	NM_006681	NP_006672	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	7	491	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	129						Nonsense_Mutation	SNP	ENST00000264218.3	37	c.385C>T	CCDS3501.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706743	0.48412	.	.	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.0774	14.6364	0.68692	0.0:0.0:0.8538:0.1462	.	.	.	.	X	113;129;102;112	.	ENSP00000264218:Q129X	Q	-	1	0	NMU	56166249	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	4.906000	0.63293	2.823000	0.97156	0.644000	0.83932	CAG		PASS	0.498	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			66	95	66	95	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62598642	62598642	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:62598642G>T	ENST00000514591.1	+	7	894	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	LPHN3_ENST00000514157.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D189Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D257Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.D189Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	189	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.D189Y(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCATCCAAGGATGACTTCAT	0.473																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(565-567)GAT>TAT		latrophilin 3 precursor							79.0	75.0	76.0					4																	62598642		1921	4125	6046	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598642G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.565G>T	4.37:g.62598642G>T	ENSP00000422533:p.Asp189Tyr					LPHN3_uc003hcq.3_Missense_Mutation_p.D189Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D257Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D18Y	p.D189Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	738	+			189			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.565G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777172	0.49786	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.4	5.4	0.78164	.	0.051614	0.85682	D	0.000000	D	0.93828	0.8026	L	0.52364	1.645	0.48632	D	0.999686	D;D;P	0.65815	0.995;0.995;0.936	D;D;P	0.63283	0.913;0.913;0.667	D	0.94155	0.7409	10	0.87932	D	0	.	13.8483	0.63481	0.0:0.1529:0.8471:0.0	.	189;257;189	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Y	189;189;257;257;189;189;189;189;189;257;257;257;189;189;189;257;257;189	ENSP00000423388:D189Y;ENSP00000422533:D189Y;ENSP00000423787:D257Y;ENSP00000425033:D257Y;ENSP00000424120:D189Y;ENSP00000439831:D189Y;ENSP00000421476:D257Y;ENSP00000424030:D257Y;ENSP00000421372:D257Y;ENSP00000425201:D189Y;ENSP00000423434:D189Y;ENSP00000421627:D189Y;ENSP00000420931:D257Y;ENSP00000425884:D257Y;ENSP00000424258:D189Y	ENSP00000280009:D189Y	D	+	1	0	LPHN3	62281237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.884000	0.87274	2.546000	0.85860	0.557000	0.71058	GAT		PASS	0.473	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	64	4	64	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65145803	65145803	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:65145803G>A	ENST00000381210.3	-	12	1189	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	360					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.P360L(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAATATGAATGGAATCATTGC	0.274																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)CCA>CTA		steroid 5 alpha-reductase 2-like 2							35.0	37.0	36.0					4																	65145803		2178	4244	6422	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65145803G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.1079C>T	4.37:g.65145803G>A	ENSP00000370607:p.Pro360Leu					TECRL_uc010ihi.2_RNA	p.P360L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			12	1188	-			360						Missense_Mutation	SNP	ENST00000381210.3	37	c.1079C>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663671	0.67700	.	.	ENSG00000205678	ENST00000381210	T	0.69435	-0.4	5.09	5.09	0.68999	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85287	0.5662	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88588	0.3141	10	0.87932	D	0	-17.974	14.3347	0.66581	0.0:0.0:1.0:0.0	.	360	Q5HYJ1	TECRL_HUMAN	L	360	ENSP00000370607:P360L	ENSP00000370607:P360L	P	-	2	0	TECRL	64828398	1.000000	0.71417	0.997000	0.53966	0.678000	0.39670	5.265000	0.65519	2.516000	0.84829	0.650000	0.86243	CCA		PASS	0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		22	25	22	25	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89526980	89526980	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:89526980A>G	ENST00000402738.1	+	3	245	c.6A>G	c.(4-6)ttA>ttG	p.L2L	HERC3_ENST00000407637.1_Silent_p.L2L|HERC3_ENST00000264345.3_Silent_p.L2L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	2					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L2L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAACAATGTTATGTTGGGGAT	0.393																																						uc003hrw.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(4-6)TTA>TTG		hect domain and RLD 3							90.0	89.0	90.0					4																	89526980		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89526980A>G	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.6A>G	4.37:g.89526980A>G						HERC3_uc003hrv.2_Silent_p.L2L|HERC3_uc011cdn.1_Intron	p.L2L	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	3	172	+			2			RCC1 1.		A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.6A>G	CCDS34028.1																																																																																				PASS	0.393	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		34	45	34	45	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91389384	91389384	+	Splice_Site	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:91389384G>T	ENST00000509176.1	+	5	1891		c.e5-1		CCSER1_ENST00000432775.2_Splice_Site|CCSER1_ENST00000333691.8_Splice_Site	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1									p.?(3)									TTTTTGAACAGTTTGCCGGGA	0.363																																						uc003hsv.3																			3	Unknown(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.e5-1		KIAA1680 protein isoform 1							56.0	54.0	55.0					4																	91389384		1827	4086	5913	SO:0001630	splice_region_variant	401145							g.chr4:91389384G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1604-1G>T	4.37:g.91389384G>T						FAM190A_uc010ikv.2_Splice_Site|FAM190A_uc003hsw.2_Splice_Site_p.V535_splice	p.V535_splice	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			5	1944	+								Q4W5M0|Q86V57	Splice_Site	SNP	ENST00000509176.1	37	c.1604_splice	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836227	0.32421	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2528	0.73561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM190A	91608407	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	5.103000	0.64578	2.514000	0.84764	0.467000	0.42956	.		PASS	0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	Intron	14	23	14	23	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110864470	110864470	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:110864470G>A	ENST00000265171.5	+	3	833	c.388G>A	c.(388-390)Gtt>Att	p.V130I	EGF_ENST00000503392.1_Missense_Mutation_p.V130I|EGF_ENST00000509793.1_Missense_Mutation_p.V130I|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	130					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V130I(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAATGAAGAAGTTATTTGGTC	0.284																																						uc003hzy.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(388-390)GTT>ATT		epidermal growth factor precursor	Sulindac(DB00605)						70.0	76.0	74.0					4																	110864470		2201	4296	6497	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864470G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.388G>A	4.37:g.110864470G>A	ENSP00000265171:p.Val130Ile					EGF_uc011cfu.1_Missense_Mutation_p.V130I|EGF_uc011cfv.1_Missense_Mutation_p.V130I	p.V130I	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	840	+		Hepatocellular(203;0.0893)	130			LDL-receptor class B 2.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.388G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108711	0.06924	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.90563	-2.69;-2.69;-2.69	5.69	-2.84	0.05751	Six-bladed beta-propeller, TolB-like (1);	0.676218	0.15939	N	0.237263	T	0.63177	0.2489	N	0.01219	-0.95	0.27422	N	0.954263	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.003;0.006;0.003	T	0.62987	-0.6737	10	0.02654	T	1	.	2.832	0.05503	0.5141:0.1255:0.2659:0.0945	.	130;130;130	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	I	130	ENSP00000424316:V130I;ENSP00000265171:V130I;ENSP00000421384:V130I	ENSP00000265171:V130I	V	+	1	0	EGF	111083919	0.998000	0.40836	0.631000	0.29282	0.983000	0.72400	0.598000	0.24074	-0.776000	0.04578	-0.781000	0.03364	GTT		PASS	0.284	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			50	69	50	69	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123150382	123150382	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:123150382C>T	ENST00000264501.4	+	25	3402	c.3029C>T	c.(3028-3030)gCt>gTt	p.A1010V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1010V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1010V|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1010					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A1010V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CATGGTTGTGCTACAAATATA	0.348																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3028-3030)GCT>GTT		fragile site-associated protein							212.0	194.0	199.0					4																	123150382		1874	4119	5993	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123150382C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3029C>T	4.37:g.123150382C>T	ENSP00000264501:p.Ala1010Val					KIAA1109_uc003iei.1_Missense_Mutation_p.A763V|KIAA1109_uc010ins.1_Missense_Mutation_p.A353V	p.A1010V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			23	3074	+			1010					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3029C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166185	0.94768	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.49720	0.77;0.77;0.77	5.18	5.18	0.71444	.	0.461395	0.18077	U	0.152422	T	0.67599	0.2910	L	0.61387	1.9	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.65907	-0.6054	10	0.45353	T	0.12	.	19.0697	0.93127	0.0:1.0:0.0:0.0	.	1010	Q2LD37	K1109_HUMAN	V	1010	ENSP00000264501:A1010V;ENSP00000373390:A1010V;ENSP00000389925:A1010V	ENSP00000264501:A1010V	A	+	2	0	KIAA1109	123369832	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.601000	0.82783	2.545000	0.85829	0.561000	0.74099	GCT		PASS	0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		71	81	71	81	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123329103	123329103	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:123329103C>T	ENST00000296513.2	+	8	950	c.765C>T	c.(763-765)taC>taT	p.Y255Y	ADAD1_ENST00000388725.2_Silent_p.Y237Y|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Silent_p.Y255Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	255	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.Y255Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGGTGAATACAATTACAGCC	0.408																																						uc003ieo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)TAC>TAT		adenosine deaminase domain containing 1							123.0	113.0	116.0					4																	123329103		2203	4300	6503	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123329103C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.765C>T	4.37:g.123329103C>T						ADAD1_uc003iep.2_Silent_p.Y255Y|ADAD1_uc003ieq.2_Silent_p.Y237Y	p.Y255Y	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			8	997	+			255			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.765C>T	CCDS34058.1																																																																																				PASS	0.408	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		38	51	38	51	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146823589	146823589	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:146823589C>A	ENST00000508784.1	-	2	1049	c.822G>T	c.(820-822)ccG>ccT	p.P274P	ZNF827_ENST00000379448.4_Silent_p.P274P|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	274					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.P274P(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGAGCTGGCCGGTGGAGGGT	0.577																																						uc003ikn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(820-822)CCG>CCT		zinc finger protein 827							64.0	70.0	68.0					4																	146823589		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823589C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.822G>T	4.37:g.146823589C>A						ZNF827_uc003ikm.2_Silent_p.P274P|ZNF827_uc010iox.2_Intron	p.P274P	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	870	-	all_hematologic(180;0.151)		274					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.822G>T																																																																																					PASS	0.577	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		56	59	56	59	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149357300	149357300	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:149357300G>A	ENST00000358102.3	-	2	1075	c.713C>T	c.(712-714)tCc>tTc	p.S238F	NR3C2_ENST00000512865.1_Missense_Mutation_p.S238F|NR3C2_ENST00000511528.1_Missense_Mutation_p.S238F|NR3C2_ENST00000355292.3_Missense_Mutation_p.S238F|NR3C2_ENST00000344721.4_Missense_Mutation_p.S238F	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	238	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S238F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AACATTAGGGGAGCATGTCAG	0.537																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(712-714)TCC>TTC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						67.0	69.0	69.0					4																	149357300		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357300G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.713C>T	4.37:g.149357300G>A	ENSP00000350815:p.Ser238Phe					NR3C2_uc003ilk.3_Missense_Mutation_p.S238F|NR3C2_uc010iph.2_RNA	p.S238F	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1047	-	all_hematologic(180;0.151)		238			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.713C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558933	0.27827	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91124	-2.78;-2.79;-2.78;-2.37;-2.36;-2.79	4.86	4.86	0.63082	.	0.064051	0.64402	D	0.000003	D	0.90559	0.7041	L	0.27053	0.805	0.42157	D	0.991588	D;D	0.64830	0.969;0.994	P;P	0.58331	0.655;0.837	D	0.89801	0.3975	9	.	.	.	.	18.3401	0.90302	0.0:0.0:1.0:0.0	.	238;238	B0ZBF5;B0ZBF6	.;.	F	238	ENSP00000341390:S238F;ENSP00000347441:S238F;ENSP00000350815:S238F;ENSP00000423510:S238F;ENSP00000343907:S238F;ENSP00000421481:S238F	.	S	-	2	0	NR3C2	149576750	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.073000	0.93992	2.392000	0.81423	0.591000	0.81541	TCC		PASS	0.537	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			32	42	32	42	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158262492	158262492	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:158262492T>G	ENST00000264426.9	+	12	2200	c.1921T>G	c.(1921-1923)Tta>Gta	p.L641V	GRIA2_ENST00000507898.1_Missense_Mutation_p.L594V|GRIA2_ENST00000393815.2_Missense_Mutation_p.L594V|GRIA2_ENST00000296526.7_Missense_Mutation_p.L641V|GRIA2_ENST00000449365.1_Missense_Mutation_p.L594V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	641					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L641V(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CACGGCTAACTTAGCTGCCTT	0.448																																						uc003ipm.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(1921-1923)TTA>GTA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						185.0	178.0	181.0					4																	158262492		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158262492T>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1921T>G	4.37:g.158262492T>G	ENSP00000264426:p.Leu641Val					GRIA2_uc011cit.1_Missense_Mutation_p.L594V|GRIA2_uc003ipl.3_Missense_Mutation_p.L641V|GRIA2_uc003ipk.3_Missense_Mutation_p.L594V|GRIA2_uc010iqh.1_RNA	p.L641V	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	12	2380	+	all_hematologic(180;0.24)	Renal(120;0.0458)	641			Helical; (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1921T>G	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457015	0.63401	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.53	3.11	0.35812	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	D	0.88496	0.6452	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.992	D;D;D	0.91635	0.999;0.995;0.987	D	0.88009	0.2761	10	0.87932	D	0	.	8.9962	0.36055	0.0:0.2105:0.0:0.7895	.	641;641;594	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	V	594;594;641;641;594	ENSP00000426845:L594V;ENSP00000377403:L594V;ENSP00000296526:L641V;ENSP00000264426:L641V;ENSP00000389837:L594V	ENSP00000264426:L641V	L	+	1	2	GRIA2	158481942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.764000	0.26532	0.484000	0.27630	0.533000	0.62120	TTA		PASS	0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			4	212	4	212	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164394289	164394289	+	Missense_Mutation	SNP	C	C	T	rs372750871		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr4:164394289C>T	ENST00000280605.3	-	1	758	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	200						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A200T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGATGTCTGCGCCATGCTCA	0.522																																						uc003iqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(598-600)GCA>ACA		transketolase-like 2		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		598	-0.3	0.0	4		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TKTL2	NM_032136.4	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	200/627	164394289	2,13004	2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394289C>T	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.598G>A	4.37:g.164394289C>T	ENSP00000280605:p.Ala200Thr						p.A200T	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	759	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	200					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.598G>A	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361292	0.01235	2.27E-4	1.16E-4	ENSG00000151005	ENST00000280605	T	0.28895	1.59	4.03	-0.255	0.12988	Transketolase, N-terminal (1);	0.315461	0.29964	N	0.010743	T	0.04952	0.0133	N	0.00165	-1.945	0.22754	N	0.998772	B	0.06786	0.001	B	0.09377	0.004	T	0.41016	-0.9532	10	0.15499	T	0.54	-9.9503	4.695	0.12799	0.0:0.1901:0.1626:0.6473	.	200	Q9H0I9	TKTL2_HUMAN	T	200	ENSP00000280605:A200T	ENSP00000280605:A200T	A	-	1	0	TKTL2	164613739	0.936000	0.31750	0.036000	0.18154	0.007000	0.05969	0.509000	0.22707	0.022000	0.15160	-0.290000	0.09829	GCA		PASS	0.522	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		29	90	29	90	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5473764	5473764	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:5473764G>C	ENST00000296564.7	+	16	6538	c.6316G>C	c.(6316-6318)Ggt>Cgt	p.G2106R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2106					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.G2106R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGAAAAATTTGGTGAAGACCT	0.398																																						uc003jdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6316-6318)GGT>CGT		hypothetical protein LOC23379							57.0	54.0	55.0					5																	5473764		1864	4102	5966	SO:0001583	missense	23379							g.chr5:5473764G>C																												ENST00000296564.7:c.6316G>C	5.37:g.5473764G>C	ENSP00000296564:p.Gly2106Arg						p.G2106R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			16	6538	+			2106					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.6316G>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518309	0.85495	.	.	ENSG00000164151	ENST00000296564	T	0.15017	2.46	5.44	5.44	0.79542	.	.	.	.	.	T	0.41073	0.1143	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.17623	-1.0363	9	0.87932	D	0	-14.0014	16.7623	0.85515	0.0:0.0:1.0:0.0	.	2106	Q9Y2F5	K0947_HUMAN	R	2106	ENSP00000296564:G2106R	ENSP00000296564:G2106R	G	+	1	0	KIAA0947	5526764	1.000000	0.71417	0.835000	0.33067	0.995000	0.86356	8.552000	0.90682	2.562000	0.86427	0.655000	0.94253	GGT		PASS	0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			40	44	40	44	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487930	24487930	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:24487930C>T	ENST00000264463.4	-	12	2716	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	737					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A737T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTCATAGGCATAGGTTGCA	0.473										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2209-2211)GCC>ACC		cadherin 10, type 2 preproprotein							120.0	121.0	121.0					5																	24487930		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487930C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2209G>A	5.37:g.24487930C>T	ENSP00000264463:p.Ala737Thr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A737T	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2541	-			737			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2209G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321503	0.81580	.	.	ENSG00000040731	ENST00000264463	T	0.78707	-1.2	5.92	5.04	0.67666	Cadherin, cytoplasmic domain (1);	0.044140	0.85682	D	0.000000	D	0.90532	0.7033	M	0.92268	3.29	0.50467	D	0.999877	D	0.76494	0.999	D	0.73380	0.98	D	0.92818	0.6270	10	0.72032	D	0.01	.	16.0432	0.80698	0.0:0.8656:0.1344:0.0	.	737	Q9Y6N8	CAD10_HUMAN	T	737	ENSP00000264463:A737T	ENSP00000264463:A737T	A	-	1	0	CDH10	24523687	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	5.973000	0.70456	1.473000	0.48159	0.655000	0.94253	GCC		PASS	0.473	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		75	203	75	203	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31508727	31508727	+	Splice_Site	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:31508727C>A	ENST00000511367.2	-	9	1832		c.e9+1		DROSHA_ENST00000513349.1_Splice_Site|DROSHA_ENST00000344624.3_Splice_Site|DROSHA_ENST00000442743.1_Splice_Site|Y_RNA_ENST00000383955.1_RNA	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III						defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.?(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAAACACGCACCTGGCCTGGA	0.448																																						uc003jhg.2																			1	Unknown(1)		lung(1)		0						c.e9+1		ribonuclease III, nuclear isoform 1							135.0	128.0	130.0					5																	31508727		1941	4151	6092	SO:0001630	splice_region_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31508727C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1587+1G>T	5.37:g.31508727C>A						RNASEN_uc003jhh.2_Splice_Site_p.Q492_splice|RNASEN_uc003jhi.2_Splice_Site_p.Q492_splice|RNASEN_uc010iui.1_Splice_Site_p.Q452_splice	p.Q529_splice	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			9	1946	-								E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Splice_Site	SNP	ENST00000511367.2	37	c.1587_splice	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383989	0.82792	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512076	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DROSHA	31544484	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	7.487000	0.81328	2.660000	0.90430	0.655000	0.94253	.		PASS	0.448	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	Intron	65	128	65	128	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576935	33576935	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:33576935G>T	ENST00000504830.1	-	19	3531	c.3196C>A	c.(3196-3198)Cag>Aag	p.Q1066K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q981K|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1066	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q1066K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTGCCACTGTTTCCCACCC	0.547										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3196-3198)CAG>AAG		ADAM metallopeptidase with thrombospondin type 1							127.0	123.0	124.0					5																	33576935		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576935G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3196C>A	5.37:g.33576935G>T	ENSP00000422554:p.Gln1066Lys	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q981K	p.Q1066K	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3359	-			1066			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3196C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.797782	0.00617	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.46451	0.87;0.87	5.07	-4.94	0.03057	.	2.427880	0.01130	N	0.005970	T	0.17577	0.0422	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20174	-1.0283	10	0.05525	T	0.97	.	0.5912	0.00728	0.2794:0.1973:0.3139:0.2094	.	981;1066	P58397-3;P58397	.;ATS12_HUMAN	K	1066;981	ENSP00000422554:Q1066K;ENSP00000344847:Q981K	ENSP00000344847:Q981K	Q	-	1	0	ADAMTS12	33612692	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.078000	0.11375	-0.796000	0.04456	0.651000	0.88453	CAG		PASS	0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		60	92	60	92	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35875689	35875689	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:35875689A>T	ENST00000506850.1	+	6	869	c.782A>T	c.(781-783)aAg>aTg	p.K261M	IL7R_ENST00000303115.3_Splice_Site_p.K292N|IL7R_ENST00000343305.4_Splice_Site_p.K261I			P16871	IL7RA_HUMAN	interleukin 7 receptor	0					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.K292N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AACCAAGAAAAGTGAGTGTTT	0.413			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(874-876)AAA>AAT		interleukin 7 receptor precursor							83.0	81.0	81.0					5																	35875689		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875689A>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000506850.1:c.782A>T	5.37:g.35875689A>T	ENSP00000421207:p.Lys261Met					IL7R_uc011coo.1_Missense_Mutation_p.K261M|IL7R_uc011cop.1_RNA	p.K292N	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	965	+	all_lung(31;0.00015)		292			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000506850.1	37	c.876A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	a|a|a	18.04|18.04|18.04	3.534755|3.534755|3.534755	0.64972|0.64972|0.64972	.|.|.	.|.|.	ENSG00000168685|ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000505093|ENST00000506850|ENST00000303115;ENST00000505875	T|T|T;T	0.49720|0.50277|0.35421	0.77|0.75|1.86;1.31	5.77|5.77|5.77	2.08|2.08|2.08	0.27032|0.27032|0.27032	.|.|.	0.308479|0.308479|0.308479	0.37219|0.37219|0.37219	N|N|N	0.002190|0.002190|0.002190	T|T|T	0.22820|0.22820|0.22820	0.0551|0.0551|0.0551	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.25270|0.25270|0.25270	N|N|N	0.989524|0.989524|0.989524	.|P|B	.|0.34462|0.31077	.|0.454|0.307	.|B|B	.|0.37833|0.20767	.|0.259|0.031	T|T|T	0.17806|0.17806|0.17806	-1.0357|-1.0357|-1.0357	8|10|10	0.35671|0.87932|0.16896	T|D|T	0.21|0|0.51	-0.5511|-0.5511|-0.5511	8.0601|8.0601|8.0601	0.30627|0.30627|0.30627	0.3234:0.0:0.6766:0.0|0.3234:0.0:0.6766:0.0|0.3234:0.0:0.6766:0.0	.|.|.	.|261|292	.|D6RGV2|P16871	.|.|IL7RA_HUMAN	I|M|N	261;64|261|292;58	ENSP00000345819:K261I|ENSP00000421207:K261M|ENSP00000306157:K292N;ENSP00000420923:K58N	ENSP00000345819:K261I|ENSP00000421207:K261M|ENSP00000306157:K292N	K|K|K	+|+|+	2|2|3	0|0|2	IL7R|IL7R|IL7R	35911446|35911446|35911446	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.556000|0.556000|0.556000	0.35491|0.35491|0.35491	0.101000|0.101000|0.101000	0.15251|0.15251|0.15251	0.100000|0.100000|0.100000	0.17581|0.17581|0.17581	-0.242000|-0.242000|-0.242000	0.12053|0.12053|0.12053	AAA|AAG|AAA		PASS	0.413	IL7R-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000367184.1			23	86	23	86	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38489285	38489285	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:38489285A>T	ENST00000263409.4	-	16	2392	c.2230T>A	c.(2230-2232)Tgg>Agg	p.W744R	LIFR_ENST00000503088.1_5'Flank|LIFR_ENST00000453190.2_Missense_Mutation_p.W744R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	744	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.W744R(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTCTTCCCATTTTACTAAT	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2230-2232)TGG>AGG		leukemia inhibitory factor receptor precursor							73.0	72.0	72.0					5																	38489285		2203	4298	6501	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38489285A>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2230T>A	5.37:g.38489285A>T	ENSP00000263409:p.Trp744Arg					LIFR_uc003jli.2_Missense_Mutation_p.W744R	p.W744R	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			16	2562	-	all_lung(31;0.00021)		744			Fibronectin type-III 6.|Extracellular (Potential).		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2230T>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264505	0.80358	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	D;D	0.86297	-2.1;-2.1	5.78	5.78	0.91487	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.91717	3.235	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	D	0.95830	0.8857	10	0.87932	D	0	-9.6404	16.1215	0.81361	1.0:0.0:0.0:0.0	.	744	P42702	LIFR_HUMAN	R	744	ENSP00000263409:W744R;ENSP00000398368:W744R	ENSP00000263409:W744R	W	-	1	0	LIFR	38525042	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.334000	0.72944	2.208000	0.71279	0.528000	0.53228	TGG		PASS	0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		16	105	16	105	---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50683495	50683495	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:50683495A>T	ENST00000230658.7	+	3	975	c.390A>T	c.(388-390)cgA>cgT	p.R130R	ISL1_ENST00000511384.1_Silent_p.R130R|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	130	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.R130R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TCTTCTGCCGAGCAGACCACG	0.632																																						uc003jor.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(388-390)CGA>CGT		islet-1							50.0	53.0	52.0					5																	50683495		2091	4203	6294	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683495A>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.390A>T	5.37:g.50683495A>T							p.R130R	NM_002202	NP_002193	P61371	ISL1_HUMAN			3	938	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	130			LIM zinc-binding 2.		P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.390A>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810046	0.32053	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.53	-1.69	0.08186	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52917	-0.8511	5	0.87932	D	0	.	1.4351	0.02342	0.1891:0.3999:0.1789:0.2321	.	.	.	.	C	77	.	ENSP00000421737:S77C	S	+	1	0	ISL1	50719252	0.031000	0.19500	0.987000	0.45799	0.992000	0.81027	-0.933000	0.03959	0.000000	0.14550	0.454000	0.30748	AGC		PASS	0.632	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		28	33	28	33	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256748	63256748	+	Missense_Mutation	SNP	C	C	T	rs34158987		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:63256748C>T	ENST00000323865.3	-	1	1032	c.799G>A	c.(799-801)Gtg>Atg	p.V267M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	267					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.V267M(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TTGCTCTCCACGCCCAGCCTC	0.667																																						uc011cqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(799-801)GTG>ATG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						54.0	50.0	52.0					5																	63256748		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256748C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.799G>A	5.37:g.63256748C>T	ENSP00000316244:p.Val267Met						p.V267M	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	799	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	267			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.799G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	4.544	0.101002	0.08731	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.08	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.540344	0.17511	N	0.171637	T	0.52805	0.1757	M	0.64676	1.99	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.45775	-0.9238	10	0.45353	T	0.12	.	5.6906	0.17827	0.0:0.5748:0.1848:0.2405	rs34158987;rs45600544	267	P08908	5HT1A_HUMAN	M	267	ENSP00000316244:V267M	ENSP00000316244:V267M	V	-	1	0	HTR1A	63292504	0.000000	0.05858	0.000000	0.03702	0.481000	0.33189	0.632000	0.24583	-0.040000	0.13580	0.655000	0.94253	GTG		PASS	0.667	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		5	100	5	100	---	---	---	---
CRHBP	1393	broad.mit.edu	37	5	76249897	76249897	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:76249897C>T	ENST00000274368.4	+	3	641	c.219C>T	c.(217-219)acC>acT	p.T73T	CRHBP_ENST00000506501.1_Silent_p.T73T	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	73					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.T73T(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TCACCTTCACCGCCGACCGGC	0.662																																						uc003ker.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)ACC>ACT		corticotropin releasing hormone binding protein							53.0	58.0	57.0					5																	76249897		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76249897C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.219C>T	5.37:g.76249897C>T						CRHBP_uc010izx.2_Silent_p.T73T	p.T73T	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	3	499	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	73					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.219C>T	CCDS4034.1																																																																																				PASS	0.662	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		28	29	28	29	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815811	82815811	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:82815811T>C	ENST00000265077.3	+	7	2251	c.1686T>C	c.(1684-1686)ctT>ctC	p.L562L	VCAN_ENST00000512590.2_Silent_p.L514L|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.L562L|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	562	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.L562L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACAGAACACTTACAGTTGGAT	0.413																																						uc003kii.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1684-1686)CTT>CTC		versican isoform 1 precursor							156.0	150.0	152.0					5																	82815811		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815811T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1686T>C	5.37:g.82815811T>C						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.L562L|VCAN_uc003kik.3_Intron	p.L562L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2042	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	562			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1686T>C	CCDS4060.1																																																																																				PASS	0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	159	9	159	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90136422	90136422	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:90136422C>T	ENST00000405460.2	+	78	16735	c.16639C>T	c.(16639-16641)Cgt>Tgt	p.R5547C	GPR98_ENST00000425867.2_Missense_Mutation_p.R1208C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5547					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.R5547C(2)		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)		AACAATTGGTCGTACCATCAT	0.388																																						uc003kju.2																			2	Substitution - Missense(2)	p.R5547H(1)	large_intestine(1)|lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16639-16641)CGT>TGT		G protein-coupled receptor 98 precursor							74.0	73.0	74.0					5																	90136422		1905	4125	6030	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.chr5:90136422C>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.16639C>T	5.37:g.90136422C>T	ENSP00000384582:p.Arg5547Cys					GPR98_uc003kjt.2_Missense_Mutation_p.R3253C|GPR98_uc003kjw.2_Missense_Mutation_p.R1208C	p.R5547C	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)	78	16735	+		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)	5547			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16639C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801004	0.50315	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.31769	1.48;1.49	6.16	6.16	0.99307	.	0.094899	0.85682	D	0.000000	T	0.54398	0.1856	L	0.60455	1.87	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.70016	0.928;0.759;0.967	T	0.35151	-0.9800	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1208;5547;1208	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5547;5547;1208	ENSP00000384582:R5547C;ENSP00000392618:R1208C	.	R	+	1	0	GPR98	90172178	0.878000	0.30173	0.313000	0.25210	0.087000	0.18053	3.318000	0.51975	2.937000	0.99478	0.650000	0.86243	CGT		PASS	0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		26	72	26	72	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115339035	115339035	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:115339035A>T	ENST00000357872.4	+	12	2119	c.1995A>T	c.(1993-1995)ttA>ttT	p.L665F	AQPEP_ENST00000395528.2_Missense_Mutation_p.L182F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		665						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L665F(1)									ATGATAAATTAGGTTGGAAGA	0.289																																						uc003kro.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1993-1995)TTA>TTT		laeverin							52.0	59.0	56.0					5																	115339035		2200	4283	6483	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115339035A>T																												ENST00000357872.4:c.1995A>T	5.37:g.115339035A>T	ENSP00000350541:p.Leu665Phe					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.L665F	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			12	2159	+			665			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1995A>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188280	0.57909	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.30714	1.52;1.52	5.2	-6.07	0.02158	.	0.277746	0.21869	N	0.067912	T	0.39545	0.1082	M	0.72118	2.19	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.20874	-1.0262	10	0.56958	D	0.05	.	3.5177	0.07731	0.4702:0.1025:0.3274:0.0999	.	665	Q6Q4G3	AMPQ_HUMAN	F	182;665;654	ENSP00000378899:L182F;ENSP00000350541:L665F	ENSP00000350541:L665F	L	+	3	2	AC010282.1	115366934	0.140000	0.22579	0.192000	0.23308	0.974000	0.67602	-0.003000	0.12901	-0.973000	0.03555	0.477000	0.44152	TTA		PASS	0.289	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			68	93	68	93	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134121181	134121181	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:134121181C>G	ENST00000354283.4	+	11	1504	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V	DDX46_ENST00000452510.2_Missense_Mutation_p.L457V|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	457	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L457V(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACTCGAGAACTGGCTTTACA	0.403																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>GTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							156.0	156.0	156.0					5																	134121181		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134121181C>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1369C>G	5.37:g.134121181C>G	ENSP00000346236:p.Leu457Val					DDX46_uc003kzv.1_RNA	p.L457V	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1537	+			457			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1369C>G	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036321	0.54896	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.93659	-3.26;-3.26	5.79	3.04	0.35103	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95671	0.8723	10	0.87932	D	0	-9.7915	6.2658	0.20925	0.0:0.5547:0.0:0.4453	.	457	Q7L014	DDX46_HUMAN	V	457	ENSP00000416534:L457V;ENSP00000346236:L457V	ENSP00000346236:L457V	L	+	1	2	DDX46	134149080	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.787000	0.47798	0.778000	0.33520	-0.136000	0.14681	CTG		PASS	0.403	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		7	154	7	154	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515253	140515253	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:140515253A>G	ENST00000231134.5	+	1	454	c.237A>G	c.(235-237)atA>atG	p.I79M		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I79M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTGATATAAAGACCGGCA	0.498																																						uc003liq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(235-237)ATA>ATG		protocadherin beta 5 precursor							63.0	69.0	67.0					5																	140515253		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515253A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.237A>G	5.37:g.140515253A>G	ENSP00000231134:p.Ile79Met						p.I79M	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	454	+			79			Extracellular (Potential).|Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.237A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	6.920	0.539441	0.13250	.	.	ENSG00000113209	ENST00000231134	T	0.15139	2.45	5.37	0.825	0.18824	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.10723	0.0262	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.34378	-0.9831	9	0.37606	T	0.19	.	1.3733	0.02215	0.4821:0.1516:0.2272:0.1391	.	79	Q9Y5E4	PCDB5_HUMAN	M	79	ENSP00000231134:I79M	ENSP00000231134:I79M	I	+	3	3	PCDHB5	140495437	0.000000	0.05858	0.016000	0.15963	0.866000	0.49608	-3.007000	0.00649	0.405000	0.25532	0.454000	0.30748	ATA		PASS	0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		53	79	53	79	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140711782	140711782	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:140711782A>C	ENST00000517417.1	+	1	1531	c.1531A>C	c.(1531-1533)Act>Cct	p.T511P	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511P	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T511P(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCCGACACTGGGGTCCT	0.557																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(1531-1533)ACT>CCT		protocadherin gamma subfamily A, 1 isoform 1							133.0	146.0	141.0					5																	140711782		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711782A>C	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1531A>C	5.37:g.140711782A>C	ENSP00000431083:p.Thr511Pro					PCDHGA1_uc011dan.1_Missense_Mutation_p.T511P	p.T511P	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1531	+			511			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1531A>C	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612987	0.46631	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56275	0.47;0.47	3.82	3.82	0.43975	Cadherin (5);Cadherin-like (1);	0.276095	0.25394	N	0.030990	D	0.82761	0.5107	H	0.99197	4.465	0.28941	N	0.890987	D;D	0.71674	0.997;0.998	D;D	0.78314	0.985;0.991	T	0.81922	-0.0711	10	0.87932	D	0	.	12.7192	0.57131	1.0:0.0:0.0:0.0	.	511;511	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	P	511	ENSP00000431083:T511P;ENSP00000367345:T511P	ENSP00000367345:T511P	T	+	1	0	PCDHGA1	140691966	0.018000	0.18449	0.845000	0.33349	0.277000	0.26821	2.960000	0.49161	1.729000	0.51567	0.455000	0.32223	ACT		PASS	0.557	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		113	106	113	106	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140731777	140731777	+	Silent	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:140731777C>G	ENST00000523390.1	+	1	1950	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L650L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCCACTCTCCGCCACCG	0.687																																						uc003ljo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1948-1950)CTC>CTG		protocadherin gamma subfamily B, 1 isoform 1							45.0	54.0	51.0					5																	140731777		2151	4251	6402	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731777C>G	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1950C>G	5.37:g.140731777C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Silent_p.L650L|PCDHGA4_uc003ljp.1_5'Flank	p.L650L	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1950	+			650			Extracellular (Potential).|Cadherin 6.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1950C>G	CCDS54923.1																																																																																				PASS	0.687	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		33	42	33	42	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156531691	156531691	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:156531691C>A	ENST00000307851.4	-	3	1194	c.464G>T	c.(463-465)aGg>aTg	p.R155M	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Intron|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	155						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R155M(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCATGTCCCCTGGTGGTAAG	0.478																																						uc003lwk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)AGG>ATG		T cell immunoglobulin mucin 3 precursor							59.0	48.0	52.0					5																	156531691		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156531691C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.464G>T	5.37:g.156531691C>A	ENSP00000312002:p.Arg155Met						p.R155M	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	608	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	155			Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.464G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314346	0.23908	.	.	ENSG00000135077	ENST00000307851;ENST00000524219	T;T	0.51817	2.03;0.69	4.8	0.9	0.19278	.	1.960070	0.02384	N	0.079047	T	0.31888	0.0811	N	0.14661	0.345	0.09310	N	1	B	0.25105	0.118	B	0.24541	0.054	T	0.23368	-1.0190	10	0.51188	T	0.08	1.1367	4.8189	0.13381	0.0:0.138:0.1711:0.6908	.	155	Q8TDQ0	HAVR2_HUMAN	M	155;38	ENSP00000312002:R155M;ENSP00000430328:R38M	ENSP00000312002:R155M	R	-	2	0	HAVCR2	156464269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.017000	0.13399	0.051000	0.15978	-0.254000	0.11334	AGG		PASS	0.478	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			14	17	14	17	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160059348	160059348	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:160059348G>A	ENST00000327245.5	-	13	2254	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	470					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L470L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGAGTCCAGCTCCTTTGGG	0.512																																						uc003lym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1408-1410)CTG>TTG		ATPase, class V, type 10B							105.0	101.0	103.0					5																	160059348		1937	4130	6067	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160059348G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1408C>T	5.37:g.160059348G>A						ATP10B_uc003lyn.2_Silent_p.L28L	p.L470L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	2255	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	470			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.1408C>T	CCDS43394.1																																																																																				PASS	0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		50	69	50	69	---	---	---	---
SPDL1	54908	broad.mit.edu	37	5	169018201	169018201	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:169018201A>T	ENST00000265295.4	+	3	588	c.309A>T	c.(307-309)ggA>ggT	p.G103G	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.G103G(1)									GAAGCCATGGACAGGAAGTGA	0.358																																						uc003mae.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)	2						c.(307-309)GGA>GGT		coiled-coil domain containing 99							105.0	108.0	107.0					5																	169018201		2203	4300	6503	SO:0001819	synonymous_variant	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169018201A>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.309A>T	5.37:g.169018201A>T						CCDC99_uc010jjj.2_Silent_p.G32G|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR	p.G103G	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	588	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	103			Potential.			Silent	SNP	ENST00000265295.4	37	c.309A>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	7.267	0.606441	0.14002	.	.	ENSG00000040275	ENST00000505977	.	.	.	5.37	-6.26	0.02033	.	.	.	.	.	T	0.48077	0.1480	.	.	.	0.34221	D	0.675392	.	.	.	.	.	.	T	0.56492	-0.7970	4	.	.	.	-3.2498	12.4048	0.55432	0.2968:0.0:0.6096:0.0936	.	.	.	.	S	32	.	.	T	+	1	0	CCDC99	168950779	0.940000	0.31905	0.060000	0.19600	0.860000	0.49131	0.044000	0.13992	-1.210000	0.02627	-1.151000	0.01829	ACA		PASS	0.358	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		37	42	37	42	---	---	---	---
STC2	8614	broad.mit.edu	37	5	172744980	172744980	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:172744980C>T	ENST00000265087.4	-	4	2088	c.779G>A	c.(778-780)gGt>gAt	p.G260D	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	260					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.G260D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTCGCTCACCCTTGGCACC	0.657																																						uc003mco.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(778-780)GGT>GAT		stanniocalcin 2 precursor							74.0	73.0	74.0					5																	172744980		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172744980C>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.779G>A	5.37:g.172744980C>T	ENSP00000265087:p.Gly260Asp					STC2_uc003mcn.1_Missense_Mutation_p.G175D	p.G260D	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	2089	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	260						Missense_Mutation	SNP	ENST00000265087.4	37	c.779G>A	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941741	0.53079	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	3.51	0.40186	.	0.216636	0.48767	D	0.000163	T	0.33933	0.0880	L	0.29908	0.895	0.37665	D	0.922901	P	0.48764	0.915	B	0.42771	0.397	T	0.32903	-0.9889	9	0.54805	T	0.06	-16.7775	7.0249	0.24934	0.0:0.5954:0.2576:0.147	.	260	O76061	STC2_HUMAN	D	260	.	ENSP00000265087:G260D	G	-	2	0	STC2	172677586	0.361000	0.24972	0.863000	0.33907	0.484000	0.33280	1.260000	0.32968	1.269000	0.44280	0.650000	0.86243	GGT		PASS	0.657	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		25	78	25	78	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317599	173317599	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:173317599A>G	ENST00000265085.5	+	1	2317	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.Y288C|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y288C|CPEB4_ENST00000519835.1_Missense_Mutation_p.Y288C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	288					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y288C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGAGCAGCTACCAGAGTCCG	0.582																																						uc003mcs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)TAC>TGC		cytoplasmic polyadenylation element binding							155.0	168.0	164.0					5																	173317599		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317599A>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.863A>G	5.37:g.173317599A>G	ENSP00000265085:p.Tyr288Cys					CPEB4_uc010jju.1_Missense_Mutation_p.Y288C|CPEB4_uc010jjv.2_Missense_Mutation_p.Y288C|CPEB4_uc011dfg.1_Missense_Mutation_p.Y288C|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	p.Y288C	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2269	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	288					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.863A>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186414	0.57909	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.999;0.98;0.987;0.993	D;P;P;P	0.66979	0.948;0.849;0.711;0.758	T	0.65088	-0.6253	10	0.66056	D	0.02	-11.585	15.295	0.73898	1.0:0.0:0.0:0.0	.	288;288;288;288	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	288	ENSP00000265085:Y288C;ENSP00000429092:Y288C;ENSP00000334533:Y288C;ENSP00000429048:Y288C	ENSP00000265085:Y288C	Y	+	2	0	CPEB4	173250205	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.300000	0.96151	2.019000	0.59389	0.455000	0.32223	TAC		PASS	0.582	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		120	170	120	170	---	---	---	---
ZNF354B	117608	broad.mit.edu	37	5	178310363	178310363	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr5:178310363G>A	ENST00000322434.3	+	5	1136	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	304					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.G304S(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTGGTAAATCCTT	0.393																																						uc003mjl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(910-912)GGT>AGT		zinc finger protein 354B							71.0	71.0	71.0					5																	178310363		2202	4300	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310363G>A	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.910G>A	5.37:g.178310363G>A	ENSP00000327143:p.Gly304Ser					ZNF354B_uc003mjm.2_Missense_Mutation_p.G304S	p.G304S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1136	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	304			C2H2-type 4.		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.910G>A	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735646	0.69189	.	.	ENSG00000178338	ENST00000322434	T	0.57752	0.38	3.39	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55337	0.1914	M	0.65677	2.01	0.39856	D	0.973312	B	0.33477	0.413	B	0.42995	0.404	T	0.57985	-0.7716	9	0.66056	D	0.02	-2.7312	8.2395	0.31652	0.1227:0.0:0.8773:0.0	.	304	Q96LW1	Z354B_HUMAN	S	304	ENSP00000327143:G304S	ENSP00000327143:G304S	G	+	1	0	ZNF354B	178242969	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	2.437000	0.44828	0.624000	0.30286	0.561000	0.74099	GGT		PASS	0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		48	47	48	47	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13182901	13182901	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:13182901A>T	ENST00000379350.1	+	6	776	c.647A>T	c.(646-648)gAc>gTc	p.D216V	PHACTR1_ENST00000332995.7_Missense_Mutation_p.D216V|PHACTR1_ENST00000379345.2_Missense_Mutation_p.D71V|PHACTR1_ENST00000457702.2_Missense_Mutation_p.D71V			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	216					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.D216V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAACCGTCAGACATCATGGAT	0.602																																						uc010jpc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GAC>GTC		phosphatase and actin regulator 1							83.0	85.0	85.0					6																	13182901		1950	4159	6109	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13182901A>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.647A>T	6.37:g.13182901A>T	ENSP00000368655:p.Asp216Val					PHACTR1_uc011dir.1_Missense_Mutation_p.D216V|PHACTR1_uc003nag.1_Missense_Mutation_p.D216V|PHACTR1_uc003nah.1_Missense_Mutation_p.D216V	p.D216V	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	979	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	216					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.647A>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	17.59|17.59|17.59	3.427553|3.427553|3.427553	0.62733|0.62733|0.62733	.|.|.	.|.|.	ENSG00000112137|ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702;ENST00000379345;ENST00000434977|ENST00000406205|ENST00000415087	T;T;T|.|.	0.31769|.|.	1.48;1.49;1.52|.|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	0.377568|.|.	0.31335|.|.	N|.|.	0.007822|.|.	T|T|T	0.33904|0.33904|0.33904	0.0879|0.0879|0.0879	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.48135|0.48135|0.48135	D|D|D	0.999598|0.999598|0.999598	P;P;P|.|.	0.52316|.|.	0.952;0.596;0.718|.|.	P;B;B|.|.	0.49140|.|.	0.601;0.137;0.349|.|.	T|T|T	0.32771|0.32771|0.32771	-0.9894|-0.9894|-0.9894	10|5|5	0.28530|.|.	T|.|.	0.3|.|.	-21.2297|-21.2297|-21.2297	15.0966|15.0966|15.0966	0.72238|0.72238|0.72238	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	216;216;216|.|.	E7ESR5;Q9C0D0;Q9C0D0-2|.|.	.;PHAR1_HUMAN;.|.|.	V|S|S	216;216;216;71;71;102|251|51	ENSP00000368655:D216V;ENSP00000329880:D216V;ENSP00000397669:D71V|.|.	ENSP00000329880:D216V|.|.	D|R|T	+|+|+	2|3|1	0|2|0	PHACTR1|PHACTR1|PHACTR1	13290880|13290880|13290880	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	6.778000|6.778000|6.778000	0.75043|0.75043|0.75043	2.178000|2.178000|2.178000	0.69098|0.69098|0.69098	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAC|AGA|ACA		PASS	0.602	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		58	91	58	91	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13632623	13632623	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:13632623A>T	ENST00000011619.3	-	12	1984	c.1926T>A	c.(1924-1926)acT>acA	p.T642T	RANBP9_ENST00000539980.1_Silent_p.T413T|NOL7_ENST00000474485.1_Splice_Site|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	642	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.T642T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TTTTGTTTGCAGTGTTCTTGC	0.388																																						uc003nbb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(1924-1926)ACT>ACA		RAN binding protein 9							188.0	172.0	177.0					6																	13632623		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13632623A>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1926T>A	6.37:g.13632623A>T						RANBP9_uc003nba.2_Silent_p.T301T	p.T642T	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		12	1985	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	642			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.1926T>A	CCDS4529.1																																																																																				PASS	0.388	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			93	109	93	109	---	---	---	---
HIST1H2AB	8335	broad.mit.edu	37	6	26033762	26033762	+	Missense_Mutation	SNP	C	C	A	rs376552436		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:26033762C>A	ENST00000259791.2	-	1	34	c.35G>T	c.(34-36)cGc>cTc	p.R12L	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R12L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTTGGCGCGAGCTTTACC	0.532																																						uc003nft.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGC>CTC		histone cluster 1, H2ab							67.0	74.0	72.0					6																	26033762		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033762C>A	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.35G>T	6.37:g.26033762C>A	ENSP00000259791:p.Arg12Leu					HIST1H3B_uc003nfs.1_5'Flank	p.R12L	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	35	-			12					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.35G>T	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246470	0.39697	.	.	ENSG00000137259	ENST00000259791	T	0.46063	0.88	5.49	5.49	0.81192	Histone-fold (2);Histone H2A (1);	0.000000	0.36034	U	0.002840	T	0.27629	0.0679	.	.	.	0.39836	D	0.973042	B	0.18166	0.026	B	0.06405	0.002	T	0.08638	-1.0712	9	0.87932	D	0	.	18.7226	0.91702	0.0:1.0:0.0:0.0	.	12	P04908	H2A1B_HUMAN	L	12	ENSP00000259791:R12L	ENSP00000259791:R12L	R	-	2	0	HIST1H2AB	26141741	0.810000	0.29049	0.933000	0.37362	0.050000	0.14768	4.899000	0.63245	2.716000	0.92895	0.655000	0.94253	CGC		PASS	0.532	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		40	55	40	55	---	---	---	---
HIST1H2AB	8335	broad.mit.edu	37	6	26033764	26033764	+	Silent	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:26033764A>C	ENST00000259791.2	-	1	32	c.33T>G	c.(31-33)gcT>gcG	p.A11A	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A11A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCTTGGCGCGAGCTTTACCGC	0.527																																						uc003nft.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GCT>GCG		histone cluster 1, H2ab							67.0	75.0	72.0					6																	26033764		2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033764A>C	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.33T>G	6.37:g.26033764A>C						HIST1H3B_uc003nfs.1_5'Flank	p.A11A	NM_003513	NP_003504	P04908	H2A1B_HUMAN			1	33	-			11					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.33T>G	CCDS4574.1																																																																																				PASS	0.527	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		40	55	40	55	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26392893	26392893	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:26392893G>A	ENST00000356709.4	+	8	1381	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.G424R|BTN2A2_ENST00000482536.1_Missense_Mutation_p.G214R|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.G308R	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	424	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G424R(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGAGATGTTTGGAAACCAATA	0.562																																						uc003nhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)GGA>AGA		butyrophilin, subfamily 2, member A2 isoform a							104.0	102.0	102.0					6																	26392893		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392893G>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1270G>A	6.37:g.26392893G>A	ENSP00000349143:p.Gly424Arg					BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.G308R|BTN2A2_uc011dkh.1_Missense_Mutation_p.G214R|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.G424R|BTN2A2_uc011dki.1_3'UTR	p.G424R	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			8	1356	+			424			B30.2/SPRY.|Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1270G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	19.58	3.854247	0.71719	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	3.92	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.424262	0.20155	N	0.098066	T	0.59729	0.2215	L	0.46567	1.45	0.33171	D	0.548227	D;P;P	0.65815	0.995;0.708;0.886	P;P;P	0.60541	0.876;0.728;0.626	T	0.63585	-0.6604	10	0.62326	D	0.03	.	11.8261	0.52267	0.0:0.0:1.0:0.0	.	214;308;424	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	R	219;424;308;214;424	ENSP00000418965:G219R;ENSP00000349143:G424R;ENSP00000337117:G308R;ENSP00000419451:G214R;ENSP00000399308:G424R	ENSP00000337117:G308R	G	+	1	0	BTN2A2	26500872	0.001000	0.12720	0.837000	0.33122	0.992000	0.81027	1.347000	0.33975	1.916000	0.55485	0.454000	0.30748	GGA		PASS	0.562	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			32	30	32	30	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28294603	28294603	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:28294603C>G	ENST00000414429.1	-	8	1464	c.561G>C	c.(559-561)gaG>gaC	p.E187D	ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E187D|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E187D|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.E28D|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E187D			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	187					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.E187D(1)									TTGATGCCAACTCCTGGTTCT	0.343																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(559-561)GAG>GAC		zinc finger protein 323							53.0	57.0	55.0					6																	28294603		2203	4299	6502	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294603C>G		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.561G>C	6.37:g.28294603C>G	ENSP00000390076:p.Glu187Asp					ZNF323_uc003nld.2_Missense_Mutation_p.E187D|ZNF323_uc010jra.2_Missense_Mutation_p.E187D|ZNF323_uc003nlb.2_Missense_Mutation_p.E28D|ZNF323_uc010jrb.2_Missense_Mutation_p.E28D|ZNF323_uc003nlc.2_Missense_Mutation_p.E187D	p.E187D	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	961	-			187					Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.561G>C	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164384	0.21538	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431;ENST00000453745;ENST00000426434	T;T;T;T;T;T;T;T;T	0.51817	3.42;3.42;3.42;3.36;3.42;3.44;5.89;4.29;0.69	4.68	-2.15	0.07102	.	.	.	.	.	T	0.07999	0.0200	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	9	0.23891	T	0.37	.	1.3183	0.02112	0.1257:0.3505:0.2257:0.2981	.	187	Q96LW9	ZN323_HUMAN	D	187;187;187;28;187;28;28;187;71	ENSP00000380050:E187D;ENSP00000413705:E187D;ENSP00000390076:E187D;ENSP00000402937:E28D;ENSP00000345339:E187D;ENSP00000391235:E28D;ENSP00000407529:E28D;ENSP00000389479:E187D;ENSP00000398680:E71D	ENSP00000345339:E187D	E	-	3	2	ZNF323	28402582	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-0.584000	0.05800	-0.553000	0.06158	0.467000	0.42956	GAG		PASS	0.343	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		47	53	47	53	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29588941	29588941	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:29588941C>A	ENST00000377034.4	-	11	1595	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	GABBR1_ENST00000355973.3_Missense_Mutation_p.E303D|GABBR1_ENST00000376977.3_Missense_Mutation_p.E420D|GABBR1_ENST00000377012.4_Missense_Mutation_p.E303D|GABBR1_ENST00000377016.4_Missense_Mutation_p.E358D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	420					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.E420D(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGATGTGGCCCTCCACCGCCT	0.517																																						uc003nmt.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(1258-1260)GAG>GAT		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						157.0	121.0	134.0					6																	29588941		1511	2708	4219	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29588941C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1260G>T	6.37:g.29588941C>A	ENSP00000366233:p.Glu420Asp					GABBR1_uc003nmp.3_Missense_Mutation_p.E303D|GABBR1_uc003nms.3_Missense_Mutation_p.E303D|GABBR1_uc003nmu.3_Missense_Mutation_p.E358D|GABBR1_uc011dlr.1_Missense_Mutation_p.E243D|GABBR1_uc011dls.1_Missense_Mutation_p.E420D	p.E420D	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			11	1596	-			420			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1260G>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971136	0.53614	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.64	1.83	0.25207	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	L	0.58583	1.82	0.58432	D	0.999997	B;D;D;D	0.71674	0.328;0.992;0.998;0.998	B;P;D;D	0.80764	0.155;0.677;0.994;0.994	T	0.74559	-0.3625	10	0.72032	D	0.01	-10.4809	8.5517	0.33455	0.0:0.6658:0.0:0.3342	.	420;358;420;303	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	D	303;420;358;303;420	ENSP00000348248:E303D;ENSP00000366176:E420D;ENSP00000366215:E358D;ENSP00000366211:E303D;ENSP00000366233:E420D	ENSP00000348248:E303D	E	-	3	2	GABBR1	29696920	1.000000	0.71417	0.997000	0.53966	0.515000	0.34225	1.049000	0.30392	0.052000	0.16007	-0.155000	0.13514	GAG		PASS	0.517	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			31	32	31	32	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43181259	43181259	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:43181259G>T	ENST00000252050.4	+	28	5526	c.5442G>T	c.(5440-5442)ggG>ggT	p.G1814G	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.G1704G|CUL9_ENST00000372647.2_Silent_p.G1814G|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1814					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.G1814G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCACCTCAGGGAATGGCCCTT	0.632																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(5440-5442)GGG>GGT		p53-associated parkin-like cytoplasmic protein							52.0	53.0	53.0					6																	43181259		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181259G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5442G>T	6.37:g.43181259G>T						CUL9_uc003oul.2_Silent_p.G1814G|CUL9_uc010jyk.2_Silent_p.G966G|CUL9_uc003oun.2_5'Flank	p.G1814G	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			28	5517	+			1814					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.5442G>T	CCDS4890.1																																																																																				PASS	0.632	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	76	4	76	---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84233821	84233821	+	Nonsense_Mutation	SNP	G	G	T	rs367751854		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:84233821G>T	ENST00000369700.3	+	2	838	c.661G>T	c.(661-663)Gag>Tag	p.E221*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.E221*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	221	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.E221*(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGTACCAGAGAGCATCTGCG	0.532																																						uc003pjz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(661-663)GAG>TAG		protease, serine, 35 precursor							59.0	67.0	64.0					6																	84233821		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233821G>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.661G>T	6.37:g.84233821G>T	ENSP00000358714:p.Glu221*					PRSS35_uc010kbm.2_Nonsense_Mutation_p.E221*	p.E221*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	824	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	221			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.661G>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855811	0.51376	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.65	3.85	0.44370	.	1.344550	0.04792	N	0.431832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-5.6473	12.3326	0.55048	0.1386:0.0:0.8614:0.0	.	.	.	.	X	221	.	ENSP00000358714:E221X	E	+	1	0	PRSS35	84290540	0.951000	0.32395	0.001000	0.08648	0.022000	0.10575	5.560000	0.67332	0.720000	0.32209	0.462000	0.41574	GAG		PASS	0.532	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		19	36	19	36	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	94066583	94066583	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:94066583C>A	ENST00000369303.4	-	5	1360	c.1176G>T	c.(1174-1176)caG>caT	p.Q392H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	392	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.Q392H(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAATCCAGTCTGCTGGGGCA	0.458																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1174-1176)CAG>CAT		ephrin receptor EphA7 precursor							146.0	124.0	131.0					6																	94066583		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066583C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1176G>T	6.37:g.94066583C>A	ENSP00000358309:p.Gln392His					EPHA7_uc003pof.2_Missense_Mutation_p.Q392H|EPHA7_uc011eac.1_Missense_Mutation_p.Q392H	p.Q392H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1417	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	392			Extracellular (Potential).|Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1176G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191118	0.58017	.	.	ENSG00000135333	ENST00000369303	T	0.58506	0.33	5.85	2.75	0.32379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054715	0.85682	D	0.000000	T	0.56307	0.1976	M	0.67517	2.055	0.80722	D	1	P;D;D	0.65815	0.891;0.994;0.995	P;P;D	0.66602	0.466;0.908;0.945	T	0.59059	-0.7525	10	0.52906	T	0.07	.	5.2743	0.15641	0.0:0.4626:0.0:0.5374	.	392;392;392	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	392	ENSP00000358309:Q392H	ENSP00000358309:Q392H	Q	-	3	2	EPHA7	94123304	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.310000	0.33551	0.828000	0.34709	-0.133000	0.14855	CAG		PASS	0.458	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			31	29	31	29	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101095237	101095237	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:101095237C>G	ENST00000369162.2	-	21	3687	c.3343G>C	c.(3343-3345)Gtc>Ctc	p.V1115L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1115	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.V1115L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTGTCAATGACTTTACTAAGA	0.408																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3343-3345)GTC>CTC		activating signal cointegrator 1 complex subunit							108.0	105.0	106.0					6																	101095237		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101095237C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3343G>C	6.37:g.101095237C>G	ENSP00000358159:p.Val1115Leu					ASCC3_uc011eai.1_Missense_Mutation_p.V1017L	p.V1115L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	21	3672	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1115			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.3343G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544013	0.45280	.	.	ENSG00000112249	ENST00000369162	T	0.60299	0.2	5.73	4.86	0.63082	Sec63 domain (3);	0.062499	0.64402	D	0.000005	T	0.31199	0.0789	L	0.40543	1.245	0.80722	D	1	B	0.24186	0.099	B	0.21708	0.036	T	0.17319	-1.0373	10	0.33141	T	0.24	.	11.807	0.52161	0.0:0.8589:0.0:0.1411	.	1115	Q8N3C0	HELC1_HUMAN	L	1115	ENSP00000358159:V1115L	ENSP00000358159:V1115L	V	-	1	0	ASCC3	101201958	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.023000	0.57211	1.425000	0.47237	-0.140000	0.14226	GTC		PASS	0.408	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		48	54	48	54	---	---	---	---
OSTM1	28962	broad.mit.edu	37	6	108395464	108395464	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:108395464C>A	ENST00000193322.3	-	1	477	c.392G>T	c.(391-393)cGa>cTa	p.R131L		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	131					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.R131L(1)		central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CCCCGCGGCTCGGCTGATGTT	0.637																																					Melanoma(162;1427 1909 3096 17430 21396)	uc003psd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(391-393)CGA>CTA		osteopetrosis associated transmembrane protein 1							21.0	24.0	23.0					6																	108395464		2195	4282	6477	SO:0001583	missense	28962					integral to membrane		g.chr6:108395464C>A	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.392G>T	6.37:g.108395464C>A	ENSP00000193322:p.Arg131Leu						p.R131L	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	1	478	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	131			Extracellular (Potential).		E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	c.392G>T	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306072	0.81247	.	.	ENSG00000081087	ENST00000193322	T	0.46063	0.88	5.3	5.3	0.74995	.	0.568935	0.17693	N	0.165212	T	0.28067	0.0692	L	0.60455	1.87	0.44816	D	0.997822	P	0.40794	0.729	B	0.33121	0.158	T	0.31916	-0.9926	10	0.62326	D	0.03	-8.4824	16.7097	0.85382	0.0:1.0:0.0:0.0	.	131	Q86WC4	OSTM1_HUMAN	L	131	ENSP00000193322:R131L	ENSP00000193322:R131L	R	-	2	0	OSTM1	108502157	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.096000	0.50243	2.480000	0.83734	0.655000	0.94253	CGA		PASS	0.637	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		17	21	17	21	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121427234	121427234	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:121427234G>C	ENST00000398212.2	-	30	3449	c.3400C>G	c.(3400-3402)Cta>Gta	p.L1134V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.L1175V|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1134	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.L1134V(1)									GCCTTCAGTAGCATTTCAATA	0.388																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3400-3402)CTA>GTA		hypothetical protein LOC221322							185.0	183.0	184.0					6																	121427234		1868	4087	5955	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121427234G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3400C>G	6.37:g.121427234G>C	ENSP00000381270:p.Leu1134Val						p.L1134V	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	30	3468	-			1134			Rab-GAP TBC.		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.3400C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270564	0.23221	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.34472	1.36;1.36	5.06	2.31	0.28768	Rab-GAP/TBC domain (1);	0.000000	0.64402	D	0.000001	T	0.29556	0.0737	L	0.52364	1.645	0.46725	D	0.999177	D	0.67145	0.996	P	0.61800	0.894	T	0.06862	-1.0803	10	0.35671	T	0.21	.	5.6429	0.17575	0.4456:0.0:0.5544:0.0	.	1134	Q96NH3	BROMI_HUMAN	V	1175;1134	ENSP00000275159:L1175V;ENSP00000381270:L1134V	ENSP00000275159:L1175V	L	-	1	2	C6orf170	121468933	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	1.718000	0.38001	0.822000	0.34565	0.650000	0.86243	CTA		PASS	0.388	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		6	246	6	246	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121625726	121625726	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:121625726G>C	ENST00000398212.2	-	7	864	c.815C>G	c.(814-816)cCt>cGt	p.P272R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P272R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	272					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P272R(1)									TGAAAGAGTAGGAATATGATT	0.289																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(814-816)CCT>CGT		hypothetical protein LOC221322							66.0	64.0	65.0					6																	121625726		1816	4066	5882	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121625726G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.815C>G	6.37:g.121625726G>C	ENSP00000381270:p.Pro272Arg					C6orf170_uc003pyq.1_RNA	p.P272R	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	7	883	-			272					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.815C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104838	0.56291	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28666	1.6;1.6	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.70275	2.135	0.39688	D	0.971001	D	0.89917	1.0	D	0.85130	0.997	T	0.44559	-0.9320	10	0.54805	T	0.06	-3.3213	5.3387	0.15971	0.0786:0.1429:0.6307:0.1479	.	272	Q96NH3	BROMI_HUMAN	R	272	ENSP00000275159:P272R;ENSP00000381270:P272R	ENSP00000275159:P272R	P	-	2	0	C6orf170	121667425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.508000	0.53378	2.316000	0.78162	0.650000	0.86243	CCT		PASS	0.289	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		40	52	40	52	---	---	---	---
RNF217-AS1	7955	broad.mit.edu	37	6	125231797	125231797	+	RNA	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:125231797A>G	ENST00000439075.1	-	0	2948					NR_026876.1																						ctagttagagaagcagagatg	0.333																																						uc003pzq.2										T					ETV6		B-ALL		0					0								Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132).							25.0	25.0	25.0					6																	125231797		876	1991	2867			7955							g.chr6:125231797A>G																													6.37:g.125231797A>G								NR_026876						7		-									RNA	SNP	ENST00000439075.1	37	c.2937T>C																																																																																					PASS	0.333	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			10	18	10	18	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1513289	1513289	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:1513289T>G	ENST00000404767.3	-	42	5955	c.5870A>C	c.(5869-5871)aAc>aCc	p.N1957T	INTS1_ENST00000389470.4_Missense_Mutation_p.N2161T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1957					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.N2161T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACAAACTTGTTGATGAAGGC	0.567											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5869-5871)AAC>ACC		integrator complex subunit 1							87.0	99.0	95.0					7																	1513289		2094	4221	6315	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1513289T>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5870A>C	7.37:g.1513289T>G	ENSP00000385722:p.Asn1957Thr		OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596	INTS1_uc003skm.1_Missense_Mutation_p.N94T	p.N1957T	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	42	5971	-		Ovarian(82;0.0253)	1957					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5870A>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	9.579	1.123104	0.20959	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.46819	0.89;0.86	4.94	0.712	0.18167	.	0.298968	0.45606	D	0.000349	T	0.33411	0.0862	L	0.38838	1.175	0.27537	N	0.950925	B	0.06786	0.001	B	0.06405	0.002	T	0.20472	-1.0274	10	0.54805	T	0.06	.	8.1206	0.30969	0.0:0.7188:0.1052:0.176	.	1957	Q8N201	INT1_HUMAN	T	1957;2161	ENSP00000385722:N1957T;ENSP00000374121:N2161T	ENSP00000374121:N2161T	N	-	2	0	INTS1	1479815	0.991000	0.36638	0.995000	0.50966	0.625000	0.37756	0.238000	0.18004	-0.186000	0.10533	-1.226000	0.01582	AAC		PASS	0.567	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			26	22	26	22	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1589575	1589575	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:1589575G>C	ENST00000297477.5	-	6	875	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	187					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)		p.L187V(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CAGAACTGCAGAGTGGCCTGG	0.657																																						uc003skv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CTG>GTG		transmembrane protein 184A							53.0	58.0	56.0					7																	1589575		2055	4220	6275	SO:0001583	missense	202915					integral to membrane		g.chr7:1589575G>C		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.559C>G	7.37:g.1589575G>C	ENSP00000297477:p.Leu187Val					TMEM184A_uc003skt.3_5'UTR|TMEM184A_uc003skw.3_5'UTR	p.L187V	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	6	876	-		Ovarian(82;0.0253)	187			Helical; (Potential).		Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.559C>G	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280220	0.59758	.	.	ENSG00000164855	ENST00000297477;ENST00000319010	T;T	0.52754	0.65;0.65	4.74	4.74	0.60224	.	0.000000	0.64402	U	0.000003	T	0.69441	0.3111	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.74797	-0.3543	10	0.87932	D	0	-14.4955	17.729	0.88372	0.0:0.0:1.0:0.0	.	187	Q6ZMB5	T184A_HUMAN	V	187	ENSP00000297477:L187V;ENSP00000325945:L187V	ENSP00000297477:L187V	L	-	1	2	TMEM184A	1556101	1.000000	0.71417	0.959000	0.39883	0.299000	0.27559	6.321000	0.72881	2.160000	0.67779	0.462000	0.41574	CTG		PASS	0.657	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		43	50	43	50	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8198194	8198194	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:8198194C>G	ENST00000402384.3	-	7	934	c.668G>C	c.(667-669)aGa>aCa	p.R223T	ICA1_ENST00000407906.1_Missense_Mutation_p.R223T|ICA1_ENST00000396675.3_Missense_Mutation_p.R223T|ICA1_ENST00000406470.2_Missense_Mutation_p.R223T|ICA1_ENST00000422063.2_Missense_Mutation_p.R223T|ICA1_ENST00000265577.7_Missense_Mutation_p.R222T|ICA1_ENST00000401396.1_Missense_Mutation_p.R211T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	223	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.R223T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAGATTGCATCTGCTCGCTCC	0.358																																						uc003srm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(667-669)AGA>ACA		islet cell autoantigen 1							159.0	138.0	145.0					7																	8198194		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198194C>G		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.668G>C	7.37:g.8198194C>G	ENSP00000385570:p.Arg223Thr					ICA1_uc010ktr.2_Missense_Mutation_p.R223T|ICA1_uc003srl.2_Missense_Mutation_p.R211T|ICA1_uc003srn.3_Missense_Mutation_p.R149T|ICA1_uc003srp.3_Missense_Mutation_p.R222T|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.R223T|ICA1_uc003srr.2_Missense_Mutation_p.R222T|ICA1_uc003sro.3_Missense_Mutation_p.R223T|ICA1_uc011jxg.1_Missense_Mutation_p.R223T|ICA1_uc003srs.1_Missense_Mutation_p.R223T	p.R223T	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	735	-		Ovarian(82;0.0612)	223			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.668G>C	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717161	0.89205	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.09	5.09	0.68999	Arfaptin-like (3);	0.046597	0.85682	D	0.000000	D	0.90985	0.7165	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.984;0.995;0.998;0.99;0.998	D	0.91887	0.5520	10	0.87932	D	0	-20.1828	19.0626	0.93099	0.0:1.0:0.0:0.0	.	223;223;222;211;223;211	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	T	223;223;222;223;211;223;223;211	ENSP00000385570:R223T;ENSP00000385651:R223T;ENSP00000265577:R222T;ENSP00000379908:R223T;ENSP00000385305:R211T;ENSP00000403982:R223T;ENSP00000386021:R223T;ENSP00000316074:R211T	ENSP00000265577:R222T	R	-	2	0	ICA1	8164719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.486000	0.81215	2.826000	0.97356	0.561000	0.74099	AGA		PASS	0.358	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		48	158	48	158	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19748537	19748537	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:19748537C>A	ENST00000222567.5	-	1	173	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	35					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.A35S(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CAAGCAGCGGCATAAGTCGGC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003sup.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(103-105)GCC>TCC		TWIST neighbor							44.0	38.0	40.0					7																	19748537		2203	4299	6502	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748537C>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.103G>T	7.37:g.19748537C>A	ENSP00000222567:p.Ala35Ser		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.A35S	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			1	124	-			35					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.103G>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655687	0.47467	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	2.2	0.27929	.	0.376628	0.29266	N	0.012655	T	0.27278	0.0669	N	0.16656	0.425	0.48135	D	0.999594	P	0.42692	0.787	B	0.40199	0.322	T	0.02282	-1.1183	9	0.31617	T	0.26	-2.1577	6.5537	0.22448	0.3158:0.5979:0.0:0.0863	.	35	Q3B726	RPA43_HUMAN	S	35	.	ENSP00000222567:A35S	A	-	1	0	TWISTNB	19715062	0.981000	0.34729	0.654000	0.29608	0.451000	0.32288	0.661000	0.25023	0.452000	0.26830	-0.182000	0.12963	GCC		PASS	0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			11	55	11	55	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30496374	30496374	+	Missense_Mutation	SNP	G	G	A	rs6947097		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:30496374G>A	ENST00000222823.4	-	4	689	c.164C>T	c.(163-165)gCg>gTg	p.A55V	NOD1_ENST00000423334.2_Missense_Mutation_p.A55V	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	55	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A55V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACAATCTCCGCATCTTCGGC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18094	0.0		0.0	False		,,,				2504	0.0					uc003tav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(163-165)GCG>GTG		nucleotide-binding oligomerization domain		G	VAL/ALA	2,4404	6.2+/-15.9	0,2,2201	119.0	105.0	110.0		164	4.0	0.0	7	dbSNP_116	110	0,8600		0,0,4300	no	missense	NOD1	NM_006092.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	55/954	30496374	2,13004	2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30496374G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.164C>T	7.37:g.30496374G>A	ENSP00000222823:p.Ala55Val					NOD1_uc010kvs.2_Missense_Mutation_p.A55V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	p.A55V	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			4	687	-			55			CARD.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.164C>T	CCDS5427.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.69	2.611322	0.46631	4.54E-4	0.0	ENSG00000106100	ENST00000222823;ENST00000423334;ENST00000411552;ENST00000419799;ENST00000413433	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	5.8	4.01	0.46588	DEATH-like (2);Caspase Recruitment (2);	0.165528	0.53938	D	0.000060	T	0.08492	0.0211	N	0.08118	0	0.29648	N	0.844164	B;P	0.35468	0.287;0.503	B;B	0.25506	0.047;0.061	T	0.17258	-1.0375	10	0.13470	T	0.59	.	11.8002	0.52122	0.1414:0.0:0.8586:0.0	rs6947097;rs6947097	55;55	B4DTU3;Q9Y239	.;NOD1_HUMAN	V	55	ENSP00000222823:A55V;ENSP00000409416:A55V;ENSP00000396046:A55V;ENSP00000395551:A55V;ENSP00000399505:A55V	ENSP00000222823:A55V	A	-	2	0	NOD1	30462899	0.979000	0.34478	0.004000	0.12327	0.033000	0.12548	3.816000	0.55658	0.806000	0.34183	0.655000	0.94253	GCG		PASS	0.567	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			80	72	80	72	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31123762	31123762	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:31123762G>A	ENST00000304166.4	+	7	624	c.335G>A	c.(334-336)gGa>gAa	p.G112E	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G91E|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G112E|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G112E	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	112					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.G112E(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCAGACATGGGAGTGGTGAGC	0.483																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)GGA>GAA		adenylate cyclase activating polypeptide 1							142.0	139.0	140.0					7																	31123762		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.chr7:31123762G>A		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.335G>A	7.37:g.31123762G>A	ENSP00000306620:p.Gly112Glu					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.G91E|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tcf.1_5'Flank	p.G112E	NM_001118	NP_001109	P41586	PACR_HUMAN			7	558	+			112			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.335G>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750895	0.49257	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.66	5.66	0.87406	GPCR, family 2, extracellular hormone receptor domain (3);	0.113338	0.64402	D	0.000015	T	0.65354	0.2683	L	0.39633	1.23	0.51767	D	0.99993	B;B;B;B;B	0.23185	0.013;0.003;0.021;0.081;0.007	B;B;B;B;B	0.34180	0.108;0.038;0.177;0.081;0.032	T	0.64183	-0.6467	10	0.72032	D	0.01	.	17.2566	0.87059	0.0:0.0:1.0:0.0	.	112;112;112;91;112	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	E	112;91;112;112	ENSP00000306620:G112E;ENSP00000387335:G91E;ENSP00000379514:G112E;ENSP00000386395:G112E	ENSP00000306620:G112E	G	+	2	0	ADCYAP1R1	31090287	1.000000	0.71417	0.865000	0.33974	0.500000	0.33767	4.453000	0.60061	2.653000	0.90120	0.563000	0.77884	GGA		PASS	0.483	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		21	82	21	82	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38475876	38475876	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:38475876G>C	ENST00000356264.2	-	12	1345	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	AMPH_ENST00000428293.2_Missense_Mutation_p.S377C|AMPH_ENST00000325590.5_Missense_Mutation_p.S377C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	377					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.S377C(1)|p.S377F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGATACCTGAGACATGGGTGA	0.463																																						uc003tgu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|liver(1)|skin(1)	5						c.(1129-1131)TCT>TGT		amphiphysin isoform 1							75.0	70.0	72.0					7																	38475876		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475876G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1130C>G	7.37:g.38475876G>C	ENSP00000348602:p.Ser377Cys					AMPH_uc003tgv.2_Missense_Mutation_p.S377C|AMPH_uc003tgt.2_Missense_Mutation_p.S130C	p.S377C	NM_001635	NP_001626	P49418	AMPH_HUMAN			12	1199	-			377					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1130C>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330843	0.81690	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.62498	0.09;0.02;0.1	5.54	5.54	0.83059	.	0.165704	0.41396	D	0.000893	T	0.77765	0.4179	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.78094	-0.2338	10	0.59425	D	0.04	-18.7648	19.4951	0.95069	0.0:0.0:1.0:0.0	.	377;377;133	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	C	377;377;377;147;380	ENSP00000317441:S377C;ENSP00000348602:S377C;ENSP00000390734:S377C	ENSP00000317441:S377C	S	-	2	0	AMPH	38442401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.456000	0.73501	2.609000	0.88269	0.655000	0.94253	TCT		PASS	0.463	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		27	114	27	114	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38908827	38908827	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:38908827C>A	ENST00000310301.4	-	3	141	c.87G>T	c.(85-87)aaG>aaT	p.K29N	VPS41_ENST00000395969.2_Missense_Mutation_p.K29N	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	29					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.K29N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATACTTCAGCTTGGGTTCCT	0.418																																						uc003tgy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(85-87)AAG>AAT		vacuolar protein sorting 41 isoform 1							154.0	148.0	150.0					7																	38908827		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38908827C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.87G>T	7.37:g.38908827C>A	ENSP00000309457:p.Lys29Asn					VPS41_uc003tgz.2_Missense_Mutation_p.K29N|VPS41_uc010kxn.2_Missense_Mutation_p.K29N	p.K29N	NM_014396	NP_055211	P49754	VPS41_HUMAN			3	113	-			29					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.87G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881549	0.72294	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000414632	T;T;T	0.47177	0.85;0.85;0.85	5.86	-1.66	0.08265	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.84683	2.71	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.69712	-0.5071	10	0.49607	T	0.09	-29.3094	13.5076	0.61493	0.0:0.7067:0.0:0.2933	.	29;29;29	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	N	29;29;16	ENSP00000309457:K29N;ENSP00000379297:K29N;ENSP00000411919:K16N	ENSP00000265745:K29N	K	-	3	2	VPS41	38875352	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	0.971000	0.29396	-0.286000	0.09076	-0.302000	0.09304	AAG		PASS	0.418	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			87	146	87	146	---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44875239	44875239	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:44875239T>C	ENST00000308153.4	-	4	305	c.214A>G	c.(214-216)Aat>Gat	p.N72D	H2AFV_ENST00000437072.1_Missense_Mutation_p.N34D|H2AFV_ENST00000446531.1_Missense_Mutation_p.N72D|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000349299.3_Missense_Mutation_p.N34D|H2AFV_ENST00000350771.3_Missense_Mutation_p.N46D|H2AFV_ENST00000222690.6_Missense_Mutation_p.N72D	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	72						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N72D(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TTAGAAGCATTACCTGCCAGC	0.433																																						uc003tma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)AAT>GAT		H2A histone family, member V isoform 1							101.0	87.0	92.0					7																	44875239		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44875239T>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.214A>G	7.37:g.44875239T>C	ENSP00000308405:p.Asn72Asp					H2AFV_uc003tlz.2_Missense_Mutation_p.N72D|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Missense_Mutation_p.N34D|H2AFV_uc003tmc.2_Intron|H2AFV_uc003tmd.2_Missense_Mutation_p.N46D	p.N72D	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			4	369	-			72					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.214A>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	T	33	5.208839	0.95069	.	.	ENSG00000105968	ENST00000222690;ENST00000437072;ENST00000349299;ENST00000308153;ENST00000350771;ENST00000446531	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.38	5.38	0.77491	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.95105	0.8414	H	0.95470	3.675	0.80722	D	1	D;D;P;D	0.71674	0.986;0.998;0.735;0.992	D;D;P;D	0.70487	0.936;0.969;0.492;0.939	D	0.96265	0.9194	9	0.87932	D	0	-24.119	13.627	0.62170	0.0:0.0:0.0:1.0	.	46;34;72;72	A6NKY0;A6NFA8;Q71UI9;A6NN01	.;.;H2AV_HUMAN;.	D	72;34;34;72;46;72	ENSP00000222690:N72D;ENSP00000397115:N34D;ENSP00000342714:N34D;ENSP00000308405:N72D;ENSP00000340708:N46D;ENSP00000406901:N72D	ENSP00000222690:N72D	N	-	1	0	H2AFV	44841764	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.422000	0.80217	2.179000	0.69175	0.477000	0.44152	AAT		PASS	0.433	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		12	94	12	94	---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47454736	47454736	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:47454736T>C	ENST00000398879.1	-	11	908	c.542A>G	c.(541-543)cAt>cGt	p.H181R	TNS3_ENST00000311160.9_Missense_Mutation_p.H181R|TNS3_ENST00000458317.2_Missense_Mutation_p.H181R|TNS3_ENST00000355730.3_Missense_Mutation_p.H181R|TNS3_ENST00000442536.2_Missense_Mutation_p.H181R			Q68CZ2	TENS3_HUMAN	tensin 3	181	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.H181R(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GATGACAAAATGCAGGAACAG	0.567																																						uc003tnv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(541-543)CAT>CGT		tensin 3							89.0	105.0	100.0					7																	47454736		2041	4194	6235	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47454736T>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.542A>G	7.37:g.47454736T>C	ENSP00000381854:p.His181Arg					TNS3_uc003tnw.2_Missense_Mutation_p.H181R|TNS3_uc010kyo.1_Missense_Mutation_p.H181R	p.H181R	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			11	909	-			181			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.542A>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914650	0.72983	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.14	5.14	0.70334	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.218914	0.46758	D	0.000280	D	0.90497	0.7023	M	0.72353	2.195	0.46521	D	0.999082	D;D	0.89917	0.997;1.0	D;D	0.87578	0.993;0.998	D	0.89445	0.3726	10	0.35671	T	0.21	-22.8884	11.6184	0.51102	0.0:0.0:0.0:1.0	.	181;181	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	R	181;291;181;181;284;270;181;181	ENSP00000312143:H181R;ENSP00000381854:H181R;ENSP00000347968:H181R;ENSP00000414358:H284R;ENSP00000396914:H270R;ENSP00000389285:H181R;ENSP00000388318:H181R	ENSP00000312143:H181R	H	-	2	0	TNS3	47421261	1.000000	0.71417	0.875000	0.34327	0.874000	0.50279	6.683000	0.74533	2.072000	0.62099	0.533000	0.62120	CAT		PASS	0.567	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		17	66	17	66	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51111274	51111274	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:51111274G>A	ENST00000265136.7	-	8	1377	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	COBL_ENST00000395542.2_Silent_p.T486T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	404					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.T404T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGAGTCCTCGGTCGTGTCCT	0.602																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1210-1212)ACC>ACT		cordon-bleu homolog							127.0	101.0	110.0					7																	51111274		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111274G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1212C>T	7.37:g.51111274G>A						COBL_uc003tps.2_Silent_p.T461T|COBL_uc011kcl.1_Silent_p.T404T|COBL_uc010kzc.2_Silent_p.T404T|COBL_uc003tpp.3_Silent_p.T190T|COBL_uc003tpq.3_Silent_p.T345T	p.T404T	NM_015198	NP_056013	O75128	COBL_HUMAN			8	1397	-	Glioma(55;0.08)		404					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1212C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	3.345	-0.133694	0.06711	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	.	.	.	.	.	.	0.37307	D	0.908975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8698	0.01211	0.338:0.1431:0.1429:0.3761	.	.	.	.	X	380	.	.	R	-	1	2	COBL	51078768	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-7.367000	0.00038	-3.644000	0.00127	-0.136000	0.14681	CGA		PASS	0.602	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	127	10	127	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57194380	57194380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:57194380C>A	ENST00000331162.4	-	3	355	c.85G>T	c.(85-87)Gaa>Taa	p.E29*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.E29*(1)|p.E29K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGCCATTCCTCCAGAGAG	0.438																																						uc010kzo.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.E29K(1)	ovary(1)|lung(1)	ovary(3)|skin(1)	4						c.(85-87)GAA>TAA		zinc finger protein 479							49.0	50.0	50.0					7																	57194380		2172	4276	6448	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194380C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.85G>T	7.37:g.57194380C>A	ENSP00000333776:p.Glu29*						p.E29*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	356	-			29			KRAB.			Nonsense_Mutation	SNP	ENST00000331162.4	37	c.85G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	18.05	3.537758	0.65085	.	.	ENSG00000185177	ENST00000331162	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0193	0.30400	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000333776:E29X	E	-	1	0	ZNF479	57198322	0.001000	0.12720	0.051000	0.19133	0.007000	0.05969	0.049000	0.14099	0.669000	0.31146	0.393000	0.25936	GAA		PASS	0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		41	124	41	124	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64166913	64166913	+	Missense_Mutation	SNP	G	G	T	rs201233350		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:64166913G>T	ENST00000395391.1	+	4	1606	c.231G>T	c.(229-231)caG>caT	p.Q77H	ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H|ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	77					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.Q77H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATATTCCAGTGTAATAAAT	0.333																																						uc003ttd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)CAG>CAT		zinc finger protein 107							56.0	52.0	53.0					7																	64166913		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166913G>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.231G>T	7.37:g.64166913G>T	ENSP00000378789:p.Gln77His					ZNF107_uc003tte.2_Missense_Mutation_p.Q77H	p.Q77H	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1017	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	77			C2H2-type 1; atypical.			Missense_Mutation	SNP	ENST00000395391.1	37	c.231G>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	6.817	0.519902	0.13005	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.36520	4.51;1.25;1.25;1.25	0.916	-1.83	0.07833	.	.	.	.	.	T	0.43656	0.1257	M	0.94142	3.5	0.09310	N	1	B	0.25206	0.12	B	0.23018	0.043	T	0.43196	-0.9406	9	0.59425	D	0.04	.	3.3593	0.07181	0.3596:0.2313:0.4091:0.0	.	77	Q9UII5	ZN107_HUMAN	H	77	ENSP00000353234:Q77H;ENSP00000343443:Q77H;ENSP00000400037:Q77H;ENSP00000378789:Q77H	ENSP00000343443:Q77H	Q	+	3	2	ZNF107	63804348	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	-1.325000	0.02687	-2.126000	0.00820	-2.125000	0.00346	CAG		PASS	0.333	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		3	97	3	97	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784768	82784768	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:82784768C>A	ENST00000333891.9	-	2	1526	c.1189G>T	c.(1189-1191)Gtt>Ttt	p.V397F	PCLO_ENST00000423517.2_Missense_Mutation_p.V397F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V397F(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTTTCCAACTCCAGGAGGC	0.587																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(1189-1191)GTT>TTT		piccolo isoform 1							83.0	84.0	84.0					7																	82784768		1989	4168	6157	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784768C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1189G>T	7.37:g.82784768C>A	ENSP00000334319:p.Val397Phe					PCLO_uc003uhv.2_Missense_Mutation_p.V397F	p.V397F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1478	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.1189G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	2.064	-0.414697	0.04766	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.33;2.32	4.11	1.1	0.20463	.	.	.	.	.	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.18871	0.023;0.023	T	0.32666	-0.9898	9	0.87932	D	0	.	2.6874	0.05111	0.0949:0.1595:0.3284:0.4172	.	397;397	Q9Y6V0-5;Q9Y6V0-6	.;.	F	397	ENSP00000334319:V397F;ENSP00000388393:V397F	ENSP00000334319:V397F	V	-	1	0	PCLO	82622704	0.003000	0.15002	0.000000	0.03702	0.659000	0.38960	0.023000	0.13533	0.096000	0.17463	-0.150000	0.13652	GTT		PASS	0.587	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		109	124	109	124	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88424072	88424072	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:88424072C>A	ENST00000297203.2	-	2	370	c.185G>T	c.(184-186)aGa>aTa	p.R62I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	62								p.R62I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AACATCTTTTCTTTCTACATT	0.388																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)AGA>ATA		hypothetical protein LOC219557							123.0	122.0	122.0					7																	88424072		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424072C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.185G>T	7.37:g.88424072C>A	ENSP00000297203:p.Arg62Ile					ZNF804B_uc011khi.1_Intron	p.R62I	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	367	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		62						Missense_Mutation	SNP	ENST00000297203.2	37	c.185G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	8.535	0.871902	0.17322	.	.	ENSG00000164645	ENST00000297203	T	0.18502	2.21	6.16	-0.882	0.10604	.	0.385197	0.28273	N	0.015947	T	0.09024	0.0223	L	0.29908	0.895	0.31790	N	0.629739	B	0.22983	0.078	B	0.21708	0.036	T	0.08973	-1.0696	10	0.87932	D	0	-6.482	1.1614	0.01806	0.1394:0.2237:0.1444:0.4925	.	62	Q8TBZ9	CG062_HUMAN	I	62	ENSP00000297203:R62I	ENSP00000297203:R62I	R	-	2	0	C7orf62	88262008	0.512000	0.26186	0.433000	0.26760	0.018000	0.09664	0.202000	0.17295	-0.042000	0.13535	-1.000000	0.02509	AGA		PASS	0.388	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		111	165	111	165	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107430025	107430025	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:107430025T>A	ENST00000340010.5	-	6	863	c.679A>T	c.(679-681)Aaa>Taa	p.K227*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.K192*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	227					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.K227*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAAATGAATTTGAGTTGGGAA	0.388																																						uc003ver.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(679-681)AAA>TAA		solute carrier family 26, member 3							68.0	63.0	65.0					7																	107430025		2203	4300	6503	SO:0001587	stop_gained	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107430025T>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.679A>T	7.37:g.107430025T>A	ENSP00000345873:p.Lys227*					SLC26A3_uc003ves.2_Nonsense_Mutation_p.K192*	p.K227*	NM_000111	NP_000102	P40879	S26A3_HUMAN			6	890	-			227						Nonsense_Mutation	SNP	ENST00000340010.5	37	c.679A>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	T	39	7.329247	0.98214	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3997	0.74830	0.0:0.0:0.0:1.0	.	.	.	.	X	192;227	.	ENSP00000345873:K227X	K	-	1	0	SLC26A3	107217261	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.474000	0.81024	2.034000	0.60081	0.455000	0.32223	AAA		PASS	0.388	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		25	84	25	84	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519605	113519605	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:113519605A>G	ENST00000284601.3	-	4	1610	c.1542T>C	c.(1540-1542)ggT>ggC	p.G514G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	514					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.G514G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CATCATCCTTACCATTGCCAT	0.338																																						uc010ljy.1																			1	Substitution - coding silent(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1540-1542)GGT>GGC		protein phosphatase 1, regulatory (inhibitor)							64.0	61.0	62.0					7																	113519605		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519605A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1542T>C	7.37:g.113519605A>G							p.G514G	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1573	-			514					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1542T>C	CCDS5759.1																																																																																				PASS	0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		36	104	36	104	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915681	119915681	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:119915681C>T	ENST00000331113.4	+	1	1960	c.995C>T	c.(994-996)aCc>aTc	p.T332I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	332					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.T332I(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTCTCGCTCACCATGGCTATC	0.507																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(994-996)ACC>ATC		potassium voltage-gated channel, Shal-related							158.0	120.0	133.0					7																	119915681		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915681C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.995C>T	7.37:g.119915681C>T	ENSP00000333496:p.Thr332Ile						p.T332I	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1960	+	all_neural(327;0.117)		332			Helical; Name=Segment S5; (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.995C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.740895	0.69304	.	.	ENSG00000184408	ENST00000331113	D	0.97114	-4.25	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	N	0.16307	0.4	0.80722	D	1	B	0.29909	0.261	B	0.40256	0.324	D	0.92007	0.5615	9	.	.	.	.	19.5371	0.95257	0.0:1.0:0.0:0.0	.	332	Q9NZV8	KCND2_HUMAN	I	332	ENSP00000333496:T332I	.	T	+	2	0	KCND2	119702917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.050000	0.71063	2.706000	0.92434	0.557000	0.71058	ACC		PASS	0.507	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		89	105	89	105	---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123517197	123517197	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:123517197C>T	ENST00000223026.4	+	5	2072	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	HYAL4_ENST00000476325.1_Silent_p.S478S	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	478					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.S478S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTTATCGAAGCATTCAGTTGT	0.383																																						uc003vlc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1432-1434)AGC>AGT		hyaluronoglucosaminidase 4							80.0	80.0	80.0					7																	123517197		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123517197C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1434C>T	7.37:g.123517197C>T						HYAL4_uc011knz.1_3'UTR	p.S478S	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	2072	+			478			Cytoplasmic (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1434C>T	CCDS5789.1																																																																																				PASS	0.383	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		81	153	81	153	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133876430	133876430	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:133876430C>A	ENST00000285928.2	+	12	1427	c.1358C>A	c.(1357-1359)cCt>cAt	p.P453H		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	453	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.P453H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACAAGACCACCTTACTTTGGA	0.338																																						uc003vrm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(1357-1359)CCT>CAT		leucine-rich repeats and guanylate kinase domain							147.0	136.0	140.0					7																	133876430		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133876430C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1358C>A	7.37:g.133876430C>A	ENSP00000285928:p.Pro453His						p.P453H	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			12	1374	+			453			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1358C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223453	0.79464	.	.	ENSG00000155530	ENST00000285928	T	0.21734	1.99	5.55	5.55	0.83447	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.072713	0.53938	D	0.000042	T	0.52597	0.1744	M	0.83483	2.645	0.51233	D	0.999917	D	0.89917	1.0	D	0.81914	0.995	T	0.57665	-0.7772	10	0.87932	D	0	-17.096	19.0952	0.93248	0.0:1.0:0.0:0.0	.	453	Q96M69	LRGUK_HUMAN	H	453	ENSP00000285928:P453H	ENSP00000285928:P453H	P	+	2	0	LRGUK	133526970	0.927000	0.31430	0.336000	0.25522	0.912000	0.54170	4.791000	0.62460	2.603000	0.88011	0.555000	0.69702	CCT		PASS	0.338	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		4	215	4	215	---	---	---	---
SLC37A3	84255	broad.mit.edu	37	7	140051150	140051150	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:140051150T>C	ENST00000326232.9	-	9	1008	c.805A>G	c.(805-807)Atc>Gtc	p.I269V	SLC37A3_ENST00000340308.3_Missense_Mutation_p.I269V|SLC37A3_ENST00000447932.2_Missense_Mutation_p.I269V|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	269					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.I269V(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCATCTTGGATTGAATAATTC	0.438																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	uc003vvo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(805-807)ATC>GTC		solute carrier family 37 (glycerol-3-phosphate							170.0	151.0	157.0					7																	140051150		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140051150T>C	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.805A>G	7.37:g.140051150T>C	ENSP00000321498:p.Ile269Val					SLC37A3_uc003vvp.2_Missense_Mutation_p.I269V|SLC37A3_uc010lnh.2_Missense_Mutation_p.I269V|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	p.I269V	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN			9	971	-	Melanoma(164;0.0142)		269					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.805A>G	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.315|4.315	0.057850|0.057850	0.08339|0.08339	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232|ENST00000492027	T;T;T|.	0.16073|.	2.37;2.64;2.64|.	5.2|5.2	1.56|1.56	0.23342|0.23342	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.498004|.	0.22381|.	N|.	0.060805|.	T|T	0.37865|0.37865	0.1019|0.1019	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.001|.	T|T	0.05354|0.05354	-1.0890|-1.0890	10|5	0.11485|.	T|.	0.65|.	-24.5274|-24.5274	8.0836|8.0836	0.30758|0.30758	0.0:0.2586:0.0:0.7414|0.0:0.2586:0.0:0.7414	.|.	269;269;269|.	Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;SPX3_HUMAN|.	V|S	269|3	ENSP00000343358:I269V;ENSP00000397481:I269V;ENSP00000321498:I269V|.	ENSP00000321498:I269V|.	I|N	-|-	1|2	0|0	SLC37A3|SLC37A3	139697619|139697619	0.904000|0.904000	0.30761|0.30761	0.104000|0.104000	0.21259|0.21259	0.605000|0.605000	0.37080|0.37080	1.341000|1.341000	0.33907|0.33907	0.082000|0.082000	0.17018|0.17018	-0.371000|-0.371000	0.07208|0.07208	ATC|AAT		PASS	0.438	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		101	122	101	122	---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148768904	148768904	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:148768904C>A	ENST00000491431.1	-	4	1024	c.960G>T	c.(958-960)cgG>cgT	p.R320R	ZNF786_ENST00000316286.9_Silent_p.R234R|ZNF786_ENST00000451334.3_Silent_p.R283R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	320					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.R319R(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCGGCCCCTCCCGGCTGTGCT	0.721																																						uc003wfh.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(958-960)CGG>CGT		zinc finger protein 786							7.0	9.0	9.0					7																	148768904		1851	3906	5757	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768904C>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.960G>T	7.37:g.148768904C>A						ZNF786_uc011kuk.1_Silent_p.R283R|ZNF786_uc003wfi.2_Silent_p.R234R	p.R320R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1097	-	Melanoma(164;0.15)		320					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.960G>T	CCDS47738.1																																																																																				PASS	0.721	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		6	15	6	15	---	---	---	---
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:150873210C>A	ENST00000420175.2	-	5	1417	c.1393G>T	c.(1393-1395)Gtg>Ttg	p.V465L	ASB10_ENST00000275838.1_Missense_Mutation_p.V427L|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000377867.3_Missense_Mutation_p.V450L|ASB10_ENST00000422024.1_Missense_Mutation_p.V510L|ASB10_ENST00000434669.1_Missense_Mutation_p.V472L			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672																																						uc003wjm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1528-1530)GTG>TTG		ankyrin repeat and SOCS box-containing 10							24.0	26.0	25.0					7																	150873210		2199	4295	6494	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150873210C>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1393G>T	7.37:g.150873210C>A	ENSP00000391137:p.Val465Leu					ASB10_uc003wjl.1_Missense_Mutation_p.V472L|ASB10_uc003wjn.1_Missense_Mutation_p.V450L	p.V510L	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1654	-			465					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1528G>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940134	0.34283	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.67865	-0.28;-0.22;-0.25;-0.29;-0.23	4.73	1.29	0.21616	.	0.402814	0.25944	N	0.027292	T	0.48314	0.1493	L	0.28400	0.85	0.22240	N	0.999269	B;B;B	0.22851	0.076;0.005;0.013	B;B;B	0.21360	0.034;0.01;0.01	T	0.35773	-0.9775	10	0.42905	T	0.14	-4.0365	6.6198	0.22796	0.0:0.6147:0.1575:0.2278	.	450;465;472	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	L	427;450;510;472;465	ENSP00000275838:V427L;ENSP00000367098:V450L;ENSP00000401369:V510L;ENSP00000398247:V472L;ENSP00000391137:V465L	ENSP00000275838:V427L	V	-	1	0	ASB10	150504143	0.009000	0.17119	0.919000	0.36401	0.984000	0.73092	-0.206000	0.09398	0.392000	0.25172	0.655000	0.94253	GTG		PASS	0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		20	27	20	27	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154561232	154561232	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:154561232C>A	ENST00000377770.3	+	9	1130	c.989C>A	c.(988-990)aCt>aAt	p.T330N	DPP6_ENST00000332007.3_Missense_Mutation_p.T268N|DPP6_ENST00000427557.1_Missense_Mutation_p.T223N|DPP6_ENST00000404039.1_Missense_Mutation_p.T266N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	330					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.T330N(1)|p.T266N(1)|p.T268N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGCTCCCAACTTACACCGGC	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(988-990)ACT>AAT		dipeptidyl-peptidase 6 isoform 1							56.0	56.0	56.0					7																	154561232		1990	4154	6144	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154561232C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.989C>A	7.37:g.154561232C>A	ENSP00000367001:p.Thr330Asn					DPP6_uc003wli.2_Missense_Mutation_p.T266N|DPP6_uc003wlm.2_Missense_Mutation_p.T268N|DPP6_uc011kvq.1_Missense_Mutation_p.T223N	p.T330N	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		9	1118	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	330			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.989C>A		.	.	.	.	.	.	.	.	.	.	C	12.35	1.911843	0.33721	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.28	5.28	0.74379	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.292814	0.41097	D	0.000960	T	0.21267	0.0512	N	0.19112	0.55	0.39918	D	0.974123	B;P;P;P	0.47762	0.148;0.538;0.9;0.747	B;B;P;B	0.45881	0.266;0.218;0.496;0.4	T	0.02781	-1.1111	10	0.28530	T	0.3	-21.0281	6.8616	0.24069	0.0:0.786:0.0:0.214	.	223;268;330;266	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	N	266;330;268;223	ENSP00000385578:T266N;ENSP00000367001:T330N;ENSP00000328226:T268N;ENSP00000397303:T223N	ENSP00000328226:T268N	T	+	2	0	DPP6	154192165	0.977000	0.34250	0.950000	0.38849	0.412000	0.31113	4.651000	0.61447	2.469000	0.83416	0.655000	0.94253	ACT		PASS	0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		49	32	49	32	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154672604	154672604	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr7:154672604G>T	ENST00000377770.3	+	21	2226	c.2085G>T	c.(2083-2085)atG>atT	p.M695I	DPP6_ENST00000332007.3_Missense_Mutation_p.M633I|DPP6_ENST00000427557.1_Missense_Mutation_p.M588I|DPP6_ENST00000404039.1_Missense_Mutation_p.M631I			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	695					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.M633I(1)|p.M631I(1)|p.M695I(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACAGGACGATGCTGAAGGAGC	0.562																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(2083-2085)ATG>ATT		dipeptidyl-peptidase 6 isoform 1							104.0	115.0	112.0					7																	154672604		2135	4238	6373	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154672604G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2085G>T	7.37:g.154672604G>T	ENSP00000367001:p.Met695Ile					DPP6_uc003wli.2_Missense_Mutation_p.M631I|DPP6_uc003wlm.2_Missense_Mutation_p.M633I|DPP6_uc011kvq.1_Missense_Mutation_p.M588I	p.M695I	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		21	2214	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	695			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2085G>T		.	.	.	.	.	.	.	.	.	.	G	9.685	1.150258	0.21371	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.54	4.54	0.55810	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.040234	0.85682	D	0.000000	T	0.26774	0.0655	N	0.26130	0.795	0.45477	D	0.998445	B;B;B;B	0.24186	0.099;0.066;0.082;0.082	B;B;B;B	0.28011	0.085;0.018;0.065;0.03	T	0.08617	-1.0713	10	0.51188	T	0.08	-35.864	17.2999	0.87180	0.0:0.0:1.0:0.0	.	588;633;695;631	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	I	631;695;633;588	ENSP00000385578:M631I;ENSP00000367001:M695I;ENSP00000328226:M633I;ENSP00000397303:M588I	ENSP00000328226:M633I	M	+	3	0	DPP6	154303537	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	3.037000	0.49775	2.061000	0.61500	0.313000	0.20887	ATG		PASS	0.562	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		16	117	16	117	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9605566	9605566	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:9605566C>T	ENST00000310430.6	+	18	2702	c.2676C>T	c.(2674-2676)taC>taT	p.Y892Y	TNKS_ENST00000518281.1_Silent_p.Y655Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	892					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.Y892Y(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGATAAAATACAACACGTGTG	0.438																																						uc003wss.2																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(2674-2676)TAC>TAT		tankyrase, TRF1-interacting ankyrin-related							75.0	78.0	77.0					8																	9605566		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9605566C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2676C>T	8.37:g.9605566C>T						TNKS_uc011kww.1_Silent_p.Y655Y|TNKS_uc010lrt.1_RNA	p.Y892Y	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	2681	+			892			ANK 14.		O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2676C>T	CCDS5974.1																																																																																				PASS	0.438	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		56	87	56	87	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470776	10470776	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:10470776G>T	ENST00000382483.3	-	4	1055	c.832C>A	c.(832-834)Cct>Act	p.P278T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	278					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P278T(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTAGGACCAGGCCTTTCTGGC	0.667																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(832-834)CCT>ACT		retinitis pigmentosa 1-like 1							55.0	62.0	59.0					8																	10470776		1979	4156	6135	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470776G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.832C>A	8.37:g.10470776G>T	ENSP00000371923:p.Pro278Thr						p.P278T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1061	-			278					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.832C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620462	0.14193	.	.	ENSG00000183638	ENST00000382483	T	0.04015	3.73	4.47	-0.987	0.10249	.	1.237260	0.06257	U	0.693261	T	0.02727	0.0082	N	0.22421	0.69	0.19300	N	0.999978	P	0.43231	0.801	B	0.40782	0.34	T	0.23583	-1.0184	10	0.05833	T	0.94	-0.6878	1.4853	0.02445	0.554:0.1473:0.1566:0.1421	.	278	A6NKC6	.	T	278	ENSP00000371923:P278T	ENSP00000371923:P278T	P	-	1	0	RP1L1	10508186	0.998000	0.40836	0.001000	0.08648	0.000000	0.00434	1.601000	0.36773	-0.341000	0.08376	-0.362000	0.07510	CCT		PASS	0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			47	56	47	56	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004839	20004839	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:20004839C>A	ENST00000276373.5	-	15	1660	c.1394G>T	c.(1393-1395)gGg>gTg	p.G465V	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G465V|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G433V|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G433V|SLC18A1_ENST00000437980.1_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	465					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G465V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	GTTGATGACCCCAGTGATGAC	0.512																																						uc011kyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1393-1395)GGG>GTG		solute carrier family 18 (vesicular monoamine),							98.0	83.0	88.0					8																	20004839		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004839C>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1394G>T	8.37:g.20004839C>A	ENSP00000276373:p.Gly465Val					SLC18A1_uc003wzl.2_Missense_Mutation_p.G252V|SLC18A1_uc003wzm.2_Missense_Mutation_p.G465V|SLC18A1_uc011kyr.1_Intron|SLC18A1_uc003wzn.2_Missense_Mutation_p.G433V|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G433V	p.G465V	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1865	-			465			Helical; (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1394G>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861401	0.91433	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;D;D;T	0.81908	0.07;-1.55;-1.55;0.07	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050565	0.85682	D	0.000000	D	0.92090	0.7493	M	0.89287	3.02	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69307	0.949;0.963	D	0.93333	0.6703	10	0.72032	D	0.01	-13.6982	17.0585	0.86541	0.0:1.0:0.0:0.0	.	433;465	E9PDJ5;P54219	.;VMAT1_HUMAN	V	433;465;465;433	ENSP00000265808:G433V;ENSP00000276373:G465V;ENSP00000387549:G465V;ENSP00000429664:G433V	ENSP00000265808:G433V	G	-	2	0	SLC18A1	20049119	1.000000	0.71417	0.890000	0.34922	0.961000	0.63080	5.723000	0.68492	2.612000	0.88384	0.563000	0.77884	GGG		PASS	0.512	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			31	42	31	42	---	---	---	---
PNOC	5368	broad.mit.edu	37	8	28196728	28196729	+	Missense_Mutation	DNP	CG	CG	GA	rs372130597|rs533728896	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:28196728_28196729CG>GA	ENST00000301908.3	+	3	506_507	c.298_299CG>GA	c.(298-300)CGa>GAa	p.R100E	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Missense_Mutation_p.R36E	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	100					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R100E(1)|p.R100G(1)|p.R100Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GCGAATGCCCCGAGTCCGGAGC	0.634																																						uc010lva.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(298-300)CGA>GGA|c.(298-300)CGA>CAA		prepronociceptin precursor																																				SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196728C>G|g.chr8:28196729G>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	Exception_encountered	8.37:g.28196728_28196729delinsGA	ENSP00000301908:p.Arg100Glu					PNOC_uc003xgp.2_Missense_Mutation_p.R100G|PNOC_uc011lau.1_Missense_Mutation_p.R36G|PNOC_uc003xgp.2_Missense_Mutation_p.R100Q|PNOC_uc011lau.1_Missense_Mutation_p.R36Q	p.R100G|p.R100Q	NM_006228	NP_006219	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	506|507	+		Ovarian(32;0.000953)	100					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.298C>G|c.299G>A	CCDS6066.1																																																																																				PASS	0.634	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		29|31	30	29	30	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42612075	42612075	+	Missense_Mutation	SNP	T	T	C	rs200592176		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:42612075T>C	ENST00000276410.2	-	4	725	c.370A>G	c.(370-372)Aac>Gac	p.N124D	CHRNA6_ENST00000534622.1_Missense_Mutation_p.N109D|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	124					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.N124D(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CCATACTTGTTATAGAGAACA	0.448																																						uc003xpj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)AAC>GAC		cholinergic receptor, nicotinic, alpha 6							100.0	102.0	101.0					8																	42612075		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42612075T>C	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.370A>G	8.37:g.42612075T>C	ENSP00000276410:p.Asn124Asp					CHRNA6_uc011lcw.1_Missense_Mutation_p.N109D	p.N124D	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	416	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	124			Extracellular.		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.370A>G	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613734	0.66672	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	D;D;D	0.86562	-2.14;-2.14;-2.14	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.73753	2.245	0.54753	D	0.999985	D;D	0.67145	0.991;0.996	D;D	0.76575	0.973;0.988	D	0.92738	0.6205	10	0.72032	D	0.01	.	10.8116	0.46551	0.0:0.0791:0.0:0.9209	.	109;124	B4DQH1;Q15825	.;ACHA6_HUMAN	D	124;109;45	ENSP00000276410:N124D;ENSP00000433871:N109D;ENSP00000434659:N45D	ENSP00000276410:N124D	N	-	1	0	CHRNA6	42731232	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	3.445000	0.52921	2.218000	0.71995	0.533000	0.62120	AAC		PASS	0.448	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			10	111	10	111	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42924730	42924730	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:42924730A>T	ENST00000302279.3	+	4	628	c.434A>T	c.(433-435)cAg>cTg	p.Q145L	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.Q102L|FNTA_ENST00000342116.4_Missense_Mutation_p.Q78L	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	145					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.Q145L(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAGTCACTTCAGAAGGATCTA	0.393																																						uc003xps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)CAG>CTG		farnesyltransferase, CAAX box, alpha isoform a							102.0	96.0	98.0					8																	42924730		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42924730A>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.434A>T	8.37:g.42924730A>T	ENSP00000303423:p.Gln145Leu					FNTA_uc003xpt.2_Missense_Mutation_p.Q54L|FNTA_uc003xpu.2_Missense_Mutation_p.Q78L|FNTA_uc003xpv.2_RNA	p.Q145L	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		4	482	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	145			PFTA 1.		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.434A>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818222	0.32145	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000533336	.	.	.	4.76	4.76	0.60689	Protein prenyltransferase (1);	0.549111	0.20620	N	0.088786	T	0.37237	0.0996	N	0.14661	0.345	0.34105	D	0.662268	B;B;B	0.18461	0.022;0.019;0.028	B;B;B	0.27170	0.046;0.04;0.077	T	0.47636	-0.9102	9	0.33141	T	0.24	-3.4984	12.2709	0.54706	1.0:0.0:0.0:0.0	.	78;54;145	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	L	102;145;78;127;83	.	ENSP00000303423:Q145L	Q	+	2	0	FNTA;RP11-598P20.5	43043887	1.000000	0.71417	0.998000	0.56505	0.439000	0.31926	4.908000	0.63307	1.800000	0.52685	0.138000	0.15974	CAG		PASS	0.393	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		6	90	6	90	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51465633	51465633	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:51465633C>A	ENST00000522124.1	+	12	1365	c.704C>A	c.(703-705)gCt>gAt	p.A235D	SNTG1_ENST00000276467.5_Missense_Mutation_p.A235D|SNTG1_ENST00000517473.1_Missense_Mutation_p.A235D|SNTG1_ENST00000518864.1_Missense_Mutation_p.A235D	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	235					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.A235D(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAAGTCATTGCTGTGGATGGG	0.423																																						uc010lxy.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(703-705)GCT>GAT		syntrophin, gamma 1							144.0	123.0	130.0					8																	51465633		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51465633C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.704C>A	8.37:g.51465633C>A	ENSP00000429842:p.Ala235Asp					SNTG1_uc003xqs.1_Missense_Mutation_p.A235D|SNTG1_uc010lxz.1_Missense_Mutation_p.A235D|SNTG1_uc011ldl.1_RNA	p.A235D	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			13	1075	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	235					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.704C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697936	0.88830	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.987	T	0.79761	-0.1667	10	0.87932	D	0	.	17.7901	0.88550	0.0:1.0:0.0:0.0	.	235;235	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	D	235	ENSP00000429276:A235D;ENSP00000429842:A235D;ENSP00000431123:A235D;ENSP00000276467:A235D	ENSP00000276467:A235D	A	+	2	0	SNTG1	51628186	1.000000	0.71417	0.949000	0.38748	0.965000	0.64279	6.985000	0.76193	2.437000	0.82529	0.558000	0.71614	GCT		PASS	0.423	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			12	87	12	87	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52366272	52366272	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:52366272C>A	ENST00000356297.4	-	10	1156	c.1056G>T	c.(1054-1056)atG>atT	p.M352I	PXDNL_ENST00000543296.1_Missense_Mutation_p.M352I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	352	Ig-like C2-type 2.				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.M352I(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)				GGCCTGTGGCCATACATTCCA	0.502																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1054-1056)ATG>ATT		peroxidasin homolog-like precursor							118.0	117.0	118.0					8																	52366272		1995	4159	6154	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366272C>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.1056G>T	8.37:g.52366272C>A	ENSP00000348645:p.Met352Ile						p.M352I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1157	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	352			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1056G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	4.904	0.167941	0.09339	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66280	-0.2;-0.2	4.14	3.26	0.37387	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34164	0.0888	N	0.03071	-0.42	0.20975	N	0.999813	B	0.27117	0.168	B	0.20767	0.031	T	0.17745	-1.0359	9	0.38643	T	0.18	.	7.853	0.29466	0.0:0.8821:0.0:0.1179	.	352	A1KZ92	PXDNL_HUMAN	I	352	ENSP00000348645:M352I;ENSP00000444865:M352I	ENSP00000348645:M352I	M	-	3	0	PXDNL	52528825	0.997000	0.39634	0.038000	0.18304	0.271000	0.26615	0.421000	0.21280	0.723000	0.32274	0.591000	0.81541	ATG		PASS	0.502	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	70	3	70	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67040638	67040638	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:67040638C>T	ENST00000315962.4	+	2	641	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	TRIM55_ENST00000276573.7_Missense_Mutation_p.H90Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.H90Y|TRIM55_ENST00000350034.4_Missense_Mutation_p.H90Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	90					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.H90Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTTGGATAGACATGGGGTATA	0.507																																						uc003xvv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(268-270)CAT>TAT		tripartite motif-containing 55 isoform 1							161.0	160.0	161.0					8																	67040638		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040638C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.268C>T	8.37:g.67040638C>T	ENSP00000323913:p.His90Tyr					TRIM55_uc003xvu.2_Missense_Mutation_p.H90Y|TRIM55_uc003xvw.2_Missense_Mutation_p.H90Y|TRIM55_uc003xvx.2_Missense_Mutation_p.H90Y	p.H90Y	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	494	+		Lung NSC(129;0.138)|all_lung(136;0.221)	90					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.268C>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245739	0.95272	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39406	1.53;1.57;1.53;1.08	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.80982	2.52	0.80722	D	1	D;P;P;B	0.55172	0.97;0.847;0.626;0.338	P;P;B;B	0.55577	0.779;0.615;0.373;0.26	T	0.65487	-0.6156	10	0.54805	T	0.06	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	90;90;90;90	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	Y	90	ENSP00000323913:H90Y;ENSP00000297348:H90Y;ENSP00000276573:H90Y;ENSP00000332302:H90Y	ENSP00000276573:H90Y	H	+	1	0	TRIM55	67203192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.747000	0.94245	0.650000	0.86243	CAT		PASS	0.507	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		49	200	49	200	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68956792	68956792	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:68956792G>T	ENST00000288368.4	+	8	1187	c.910G>T	c.(910-912)Gtg>Ttg	p.V304L	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	304	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.V304L(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						CAACACGGAGGTGATGGAAGT	0.408																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(910-912)GTG>TTG		DEP domain containing 2 isoform a							160.0	149.0	153.0					8																	68956792		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.chr8:68956792G>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.910G>T	8.37:g.68956792G>T	ENSP00000288368:p.Val304Leu					PREX2_uc003xxu.1_Missense_Mutation_p.V304L|PREX2_uc011lez.1_Missense_Mutation_p.V239L	p.V304L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			8	937	+			304			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.910G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186314	0.94885	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.87412	-2.25	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	N	0.05124	-0.11	0.80722	D	1	D;P;P	0.89917	1.0;0.589;0.867	D;B;P	0.87578	0.998;0.298;0.54	D	0.87774	0.2607	10	0.34782	T	0.22	.	19.9946	0.97381	0.0:0.0:1.0:0.0	.	304;304;304	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	304	ENSP00000288368:V304L	ENSP00000288368:V304L	V	+	1	0	PREX2	69119346	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.797000	0.99108	2.728000	0.93425	0.591000	0.81541	GTG		PASS	0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		29	77	29	77	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767351	77767351	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:77767351T>A	ENST00000521891.2	+	10	8642	c.8194T>A	c.(8194-8196)Tac>Aac	p.Y2732N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y2706N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y2687N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y2687N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Y2716N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTATTTTGATTACCCATCTTT	0.423										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8059-8061)TAC>AAC		zinc finger homeodomain 4							91.0	87.0	88.0					8																	77767351		1882	4108	5990	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767351T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8194T>A	8.37:g.77767351T>A	ENSP00000430497:p.Tyr2732Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Y2732N|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y2687N	p.Y2687N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8446	+			2687					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8059T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	4.870	0.161652	0.09287	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50277	0.75;0.8;0.77;0.76	5.13	5.13	0.70059	.	0.000000	0.40469	U	0.001089	T	0.54319	0.1851	L	0.50333	1.59	0.58432	D	0.999993	B;B;B	0.25169	0.073;0.119;0.119	B;B;B	0.43478	0.105;0.211;0.421	T	0.51903	-0.8646	10	0.28530	T	0.3	.	15.0939	0.72217	0.0:0.0:0.0:1.0	.	2687;2687;2732	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	2732;2716;2687;2687;2706	ENSP00000430497:Y2732N;ENSP00000399605:Y2687N;ENSP00000050961:Y2687N;ENSP00000430848:Y2706N	ENSP00000050961:Y2687N	Y	+	1	0	ZFHX4	77929906	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	4.901000	0.63259	2.161000	0.67846	0.454000	0.30748	TAC		PASS	0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	38	12	38	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77768456	77768456	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:77768456G>T	ENST00000521891.2	+	10	9747	c.9299G>T	c.(9298-9300)gGa>gTa	p.G3100V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3074V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3055V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3055V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3055	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G3084V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTACCCCGGACTCCCCGGC	0.542										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9163-9165)GGA>GTA		zinc finger homeodomain 4							52.0	55.0	54.0					8																	77768456		2004	4178	6182	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768456G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9299G>T	8.37:g.77768456G>T	ENSP00000430497:p.Gly3100Val	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G3100V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G3055V	p.G3055V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9551	+			3055			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9164G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385638	0.25031	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.79;0.77;0.75	5.45	5.45	0.79879	.	0.000000	0.43416	U	0.000561	T	0.68109	0.2965	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.963;0.981;0.993	T	0.69198	-0.5208	10	0.87932	D	0	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	3055;3055;3100	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	3100;3084;3055;3055;3074	ENSP00000430497:G3100V;ENSP00000399605:G3055V;ENSP00000050961:G3055V;ENSP00000430848:G3074V	ENSP00000050961:G3055V	G	+	2	0	ZFHX4	77931011	1.000000	0.71417	0.999000	0.59377	0.105000	0.19272	6.456000	0.73501	2.836000	0.97738	0.655000	0.94253	GGA		PASS	0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		40	65	40	65	---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82606863	82606863	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:82606863A>T	ENST00000518568.1	-	1	1546	c.345T>A	c.(343-345)atT>atA	p.I115I		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	115						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.I115I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TGATTTCTTCAATGAGTCTTT	0.358																																						uc011lfs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)ATT>ATA		solute carrier family 10 (sodium/bile acid							142.0	132.0	135.0					8																	82606863		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606863A>T		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.345T>A	8.37:g.82606863A>T							p.I115I	NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN			1	345	-			115			Extracellular (Potential).		B2RN26	Silent	SNP	ENST00000518568.1	37	c.345T>A	CCDS34915.1																																																																																				PASS	0.358	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		69	103	69	103	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85686874	85686874	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:85686874T>C	ENST00000521268.1	+	3	1422	c.317T>C	c.(316-318)cTt>cCt	p.L106P	RALYL_ENST00000522455.1_Missense_Mutation_p.L106P|RALYL_ENST00000521695.1_Missense_Mutation_p.L106P|RALYL_ENST00000518566.1_Missense_Mutation_p.L106P|RALYL_ENST00000517638.1_Missense_Mutation_p.L119P|RALYL_ENST00000523850.1_Missense_Mutation_p.L33P|RALYL_ENST00000521376.1_Missense_Mutation_p.L33P	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	106							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L106P(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAGAGGCCCCTTTCTGCACTT	0.358																																						uc003ycq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(316-318)CTT>CCT		RALY RNA binding protein-like isoform 2							65.0	64.0	64.0					8																	85686874		1818	4090	5908	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85686874T>C		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.317T>C	8.37:g.85686874T>C	ENSP00000430367:p.Leu106Pro					RALYL_uc003ycr.3_Missense_Mutation_p.L106P|RALYL_uc003ycs.3_Missense_Mutation_p.L106P|RALYL_uc010lzy.2_Missense_Mutation_p.L106P|RALYL_uc003yct.3_Missense_Mutation_p.L119P|RALYL_uc003ycu.3_Missense_Mutation_p.L33P|RALYL_uc003ycv.3_Missense_Mutation_p.L18P	p.L106P	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			4	733	+			106					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.317T>C	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.374669	0.82573	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.19105	2.86;2.86;2.86;2.84;2.87;2.4;2.17	5.78	5.78	0.91487	.	0.258350	0.39759	N	0.001271	T	0.39172	0.1068	L	0.54323	1.7	0.58432	D	0.999998	P;D;D;P;D	0.63046	0.786;0.992;0.988;0.951;0.992	B;P;D;P;P	0.63192	0.411;0.899;0.912;0.702;0.899	T	0.13926	-1.0491	10	0.66056	D	0.02	-1.8694	13.623	0.62149	0.0:0.0:0.0:1.0	.	106;106;33;119;106	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	P	106;106;106;106;119;33;33	ENSP00000430394:L106P;ENSP00000428667:L106P;ENSP00000430367:L106P;ENSP00000430065:L106P;ENSP00000430128:L119P;ENSP00000428807:L33P;ENSP00000428310:L33P	ENSP00000430128:L119P	L	+	2	0	RALYL	85849429	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.220000	0.72237	2.199000	0.70637	0.533000	0.62120	CTT		PASS	0.358	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			13	34	13	34	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87738769	87738769	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:87738769C>G	ENST00000320005.5	-	3	375	c.328G>C	c.(328-330)Ggt>Cgt	p.G110R	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	110					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G110R(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGTTTGGACCTTCTTTCCCG	0.453																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(328-330)GGT>CGT		cyclic nucleotide gated channel beta 3							283.0	263.0	270.0					8																	87738769		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87738769C>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.328G>C	8.37:g.87738769C>G	ENSP00000316605:p.Gly110Arg						p.G110R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			3	374	-			110			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.328G>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	2.766	-0.256818	0.05829	.	.	ENSG00000170289	ENST00000320005	T	0.60672	0.17	5.45	-0.109	0.13584	.	.	.	.	.	T	0.30759	0.0775	N	0.11927	0.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16600	-1.0397	9	0.17832	T	0.49	.	3.7298	0.08488	0.176:0.327:0.0:0.4969	.	110	Q9NQW8	CNGB3_HUMAN	R	110	ENSP00000316605:G110R	ENSP00000316605:G110R	G	-	1	0	CNGB3	87807885	0.007000	0.16637	0.003000	0.11579	0.039000	0.13416	-0.368000	0.07543	-0.100000	0.12241	-0.717000	0.03617	GGT		PASS	0.453	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		73	255	73	255	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105080743	105080743	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:105080743C>A	ENST00000436393.2	+	20	2865	c.2624C>A	c.(2623-2625)aCt>aAt	p.T875N	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCGATAGGTACTATGGATATA	0.378										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2623-2625)ACT>AAT		regulating synaptic membrane exocytosis 2							13.0	13.0	13.0					8																	105080743		875	1989	2864	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105080743C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2624C>A	8.37:g.105080743C>A	ENSP00000390665:p.Thr875Asn	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.T948N|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.T875N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		20	2865	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2624C>A		.	.	.	.	.	.	.	.	.	.	C	14.54	2.567347	0.45694	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.16073	2.37;2.73	5.3	5.3	0.74995	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.02893	-1.1097	8	0.34782	T	0.22	.	18.9521	0.92644	0.0:1.0:0.0:0.0	.	875	D6RA03	.	N	948;875	ENSP00000386228:T948N;ENSP00000390665:T875N	ENSP00000386228:T948N	T	+	2	0	RIMS2	105149919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.827000	0.55745	2.472000	0.83506	0.655000	0.94253	ACT		PASS	0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	11	6	11	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105367345	105367345	+	Silent	SNP	C	C	T	rs559129142		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:105367345C>T	ENST00000297581.2	+	3	1319	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	424					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.L424L(1)									GCATGCAAAGCTGCTTAAAAA	0.463																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1270-1272)CTG>TTG		dendritic cell-specific transmembrane protein							88.0	89.0	88.0					8																	105367345		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367345C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1270C>T	8.37:g.105367345C>T							p.L424L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1319	+			424			Cytoplasmic.		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1270C>T	CCDS6301.1																																																																																				PASS	0.463	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		23	125	23	125	---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109241385	109241385	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:109241385C>T	ENST00000220849.5	-	6	573	c.511G>A	c.(511-513)Gga>Aga	p.G171R	EIF3E_ENST00000519517.1_5'UTR|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Missense_Mutation_p.G78R	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.G171R(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GCCAGCTTTCCCCAGAGTGAA	0.348																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(511-513)GGA>AGA		eukaryotic translation initiation factor 3,							89.0	86.0	87.0					8																	109241385		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109241385C>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.511G>A	8.37:g.109241385C>T	ENSP00000220849:p.Gly171Arg					EIF3E_uc003ymt.2_Missense_Mutation_p.G122R|EIF3E_uc003ymv.2_Missense_Mutation_p.G78R|EIF3E_uc010mci.1_Missense_Mutation_p.G171R	p.G171R	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	539	-			171			Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.511G>A	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106686	0.94292	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.54479	0.57;0.57;0.57	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.976;0.996	D	0.84769	0.0766	9	.	.	.	-18.7353	19.3726	0.94495	0.0:1.0:0.0:0.0	.	171;171	B2R806;P60228	.;EIF3E_HUMAN	R	171;78;44	ENSP00000220849:G171R;ENSP00000428796:G78R;ENSP00000430839:G44R	.	G	-	1	0	EIF3E	109310561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.701000	0.84566	2.648000	0.89879	0.585000	0.79938	GGA		PASS	0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		34	151	34	151	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110439245	110439245	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:110439245G>C	ENST00000378402.5	+	25	2964	c.2860G>C	c.(2860-2862)Gtg>Ctg	p.V954L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	954					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V956L(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)			CCCCGCTGCTGTGTCAGCTGC	0.557										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.(2860-2862)GTG>CTG		fibrocystin L precursor							74.0	77.0	76.0					8																	110439245		1991	4166	6157	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439245G>C	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.2860G>C	8.37:g.110439245G>C	ENSP00000367655:p.Val954Leu	HNSCC(38;0.096)					p.V954L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	2964	+			954			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2860G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962471	0.34659	.	.	ENSG00000205038	ENST00000378402	D	0.86030	-2.06	5.15	4.25	0.50352	.	0.087086	0.48286	D	0.000181	T	0.78629	0.4313	L	0.46157	1.445	0.21499	N	0.999664	B	0.25441	0.126	B	0.21151	0.033	T	0.68239	-0.5461	10	0.41790	T	0.15	.	10.1254	0.42646	0.098:0.0:0.9019:0.0	.	954	Q86WI1	PKHL1_HUMAN	L	954	ENSP00000367655:V954L	ENSP00000367655:V954L	V	+	1	0	PKHD1L1	110508421	0.990000	0.36364	0.971000	0.41717	0.902000	0.53008	2.427000	0.44740	2.550000	0.86006	0.585000	0.79938	GTG		PASS	0.557	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		80	110	80	110	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110520439	110520439	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:110520439C>A	ENST00000378402.5	+	70	11445	c.11341C>A	c.(11341-11343)Cga>Aga	p.R3781R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3781					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R3785R(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)			CACAGAAACTCGAAGACTTTC	0.393										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11341-11343)CGA>AGA		fibrocystin L precursor							188.0	185.0	186.0					8																	110520439		1866	4096	5962	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110520439C>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.11341C>A	8.37:g.110520439C>A		HNSCC(38;0.096)					p.R3781R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		70	11445	+			3781			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11341C>A	CCDS47911.1																																																																																				PASS	0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	246	4	246	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113275908	113275908	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:113275908T>C	ENST00000297405.5	-	61	10066	c.9822A>G	c.(9820-9822)gtA>gtG	p.V3274V	CSMD3_ENST00000455883.2_Silent_p.V3105V|CSMD3_ENST00000343508.3_Silent_p.V3234V|CSMD3_ENST00000352409.3_Silent_p.V3204V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3274	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V3274V(1)|p.V3234V(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						TACCATTCCCTACACAGGTCA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(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.(9820-9822)GTA>GTG		CUB and Sushi multiple domains 3 isoform 1							97.0	83.0	88.0					8																	113275908		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113275908T>C	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.9822A>G	8.37:g.113275908T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.V2476V|CSMD3_uc003ynt.2_Silent_p.V3234V|CSMD3_uc011lhx.1_Silent_p.V3105V	p.V3274V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9981	-			3274			Sushi 25.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9822A>G	CCDS6315.1																																																																																				PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	76	18	76	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113293450	113293450	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:113293450T>A	ENST00000297405.5	-	59	9705	c.9461A>T	c.(9460-9462)cAg>cTg	p.Q3154L	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2985L|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3114L|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3084L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3154	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q3154L(1)|p.Q3114L(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						GGCTGTGCACTGTCTAACTGA	0.368										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.(9460-9462)CAG>CTG		CUB and Sushi multiple domains 3 isoform 1							121.0	113.0	115.0					8																	113293450		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293450T>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.9461A>T	8.37:g.113293450T>A	ENSP00000297405:p.Gln3154Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q2356L|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3114L|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2985L	p.Q3154L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9620	-			3154			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9461A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125436	0.56721	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.242250	0.34314	N	0.004066	T	0.50034	0.1592	L	0.33792	1.035	0.44508	D	0.997456	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.17979	0.017;0.02;0.002	T	0.45745	-0.9240	10	0.09338	T	0.73	.	15.6085	0.76696	0.0:0.0:0.0:1.0	.	2985;3154;3114	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3114;3154;2424;2985;3084	ENSP00000345799:Q3114L;ENSP00000297405:Q3154L;ENSP00000341558:Q2424L;ENSP00000412263:Q2985L;ENSP00000343124:Q3084L	ENSP00000297405:Q3154L	Q	-	2	0	CSMD3	113362626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.451000	0.52964	2.086000	0.62901	0.524000	0.50904	CAG		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	127	37	127	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131226848	131226848	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:131226848T>G	ENST00000518721.1	-	5	586	c.359A>C	c.(358-360)aAg>aCg	p.K120T	ASAP1_ENST00000357668.1_Missense_Mutation_p.K120T	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	120					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.K120T(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGTAGAAAACTTGACAAACGC	0.368																																						uc003yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(358-360)AAG>ACG		development and differentiation enhancing factor							86.0	90.0	89.0					8																	131226848		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131226848T>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.359A>C	8.37:g.131226848T>G	ENSP00000429900:p.Lys120Thr					ASAP1_uc011liw.1_Missense_Mutation_p.K113T	p.K120T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			4	387	-			120					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.359A>C	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251434	0.59212	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	T;T;T	0.05649	3.41;3.41;3.41	5.28	5.28	0.74379	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	L	0.43152	1.355	0.80722	D	1	B;B	0.26483	0.15;0.15	B;B	0.19946	0.027;0.027	T	0.12167	-1.0558	10	0.52906	T	0.07	.	14.6843	0.69040	0.0:0.0:0.0:1.0	.	120;120	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	T	120;120;120;90	ENSP00000350297:K120T;ENSP00000429900:K120T;ENSP00000430588:K90T	ENSP00000344591:K120T	K	-	2	0	ASAP1	131296030	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.606000	0.82863	2.131000	0.65755	0.477000	0.44152	AAG		PASS	0.368	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		47	85	47	85	---	---	---	---
TMEM71	137835	broad.mit.edu	37	8	133764104	133764104	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:133764104G>C	ENST00000356838.3	-	4	383	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	TMEM71_ENST00000523829.1_Missense_Mutation_p.L81V|TMEM71_ENST00000377901.4_Missense_Mutation_p.L81V|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	81						integral component of membrane (GO:0016021)		p.L81V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTGTCGCACAGGAAGCTGTCT	0.473																																						uc003ytp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(241-243)CTG>GTG		transmembrane protein 71 isoform 1							172.0	156.0	161.0					8																	133764104		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133764104G>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.241C>G	8.37:g.133764104G>C	ENSP00000349296:p.Leu81Val					TMEM71_uc003ytn.2_Missense_Mutation_p.L81V|TMEM71_uc003yto.2_Missense_Mutation_p.L81V	p.L81V	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	470	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		81					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.241C>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201160	0.38905	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.81	2.0	0.26442	.	0.873193	0.10172	N	0.707004	T	0.54464	0.1860	M	0.69823	2.125	0.09310	N	0.999993	P;P;D	0.61697	0.873;0.925;0.99	P;P;P	0.57502	0.523;0.453;0.822	T	0.40156	-0.9578	9	0.34782	T	0.22	-1.2855	8.6882	0.34251	0.2996:0.0:0.7004:0.0	.	81;81;81	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	V	81	.	ENSP00000349296:L81V	L	-	1	2	TMEM71	133833286	0.112000	0.22096	0.240000	0.24138	0.129000	0.20672	0.059000	0.14322	0.082000	0.17018	0.655000	0.94253	CTG		PASS	0.473	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		41	146	41	146	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139614365	139614365	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:139614365C>G	ENST00000303045.6	-	60	4624	c.4178G>C	c.(4177-4179)gGa>gCa	p.G1393A	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1373A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1393	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1393A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCCTTTCTCCTTTGAATCC	0.587										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4177-4179)GGA>GCA		collagen, type XXII, alpha 1							167.0	133.0	145.0					8																	139614365		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139614365C>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4178G>C	8.37:g.139614365C>G	ENSP00000303153:p.Gly1393Ala	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G673A	p.G1393A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		60	4625	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1393			Pro-rich.|Gly-rich.|Collagen-like 14.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4178G>C	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614069	0.66672	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	5.63	5.63	0.86233	.	0.000000	0.48767	D	0.000169	D	0.99701	0.9886	H	0.97852	4.09	0.80722	D	1	B;D	0.89917	0.297;1.0	B;D	0.91635	0.075;0.999	D	0.97470	1.0040	10	0.87932	D	0	.	19.0348	0.92972	0.0:1.0:0.0:0.0	.	1373;1393	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1393;1373;1086	ENSP00000303153:G1393A;ENSP00000387655:G1373A	ENSP00000303153:G1393A	G	-	2	0	COL22A1	139683547	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.349000	0.73013	2.802000	0.96397	0.563000	0.77884	GGA		PASS	0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		18	89	18	89	---	---	---	---
MAPK15	225689	broad.mit.edu	37	8	144803248	144803248	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:144803248G>A	ENST00000338033.4	+	10	1115	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	332					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)	p.V351V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCTCTCTGTGCCTGAGTACC	0.662																																						uc003yzj.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(994-996)GTG>GTA		mitogen-activated protein kinase 15							19.0	26.0	24.0					8																	144803248		2059	4198	6257	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803248G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.996G>A	8.37:g.144803248G>A							p.V332V	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		10	1037	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		332					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.996G>A	CCDS6409.2																																																																																				PASS	0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		6	16	6	16	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146157623	146157623	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:146157623C>T	ENST00000276816.4	-	4	736	c.550G>A	c.(550-552)Gac>Aac	p.D184N	ZNF16_ENST00000394909.2_Missense_Mutation_p.D184N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	184	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.D184N(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CCACCCATGTCATATGGATGT	0.493																																						uc003zet.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(550-552)GAC>AAC		zinc finger protein 16							140.0	133.0	135.0					8																	146157623		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157623C>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.550G>A	8.37:g.146157623C>T	ENSP00000276816:p.Asp184Asn					ZNF16_uc003zeu.2_Missense_Mutation_p.D184N	p.D184N	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	737	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	184					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.550G>A	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205162	0.22205	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351	T;T;T	0.28255	1.62;1.62;2.45	3.64	0.596	0.17496	.	.	.	.	.	T	0.11281	0.0275	N	0.10782	0.045	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.34800	-0.9814	9	0.02654	T	1	.	3.8709	0.09036	0.3311:0.4787:0.0:0.1901	.	184	P17020	ZNF16_HUMAN	N	184	ENSP00000276816:D184N;ENSP00000378369:D184N;ENSP00000434321:D184N	ENSP00000276816:D184N	D	-	1	0	ZNF16	146128427	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-2.127000	0.01315	-0.015000	0.14150	0.563000	0.77884	GAC		PASS	0.493	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		107	197	107	197	---	---	---	---
IFNA14	3448	broad.mit.edu	37	9	21239831	21239831	+	Missense_Mutation	SNP	C	C	T	rs149155133		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:21239831C>T	ENST00000380222.2	-	1	147	c.104G>A	c.(103-105)aGg>aAg	p.R35K		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	35					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)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.R35K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAAGTCCTCCTGTTATTCAG	0.493																																						uc010mis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)AGG>AAG		interferon, alpha 14 precursor							116.0	116.0	116.0					9																	21239831		2203	4300	6503	SO:0001583	missense	3448				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.chr9:21239831C>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.104G>A	9.37:g.21239831C>T	ENSP00000369571:p.Arg35Lys					IFNA14_uc003zoo.1_RNA	p.R35K	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	148	-			35					Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	c.104G>A	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	c	8.309	0.821728	0.16678	.	.	ENSG00000228083	ENST00000380222	T	0.03386	3.95	3.42	1.48	0.22813	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.347050	0.04472	N	0.376316	T	0.08044	0.0201	L	0.61036	1.89	0.09310	N	1	B	0.14012	0.009	B	0.37422	0.249	T	0.49466	-0.8937	10	0.30078	T	0.28	.	4.4381	0.11561	0.0:0.5785:0.0:0.4214	.	35	P01570	IFN14_HUMAN	K	35	ENSP00000369571:R35K	ENSP00000369571:R35K	R	-	2	0	IFNA14	21229831	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	-0.666000	0.05280	0.722000	0.32252	0.404000	0.27445	AGG		PASS	0.493	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		55	79	55	79	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:21971036C>A	ENST00000304494.5	-	2	592	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(322-324)GAT>TAT		cyclin-dependent kinase inhibitor 2A isoform 1							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971036C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>T	9.37:g.21971036C>A	ENSP00000307101:p.Asp108Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L	p.D108Y	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	534	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.322G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308521|4.308521	0.81247|0.81247	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.94232|0.79845	-3.38;-3.38|-1.31;-1.25	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84678|0.84678	0.5525|0.5525	L|L	0.29908|0.29908	0.895|0.895	0.47308|0.47308	D|D	0.999383|0.999383	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.67548	1.0|0.952	D|D	0.85416|0.85416	0.1140|0.1140	9|10	0.87932|0.62326	D|D	0|0.03	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	108|163;122	ENSP00000307101:D108Y;ENSP00000394932:D108Y|ENSP00000355153:R163L;ENSP00000432664:R122L	ENSP00000307101:D108Y|ENSP00000355153:R163L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		15	6	15	6	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609124	35609124	+	Silent	SNP	G	G	A	rs200271024		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:35609124G>A	ENST00000336395.5	+	10	1516	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	422					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P422P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACCACTCCGGAGACCCTGG	0.637																																						uc003zxa.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(1264-1266)CCG>CCA		testis-specific protein kinase 1		G		0,4406		0,0,2203	115.0	121.0	119.0		1266	-8.0	0.6	9		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TESK1	NM_006285.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		422/627	35609124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609124G>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1266G>A	9.37:g.35609124G>A						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.P262P	p.P422P	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1602	+			422					Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.1266G>A	CCDS6580.1																																																																																				PASS	0.637	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		4	152	4	152	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740469	37740469	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:37740469C>T	ENST00000539465.1	+	15	2537	c.1944C>T	c.(1942-1944)agC>agT	p.S648S	FRMPD1_ENST00000536622.1_Silent_p.S470S|FRMPD1_ENST00000541302.1_Silent_p.S517S|FRMPD1_ENST00000377765.3_Silent_p.S648S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	648						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S648S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGGAGAGAAGCGGGATTGAAA	0.572																																						uc004aag.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1942-1944)AGC>AGT		FERM and PDZ domain containing 1							35.0	34.0	35.0					9																	37740469		2203	4299	6502	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740469C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1944C>T	9.37:g.37740469C>T						FRMPD1_uc004aah.1_Silent_p.S648S|FRMPD1_uc011lqm.1_Silent_p.S470S|FRMPD1_uc011lqn.1_Silent_p.S517S	p.S648S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1988	+			648					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1944C>T	CCDS6612.1																																																																																				PASS	0.572	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		23	22	23	22	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95279975	95279975	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:95279975C>A	ENST00000344604.5	-	3	624	c.475G>T	c.(475-477)Gct>Tct	p.A159S	ECM2_ENST00000375540.1_Missense_Mutation_p.A159S|ECM2_ENST00000444490.2_Missense_Mutation_p.A159S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	159					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.A159S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTACCAGTAGCGGAGCAGACC	0.403																																						uc004ash.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(475-477)GCT>TCT		extracellular matrix protein 2 precursor							145.0	157.0	153.0					9																	95279975		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95279975C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.475G>T	9.37:g.95279975C>A	ENSP00000344758:p.Ala159Ser					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.A159S|ECM2_uc011lty.1_Missense_Mutation_p.A159S|ECM2_uc004asg.2_Missense_Mutation_p.A159S|ECM2_uc011ltz.1_Missense_Mutation_p.A159S|ECM2_uc004asi.2_Missense_Mutation_p.A159S	p.A159S	NM_001393	NP_001384	O94769	ECM2_HUMAN			3	540	-			159					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.475G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	5.481	0.273821	0.10403	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.63744	0.9;-0.06;2.2;1.78	5.34	2.37	0.29283	.	0.418328	0.27219	N	0.020361	T	0.36771	0.0979	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20261	0.01;0.014;0.014;0.043	B;B;B;B	0.20184	0.011;0.013;0.013;0.028	T	0.22661	-1.0210	10	0.51188	T	0.08	.	5.5801	0.17245	0.0:0.579:0.1334:0.2876	.	159;159;159;159	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	S	159	ENSP00000393971:A159S;ENSP00000344758:A159S;ENSP00000364690:A159S;ENSP00000378905:A159S	ENSP00000344758:A159S	A	-	1	0	ECM2	94319796	0.557000	0.26546	0.099000	0.21106	0.399000	0.30720	1.226000	0.32563	0.288000	0.22398	0.563000	0.77884	GCT		PASS	0.403	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		113	322	113	322	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105765446	105765446	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:105765446A>G	ENST00000374798.3	+	3	151	c.81A>G	c.(79-81)tcA>tcG	p.S27S	CYLC2_ENST00000487798.1_Silent_p.S27S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	27	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S27S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCAAAAAATCATGGAATCAGC	0.403																																						uc004bbs.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(79-81)TCA>TCG		cylicin 2							121.0	111.0	114.0					9																	105765446		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105765446A>G	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.81A>G	9.37:g.105765446A>G							p.S27S	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	151	+		all_hematologic(171;0.125)	27			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.81A>G	CCDS35085.1																																																																																				PASS	0.403	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		42	118	42	118	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652553	115652553	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:115652553A>G	ENST00000374228.4	-	1	640	c.409T>C	c.(409-411)Tac>Cac	p.Y137H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	137					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.Y137H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCCGCCCCGTACAGCACCTCC	0.687																																						uc004bgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(409-411)TAC>CAC		solute carrier family 46, member 2							27.0	32.0	30.0					9																	115652553		2195	4280	6475	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652553A>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.409T>C	9.37:g.115652553A>G	ENSP00000363345:p.Tyr137His						p.Y137H	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	641	-			137			Extracellular (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.409T>C	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922075	0.73213	.	.	ENSG00000119457	ENST00000374228	T	0.58210	0.35	5.45	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);	0.356915	0.33144	N	0.005233	T	0.50497	0.1619	L	0.56769	1.78	0.43632	D	0.996027	B	0.28208	0.203	B	0.32583	0.148	T	0.49735	-0.8908	10	0.54805	T	0.06	-11.7536	11.0698	0.47997	0.9261:0.0:0.0739:0.0	.	137	Q9BY10	TSCOT_HUMAN	H	137	ENSP00000363345:Y137H	ENSP00000363345:Y137H	Y	-	1	0	SLC46A2	114692374	1.000000	0.71417	0.818000	0.32626	0.833000	0.47200	6.188000	0.72045	0.909000	0.36697	0.454000	0.30748	TAC		PASS	0.687	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		7	31	7	31	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976961	119976961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:119976961G>A	ENST00000313400.4	-	3	791	c.691C>T	c.(691-693)Cga>Tga	p.R231*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.R231*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.R231*			O75129	ASTN2_HUMAN	astrotactin 2	231					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R231*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGCCAACGTCGCTGGGCGTAC	0.622																																						uc004bjs.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(691-693)CGA>TGA		astrotactin 2 isoform c							46.0	44.0	45.0					9																	119976961		2203	4300	6503	SO:0001587	stop_gained	23245					integral to membrane		g.chr9:119976961G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.691C>T	9.37:g.119976961G>A	ENSP00000314038:p.Arg231*					ASTN2_uc004bjr.1_Nonsense_Mutation_p.R231*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.R231*	p.R231*	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	792	-			231			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Nonsense_Mutation	SNP	ENST00000313400.4	37	c.691C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.822967	0.98510	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	.	.	.	5.51	1.35	0.21983	.	0.087475	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.4376	14.7179	0.69284	0.0:0.0:0.5014:0.4986	.	.	.	.	X	231	.	.	R	-	1	2	ASTN2	119016782	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	1.722000	0.38042	-0.018000	0.14079	0.655000	0.94253	CGA		PASS	0.622	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		21	50	21	50	---	---	---	---
MRRF	92399	broad.mit.edu	37	9	125047469	125047469	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:125047469T>C	ENST00000344641.3	+	4	673	c.362T>C	c.(361-363)gTg>gCg	p.V121A	MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000373730.3_Missense_Mutation_p.V121A|MRRF_ENST00000373729.1_Missense_Mutation_p.V77A|MRRF_ENST00000297908.3_Missense_Mutation_p.V69A|MRRF_ENST00000394315.3_Missense_Mutation_p.V121A|MRRF_ENST00000546115.1_Missense_Mutation_p.V121A|MRRF_ENST00000373723.5_Missense_Mutation_p.V121A	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	121					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.V121A(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AAGATTGCTGTGGTAACTGCT	0.418																																						uc004bmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(361-363)GTG>GCG		mitochondrial ribosome recycling factor isoform							75.0	77.0	76.0					9																	125047469		2203	4300	6503	SO:0001583	missense	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125047469T>C	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.362T>C	9.37:g.125047469T>C	ENSP00000343867:p.Val121Ala					MRRF_uc004bmc.2_Missense_Mutation_p.V121A|MRRF_uc011lyq.1_Missense_Mutation_p.V142A|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.V121A|MRRF_uc011lyr.1_Missense_Mutation_p.V69A|MRRF_uc004bmd.2_Missense_Mutation_p.V121A|MRRF_uc004bme.2_RNA	p.V121A	NM_138777	NP_620132	Q96E11	RRFM_HUMAN			4	477	+			121					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	c.362T>C	CCDS6840.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751390	0.89753	.	.	ENSG00000148187	ENST00000297908;ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.48	5.48	0.80851	Ribosome recycling factor domain (2);Arginine repressor, C-terminal (1);	0.110904	0.64402	D	0.000011	T	0.79805	0.4509	M	0.87269	2.87	0.80722	D	1	D;P;D;P	0.61697	0.966;0.925;0.99;0.947	P;B;P;P	0.61533	0.89;0.352;0.742;0.771	D	0.83437	0.0041	10	0.62326	D	0.03	-24.166	15.0539	0.71897	0.0:0.0:0.0:1.0	.	69;121;121;121	Q96E11-8;Q96E11-5;Q96E11-2;Q96E11	.;.;.;RRFM_HUMAN	A	69;121;121;121;121;121;77;121;121;77;121	ENSP00000297908:V69A;ENSP00000362828:V121A;ENSP00000362835:V121A;ENSP00000445588:V121A;ENSP00000343867:V121A;ENSP00000395072:V121A;ENSP00000362834:V77A;ENSP00000362832:V121A;ENSP00000362833:V121A;ENSP00000362829:V77A;ENSP00000377850:V121A	ENSP00000297908:V69A	V	+	2	0	MRRF	124087290	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.204000	0.70986	0.528000	0.53228	GTG		PASS	0.418	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		36	69	36	69	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136270036	136270036	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:136270036T>C	ENST00000371957.3	+	17	1963	c.1856T>C	c.(1855-1857)gTc>gCc	p.V619A	C9orf96_ENST00000371955.1_Missense_Mutation_p.V152A	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		619							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.V571A(1)|p.V619A(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGCTGCTGGTCCACCTGGCT	0.637																																						uc004cdk.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(1855-1857)GTC>GCC		hypothetical protein LOC169436							151.0	128.0	136.0					9																	136270036		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136270036T>C																												ENST00000371957.3:c.1856T>C	9.37:g.136270036T>C	ENSP00000361025:p.Val619Ala					C9orf96_uc004cdl.2_RNA	p.V619A	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	17	1917	+			619					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1856T>C	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	0.269	-0.994516	0.02145	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.45276	0.98;0.9	5.13	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.544435	0.17676	N	0.165786	T	0.10423	0.0255	N	0.00308	-1.67	0.19300	N	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.11182	T	0.66	-20.6031	6.2588	0.20889	0.2919:0.6141:0.0:0.0939	.	619	Q8NE28	SGK71_HUMAN	A	619;152	ENSP00000361025:V619A;ENSP00000361023:V152A	ENSP00000361023:V152A	V	+	2	0	C9orf96	135259857	0.351000	0.24887	0.926000	0.36857	0.073000	0.16967	0.111000	0.15458	1.115000	0.41800	-0.366000	0.07423	GTC		PASS	0.637	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			30	220	30	220	---	---	---	---
NSMF	26012	broad.mit.edu	37	9	140351966	140351966	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr9:140351966G>A	ENST00000371475.3	-	3	752	c.521C>T	c.(520-522)gCt>gTt	p.A174V	NSMF_ENST00000265663.7_Missense_Mutation_p.A174V|NSMF_ENST00000371473.3_Missense_Mutation_p.A174V|NSMF_ENST00000371474.3_Missense_Mutation_p.A174V|NSMF_ENST00000371472.2_Missense_Mutation_p.A174V|NSMF_ENST00000371482.1_5'Flank|PNPLA7_ENST00000492278.1_5'Flank|NSMF_ENST00000437259.1_Missense_Mutation_p.A174V|NSMF_ENST00000339554.3_5'UTR|NSMF_ENST00000541195.1_5'Flank|NSMF_ENST00000392812.4_Missense_Mutation_p.A174V	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	174	Necessary and sufficient to elicit dendritic processes and synaptic contacts. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)	p.A174V(1)									GGGGCCAGGAGCCAGCTGGGC	0.706																																						uc004cna.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GCT>GTT		nasal embryonic LHRH factor isoform a							18.0	14.0	15.0					9																	140351966		2181	4281	6462	SO:0001583	missense	26012					nucleus|plasma membrane		g.chr9:140351966G>A		CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.521C>T	9.37:g.140351966G>A	ENSP00000360530:p.Ala174Val					C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A174V|NELF_uc004cmz.2_Missense_Mutation_p.A174V|NELF_uc004cnc.2_Missense_Mutation_p.A174V|NELF_uc004cnb.2_Missense_Mutation_p.A174V	p.A174V	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)	3	753	-	all_cancers(76;0.0926)		174					Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	ENST00000371475.3	37	c.521C>T	CCDS48069.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351530	0.24512	.	.	ENSG00000165802	ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472	T;T;T;T;T;T;T	0.47528	0.87;0.86;0.84;0.84;0.84;0.87;0.86	4.41	3.5	0.40072	.	0.228688	0.30365	N	0.009798	T	0.25195	0.0612	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.10296	0.003;0.003;0.003;0.003;0.003	B;B;B;B;B	0.13407	0.009;0.009;0.009;0.007;0.007	T	0.05750	-1.0866	10	0.07990	T	0.79	-31.733	8.8889	0.35420	0.1077:0.0:0.8923:0.0	.	174;174;174;174;174	Q6X4W1-3;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;NELF_HUMAN;.	V	174	ENSP00000360530:A174V;ENSP00000265663:A174V;ENSP00000412007:A174V;ENSP00000376559:A174V;ENSP00000360529:A174V;ENSP00000360528:A174V;ENSP00000360527:A174V	ENSP00000265663:A174V	A	-	2	0	NELF	139471787	1.000000	0.71417	0.830000	0.32933	0.160000	0.22226	2.747000	0.47475	0.817000	0.34445	0.555000	0.69702	GCT		PASS	0.706	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015537		15	8	15	8	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15573047	15573047	+	Splice_Site	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:15573047A>T	ENST00000378076.3	-	28	3336		c.e28+1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.?(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAAGATACTCACTACTATGCT	0.348																																						uc001ioc.1																			1	Unknown(1)		lung(1)	ovary(3)|lung(3)	6						c.e28+1		integrin, alpha 8 precursor							79.0	81.0	80.0					10																	15573047		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573047A>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2982+1T>A	10.37:g.15573047A>T						ITGA8_uc010qcb.1_Splice_Site_p.V979_splice	p.A994_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN			28	2982	-								B0YJ31|Q5VX94	Splice_Site	SNP	ENST00000378076.3	37	c.2982_splice	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217173	0.79352	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5119	0.75789	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15613053	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	5.716000	0.68437	2.142000	0.66516	0.523000	0.50628	.		PASS	0.348	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Intron	50	79	50	79	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15702878	15702878	+	Splice_Site	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:15702878A>G	ENST00000378076.3	-	9	1244	c.891T>C	c.(889-891)taT>taC	p.Y297Y		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	297					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.Y297Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAGTACTCACATATCCAAAAT	0.373																																						uc001ioc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(889-891)TAT>TAC		integrin, alpha 8 precursor							155.0	146.0	149.0					10																	15702878		2203	4300	6503	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15702878A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.891+1T>C	10.37:g.15702878A>G						ITGA8_uc010qcb.1_Silent_p.Y282Y	p.Y297Y	NM_003638	NP_003629	P53708	ITA8_HUMAN			9	891	-			297			Extracellular (Potential).|FG-GAP 4.		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.891T>C	CCDS31155.1																																																																																				PASS	0.373	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Silent	33	59	33	59	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17636217	17636217	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:17636217T>C	ENST00000361271.3	-	6	808	c.771A>G	c.(769-771)gcA>gcG	p.A257A		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	257					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.A257A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTATATATGATGCCATGGTTA	0.289																																						uc001ipg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(769-771)GCA>GCG		protein tyrosine phosphatase-like, member A							50.0	53.0	52.0					10																	17636217		2200	4295	6495	SO:0001819	synonymous_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636217T>C	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.771A>G	10.37:g.17636217T>C							p.A257A	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			6	806	-			257			Helical; (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Silent	SNP	ENST00000361271.3	37	c.771A>G	CCDS7121.1																																																																																				PASS	0.289	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		26	115	26	115	---	---	---	---
ZFAND4	93550	broad.mit.edu	37	10	46147483	46147483	+	Splice_Site	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:46147483T>C	ENST00000344646.5	-	4	476		c.e4-2		ZFAND4_ENST00000374366.3_Splice_Site|ZFAND4_ENST00000335258.7_Splice_Site|ZFAND4_ENST00000374370.1_5'Flank|ZFAND4_ENST00000374371.2_Splice_Site	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding (GO:0008270)	p.?(1)									TCTGAAATGCTGTGGATAGTT	0.363																																						uc001jcp.3																			1	Unknown(1)		lung(1)		0						c.e4-1		AN1, ubiquitin-like, homolog							69.0	65.0	66.0					10																	46147483		2203	4299	6502	SO:0001630	splice_region_variant	93550						zinc ion binding	g.chr10:46147483T>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.261-2A>G	10.37:g.46147483T>C						ANUBL1_uc001jcm.3_Splice_Site_p.N87_splice|ANUBL1_uc009xmu.2_Splice_Site_p.N13_splice|ANUBL1_uc001jcn.3_Splice_Site_p.N13_splice|ANUBL1_uc001jco.3_Splice_Site_p.N87_splice|ANUBL1_uc001jcq.2_Splice_Site|ANUBL1_uc001jcr.2_Splice_Site_p.N87_splice	p.N87_splice	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			4	503	-								A8K8V4|B2RAX2|Q5VVY5	Splice_Site	SNP	ENST00000344646.5	37	c.261_splice	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486972	0.84854	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000335258	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANUBL1	45467489	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.140000	0.77322	2.317000	0.78254	0.460000	0.39030	.		PASS	0.363	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	Intron	42	28	42	28	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48388747	48388747	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:48388747C>T	ENST00000224600.4	-	1	2244	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	711	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E711K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGCTTCCTCTACCACCAGC	0.632																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2131-2133)GAG>AAG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						34.0	38.0	37.0					10																	48388747		2201	4297	6498	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388747C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2131G>A	10.37:g.48388747C>T	ENSP00000224600:p.Glu711Lys						p.E711K	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2245	-			711			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2131G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511495	0.27036	.	.	ENSG00000107618	ENST00000224600	T	0.62788	-0.0	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.75961	0.3921	L	0.61218	1.895	0.46521	D	0.999081	D	0.76494	0.999	D	0.63283	0.913	T	0.74970	-0.3482	10	0.46703	T	0.11	-30.7947	18.7588	0.91842	0.0:1.0:0.0:0.0	.	711	P10745	RET3_HUMAN	K	711	ENSP00000224600:E711K	ENSP00000224600:E711K	E	-	1	0	RBP3	48008753	0.998000	0.40836	0.664000	0.29753	0.013000	0.08279	4.117000	0.57877	2.697000	0.92050	0.655000	0.94253	GAG		PASS	0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		27	29	27	29	---	---	---	---
VSTM4	196740	broad.mit.edu	37	10	50227712	50227712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:50227712C>A	ENST00000332853.4	-	8	969	c.946G>T	c.(946-948)Gag>Tag	p.E316*	RP11-523O18.1_ENST00000422966.1_RNA	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E316*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTGTTCTCCTCGAAGAGGATC	0.522																																						uc001jhf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(946-948)GAG>TAG		hypothetical protein LOC196740 isoform 1							72.0	72.0	72.0					10																	50227712		2203	4300	6503	SO:0001587	stop_gained	196740					integral to membrane|plasma membrane		g.chr10:50227712C>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.946G>T	10.37:g.50227712C>A	ENSP00000331062:p.Glu316*						p.E316*	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			8	975	-			316			Cytoplasmic (Potential).		B4DNI6|Q96MX7	Nonsense_Mutation	SNP	ENST00000332853.4	37	c.946G>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236517	0.95240	.	.	ENSG00000165633	ENST00000332853	.	.	.	5.78	3.87	0.44632	.	0.412681	0.25654	N	0.029185	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-27.5707	15.1327	0.72536	0.0:0.7325:0.2675:0.0	.	.	.	.	X	316	.	ENSP00000331062:E316X	E	-	1	0	VSTM4	49897718	0.993000	0.37304	0.827000	0.32855	0.988000	0.76386	2.371000	0.44248	0.844000	0.35094	0.591000	0.81541	GAG		PASS	0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		39	52	39	52	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	52751280	52751280	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:52751280C>G	ENST00000401604.2	+	1	336	c.142C>G	c.(142-144)Cca>Gca	p.P48A	PRKG1_ENST00000373985.1_Missense_Mutation_p.P36A			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	48	Required for dimerization.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.P48A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTCGGTGCTCCCAGTGCCCTC	0.612																																						uc001jjm.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(142-144)CCA>GCA		protein kinase, cGMP-dependent, type I isoform							28.0	37.0	34.0					10																	52751280		1914	4130	6044	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52751280C>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.142C>G	10.37:g.52751280C>G	ENSP00000384200:p.Pro48Ala					PRKG1_uc010qhp.1_Missense_Mutation_p.P48A	p.P48A	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	1	336	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	48			Dimerization.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.142C>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348058	0.24426	.	.	ENSG00000185532	ENST00000401604;ENST00000373985	T;T	0.68331	-0.3;-0.32	4.93	4.01	0.46588	Cyclic nucleotide-binding-like (1);	.	.	.	.	T	0.60090	0.2242	L	0.61218	1.895	0.38689	D	0.952726	B;B	0.26975	0.165;0.001	B;B	0.25405	0.06;0.001	T	0.59134	-0.7511	9	0.38643	T	0.18	.	8.248	0.31700	0.1785:0.6488:0.1727:0.0	.	48;48	B4DT93;Q13976	.;KGP1_HUMAN	A	48;36	ENSP00000384200:P48A;ENSP00000363097:P36A	ENSP00000363097:P36A	P	+	1	0	PRKG1	52421286	1.000000	0.71417	0.987000	0.45799	0.669000	0.39330	5.294000	0.65687	1.034000	0.39945	0.313000	0.20887	CCA		PASS	0.612	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	5	6	5	---	---	---	---
DUPD1	338599	broad.mit.edu	37	10	76818229	76818229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:76818229G>T	ENST00000338487.5	-	1	43	c.44C>A	c.(43-45)tCa>tAa	p.S15*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	15					protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S15*(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTGGCAGATGAGTAGGCATT	0.537																																						uc001jwq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(43-45)TCA>TAA		dual specificity phosphatase and pro isomerase							81.0	76.0	78.0					10																	76818229		2203	4300	6503	SO:0001587	stop_gained	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76818229G>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.44C>A	10.37:g.76818229G>T	ENSP00000340609:p.Ser15*						p.S15*	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			1	44	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		15					B2RP93	Nonsense_Mutation	SNP	ENST00000338487.5	37	c.44C>A	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908922	0.72868	.	.	ENSG00000188716	ENST00000338487	.	.	.	4.6	1.48	0.22813	.	28.896400	0.00589	N	0.000346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8577	6.7635	0.23554	0.1877:0.159:0.6532:0.0	.	.	.	.	X	15	.	ENSP00000340609:S15X	S	-	2	0	DUPD1	76488235	0.008000	0.16893	0.015000	0.15790	0.730000	0.41778	0.577000	0.23758	0.542000	0.28846	0.563000	0.77884	TCA		PASS	0.537	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		32	33	32	33	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87484343	87484343	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:87484343C>T	ENST00000327946.7	-	11	1709	c.1624G>A	c.(1624-1626)Ggg>Agg	p.G542R	GRID1_ENST00000536331.1_Missense_Mutation_p.G113R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	542					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.G542R(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						ATTAGAATCCCCACTGAATAG	0.517										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.(1624-1626)GGG>AGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						74.0	72.0	72.0					10																	87484343		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.chr10:87484343C>T	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.1624G>A	10.37:g.87484343C>T	ENSP00000330148:p.Gly542Arg	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G113R	p.G542R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			11	1725	-			542			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1624G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991307	0.74703	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38564	-0.9655	10	0.72032	D	0.01	.	19.0851	0.93200	0.0:1.0:0.0:0.0	.	542	Q9ULK0	GRID1_HUMAN	R	542;113	ENSP00000330148:G542R;ENSP00000444455:G113R	ENSP00000330148:G542R	G	-	1	0	GRID1	87474323	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	7.747000	0.85070	2.741000	0.93983	0.650000	0.86243	GGG		PASS	0.517	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		46	61	46	61	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88197313	88197313	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:88197313A>C	ENST00000298767.5	-	19	4032	c.3560T>G	c.(3559-3561)tTg>tGg	p.L1187W	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Missense_Mutation_p.L399W|WAPAL_ENST00000263070.7_Missense_Mutation_p.L399W	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1187					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.L1187W(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GCAATGTTCCAAATATTCAAT	0.408																																						uc001kdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3559-3561)TTG>TGG		wings apart-like homolog							83.0	73.0	77.0					10																	88197313		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88197313A>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3560T>G	10.37:g.88197313A>C	ENSP00000298767:p.Leu1187Trp					WAPAL_uc009xsv.2_Missense_Mutation_p.L446W|WAPAL_uc001kdn.2_Missense_Mutation_p.L1224W|WAPAL_uc009xsw.2_Missense_Mutation_p.L1181W	p.L1187W	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			19	4002	-			1187					A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.3560T>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661029	0.88154	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.40476	1.03;1.03;1.03	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	T	0.68372	-0.5426	10	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	1181;1225;1187;1224	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	W	1272;1187;1272;399;399	ENSP00000298767:L1187W;ENSP00000361145:L399W;ENSP00000263070:L399W	ENSP00000263070:L399W	L	-	2	0	WAPAL	88187293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.659000	0.91116	2.265000	0.75225	0.533000	0.62120	TTG		PASS	0.408	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		33	45	33	45	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102052796	102052796	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:102052796G>T	ENST00000318222.3	-	11	2171	c.1789C>A	c.(1789-1791)Ctg>Atg	p.L597M	PKD2L1_ENST00000338519.3_Missense_Mutation_p.L522M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.L597M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	597					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.L597M(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTTCCTCAGACGCAGTCTT	0.552																																						uc001kqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1789-1791)CTG>ATG		polycystic kidney disease 2-like 1							128.0	106.0	114.0					10																	102052796		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102052796G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1789C>A	10.37:g.102052796G>T	ENSP00000325296:p.Leu597Met					PKD2L1_uc009xwm.1_Missense_Mutation_p.L550M	p.L597M	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	11	2172	-		Colorectal(252;0.117)	597			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1789C>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509853	0.44660	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.64991	0.09;-0.13;-0.08	6.07	3.19	0.36642	.	0.071076	0.64402	D	0.000016	T	0.75917	0.3915	M	0.77313	2.365	0.35817	D	0.824324	D;D	0.89917	0.999;1.0	D;D	0.72075	0.962;0.976	T	0.79843	-0.1632	10	0.52906	T	0.07	-14.901	10.1416	0.42738	0.2195:0.0:0.7805:0.0	.	550;597	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	M	522;597;597;595	ENSP00000345068:L522M;ENSP00000266049:L597M;ENSP00000325296:L597M	ENSP00000325296:L597M	L	-	1	2	PKD2L1	102042786	0.996000	0.38824	0.803000	0.32268	0.208000	0.24298	2.259000	0.43259	0.424000	0.26061	0.655000	0.94253	CTG		PASS	0.552	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		54	56	54	56	---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104678750	104678750	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:104678750C>T	ENST00000369878.4	+	1	701	c.513C>T	c.(511-513)ggC>ggT	p.G171G	CNNM2_ENST00000369875.3_Silent_p.G171G|CNNM2_ENST00000433628.2_Silent_p.G171G	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	171					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.G171G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCACCTCGGGCATCATCGAGA	0.642																																						uc001kwm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(511-513)GGC>GGT		cyclin M2 isoform 1							132.0	144.0	140.0					10																	104678750		2202	4300	6502	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678750C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.513C>T	10.37:g.104678750C>T						CNNM2_uc001kwn.2_Silent_p.G171G|CNNM2_uc001kwl.2_Silent_p.G171G	p.G171G	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	637	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	171					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.513C>T	CCDS44474.1																																																																																				PASS	0.642	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		81	118	81	118	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134886386	134886386	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:134886386A>G	ENST00000607359.1	+	3	420	c.420A>G	c.(418-420)gcA>gcG	p.A140A				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A140A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCGGCCGTGCAGATGGGAAGG	0.592																																						uc001llw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)GCA>GCG		RecName: Full=Probable G-protein coupled receptor 123;							41.0	44.0	43.0					10																	134886386		1565	3579	5144	SO:0001819	synonymous_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134886386A>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.420A>G	10.37:g.134886386A>G							p.A140A			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	3	420	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	Error:Variant_position_missing_in_Q86SQ6_after_alignment					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000607359.1	37	c.420A>G																																																																																					PASS	0.592	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			7	8	7	8	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1024909	1024909	+	Missense_Mutation	SNP	G	G	A	rs200255910	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:1024909G>A	ENST00000421673.2	-	24	3210	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1054	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.R1054C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCAGGAGCGCCGGAAGGCA	0.662													t|||	2	0.000399361	0.0	0.0	5008	,	,		15223	0.0		0.002	False		,,,				2504	0.0					uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3160-3162)CGC>TGC		mucin 6, gastric		G	CYS/ARG	1,4195		0,1,2097	38.0	44.0	42.0		3160	2.0	0.8	11		42	5,8449		0,5,4222	yes	missense	MUC6	NM_005961.2	180	0,6,6319	AA,AG,GG		0.0591,0.0238,0.0474	probably-damaging	1054/2440	1024909	6,12644	2098	4227	6325	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1024909G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3160C>T	11.37:g.1024909G>A	ENSP00000406861:p.Arg1054Cys						p.R1054C	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3211	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1054			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3160C>T	CCDS44513.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.73	2.324425	0.41197	2.38E-4	5.91E-4	ENSG00000184956	ENST00000421673	T	0.20069	2.1	4.03	2.0	0.26442	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	1.138510	0.07075	U	0.836042	T	0.47600	0.1454	M	0.88377	2.95	0.09310	N	0.999999	D	0.76494	0.999	P	0.57679	0.825	T	0.31833	-0.9929	10	0.87932	D	0	.	10.7243	0.46059	0.0:0.0:0.4082:0.5918	.	1054	Q6W4X9	MUC6_HUMAN	C	1054	ENSP00000406861:R1054C	ENSP00000406861:R1054C	R	-	1	0	MUC6	1014909	0.075000	0.21258	0.838000	0.33150	0.783000	0.44284	1.837000	0.39201	1.067000	0.40740	-0.218000	0.12543	CGC		PASS	0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		13	43	13	43	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4091374	4091374	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:4091374G>T	ENST00000300737.4	+	6	1301	c.732G>T	c.(730-732)atG>atT	p.M244I	STIM1_ENST00000527651.1_Missense_Mutation_p.M244I|STIM1_ENST00000533977.1_Missense_Mutation_p.M71I	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	244					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.M244I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGAAGAAGATGATGAAGGACT	0.527																																						uc001lyv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(730-732)ATG>ATT		stromal interaction molecule 1 precursor							186.0	163.0	171.0					11																	4091374		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4091374G>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.732G>T	11.37:g.4091374G>T	ENSP00000300737:p.Met244Ile					STIM1_uc009yef.2_Missense_Mutation_p.M244I|STIM1_uc009yeg.2_Missense_Mutation_p.M71I	p.M244I	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	6	1300	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	244			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.732G>T	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497152	0.85069	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.81579	-0.54;-1.51;-0.53	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82513	0.5053	M	0.81341	2.54	0.80722	D	1	P;P	0.39831	0.69;0.69	B;B	0.36666	0.164;0.23	D	0.85048	0.0927	10	0.72032	D	0.01	-23.3071	18.6633	0.91479	0.0:0.0:1.0:0.0	.	244;244	E9PQJ4;Q13586	.;STIM1_HUMAN	I	244;244;71	ENSP00000300737:M244I;ENSP00000436208:M244I;ENSP00000434767:M71I	ENSP00000300737:M244I	M	+	3	0	STIM1	4047950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.431000	0.97494	2.756000	0.94617	0.561000	0.74099	ATG		PASS	0.527	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		4	127	4	127	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903906	4903906	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:4903906C>T	ENST00000322049.1	+	1	777	c.777C>T	c.(775-777)agC>agT	p.S259S	OR51T1_ENST00000380378.1_Silent_p.S286S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S286S(1)|p.S259S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTGATCAGCCTCTCTTTGG	0.498																																						uc010qyp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(856-858)AGC>AGT		olfactory receptor, family 51, subfamily T,							113.0	94.0	101.0					11																	4903906		2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903906C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.777C>T	11.37:g.4903906C>T							p.S286S	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	858	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	259			Helical; Name=6; (Potential).		Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.858C>T																																																																																					PASS	0.498	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		24	88	24	88	---	---	---	---
OR51G1	79324	broad.mit.edu	37	11	4945280	4945281	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:4945280_4945281GG>TT	ENST00000321961.2	-	1	356_357	c.289_290CC>AA	c.(289-291)CCt>AAt	p.P97N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P97H(1)|p.P97T(1)|p.P97N(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAACAGGCAGGGATGCCAATC	0.5																																						uc010qyr.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(289-291)CCT>CAT|c.(289-291)CCT>ACT		olfactory receptor, family 51, subfamily G,																																				SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945280G>T|g.chr11:4945281G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.289_290delinsTT	11.37:g.4945280_4945281delinsTT	ENSP00000322546:p.Pro97Asn						p.P97H|p.P97T	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	290|289	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	97			Extracellular (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.290C>A|c.289C>A	CCDS31366.1																																																																																				PASS	0.500	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		28	61	28	61	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5012677	5012677	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:5012677T>A	ENST00000380390.1	+	5	762	c.546T>A	c.(544-546)ccT>ccA	p.P182P	MMP26_ENST00000300762.1_Silent_p.P182P			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	182					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P182P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTGGAAATCCTGGAGTTGTCC	0.483																																						uc001lzv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CCT>CCA		matrix metalloproteinase 26 preproprotein							166.0	162.0	163.0					11																	5012677		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012677T>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.546T>A	11.37:g.5012677T>A							p.P182P	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	564	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	182					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.546T>A	CCDS7752.1																																																																																				PASS	0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		109	158	109	158	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023408	6023408	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:6023408G>C	ENST00000330728.4	-	1	1016	c.971C>G	c.(970-972)cCt>cGt	p.P324R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P324R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		GACATCTGGAGGAATTCTCTT	0.527																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(970-972)CCT>CGT		olfactory receptor, family 56, subfamily A,							93.0	88.0	90.0					11																	6023408		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023408G>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.971C>G	11.37:g.6023408G>C	ENSP00000328215:p.Pro324Arg						p.P324R	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	971	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	272			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.971C>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172515	0.21704	.	.	ENSG00000183389	ENST00000330728	T	0.00107	8.72	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.224658	0.22429	U	0.060176	T	0.00552	0.0018	M	0.93420	3.415	0.09310	N	0.999999	B	0.32302	0.363	P	0.48524	0.58	T	0.00783	-1.1568	10	0.87932	D	0	.	14.8981	0.70659	0.0:0.0:1.0:0.0	.	272	Q8NGH8	O56A4_HUMAN	R	324	ENSP00000328215:P324R	ENSP00000328215:P324R	P	-	2	0	OR56A4	5979984	0.141000	0.22595	0.077000	0.20336	0.052000	0.14988	2.730000	0.47335	2.142000	0.66516	0.655000	0.94253	CCT		PASS	0.527	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		12	50	12	50	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8494723	8494723	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:8494723C>A	ENST00000447869.1	-	2	1244	c.326G>T	c.(325-327)gGa>gTa	p.G109V	STK33_ENST00000396673.1_Missense_Mutation_p.G109V|STK33_ENST00000315204.1_Missense_Mutation_p.G109V|STK33_ENST00000396672.1_Missense_Mutation_p.G109V|STK33_ENST00000534493.1_Missense_Mutation_p.G68V|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	109					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G109V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AATAGCAGCTCCATTCTCAAT	0.378																																						uc001mgi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(325-327)GGA>GTA		serine/threonine kinase 33							179.0	172.0	174.0					11																	8494723		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8494723C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.326G>T	11.37:g.8494723C>A	ENSP00000416750:p.Gly109Val					STK33_uc001mgj.1_Missense_Mutation_p.G109V|STK33_uc001mgk.1_Missense_Mutation_p.G109V|STK33_uc010rbn.1_Missense_Mutation_p.G68V|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	p.G109V	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	2	1245	-			109					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.326G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252796	0.39797	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;D;D;D	0.82711	2.01;2.01;2.01;2.01;2.01;-0.51;-1.64;-1.64;-1.64	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.307291	0.35013	N	0.003512	T	0.77765	0.4179	L	0.59436	1.845	0.44432	D	0.997358	P	0.35656	0.514	B	0.32090	0.14	T	0.77493	-0.2567	10	0.45353	T	0.12	.	10.1922	0.43032	0.0:0.9102:0.0:0.0898	.	109	Q9BYT3	STK33_HUMAN	V	109;109;109;109;68;59;68;68;109	ENSP00000416750:G109V;ENSP00000320754:G109V;ENSP00000379905:G109V;ENSP00000379906:G109V;ENSP00000436418:G68V;ENSP00000436905:G59V;ENSP00000391362:G68V;ENSP00000411510:G68V;ENSP00000403599:G109V	ENSP00000320754:G109V	G	-	2	0	STK33	8451299	0.736000	0.28164	0.972000	0.41901	0.898000	0.52572	0.980000	0.29513	2.541000	0.85698	0.585000	0.79938	GGA		PASS	0.378	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		92	175	92	175	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12315632	12315632	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:12315632T>A	ENST00000256186.2	+	3	945	c.654T>A	c.(652-654)ggT>ggA	p.G218G		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	218					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.G218G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGAGAATGGTAGAGGAGGCC	0.577																																						uc001mkg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(652-654)GGT>GGA		MICAL C-terminal like							62.0	66.0	65.0					11																	12315632		1954	4131	6085	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315632T>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.654T>A	11.37:g.12315632T>A							p.G218G	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	945	+			218					Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.654T>A	CCDS41620.1																																																																																				PASS	0.577	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		37	82	37	82	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16010543	16010543	+	Splice_Site	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:16010543C>A	ENST00000352083.6	-	14	2043	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	SOX6_ENST00000316399.6_Splice_Site_p.G636*|SOX6_ENST00000528429.1_Splice_Site_p.G656*|SOX6_ENST00000527619.1_Splice_Site_p.G632*|SOX6_ENST00000528252.1_Splice_Site_p.G629*|SOX6_ENST00000396356.3_Splice_Site_p.G636*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	656					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)	p.G632*(1)|p.G636*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCACTCACCTAAGATTTTG	0.493											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mme.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(2005-2007)GGA>TGA		SRY (sex determining region Y)-box 6 isoform 4							146.0	136.0	139.0					11																	16010543		2200	4294	6494	SO:0001630	splice_region_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16010543C>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1966+1G>T	11.37:g.16010543C>A			OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	707	SOX6_uc001mmd.2_Nonsense_Mutation_p.G632*|SOX6_uc001mmf.2_Nonsense_Mutation_p.G629*|SOX6_uc001mmg.2_Nonsense_Mutation_p.G636*	p.G669*	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			14	2038	-			656			HMG box.		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Nonsense_Mutation	SNP	ENST00000352083.6	37	c.2005G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.217973	0.98712	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	.	.	.	X	636;656;636;629;632;656	.	.	G	-	1	0	SOX6	15967119	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.695000	0.91970	0.655000	0.94253	GGA		PASS	0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	Nonsense_Mutation	42	141	42	141	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17331130	17331130	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:17331130G>A	ENST00000529010.1	+	6	610	c.391G>A	c.(391-393)Gac>Aac	p.D131N	NUCB2_ENST00000458064.2_Missense_Mutation_p.D131N|NUCB2_ENST00000323688.6_Missense_Mutation_p.D131N	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	131						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.D131N(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TATAGGCATGGACCACCAAGC	0.308																																						uc001mmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GAC>AAC		nucleobindin 2 precursor							148.0	139.0	142.0					11																	17331130		1799	4067	5866	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17331130G>A	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.391G>A	11.37:g.17331130G>A	ENSP00000436455:p.Asp131Asn					NUCB2_uc001mms.1_Missense_Mutation_p.D132N|NUCB2_uc001mmt.1_Missense_Mutation_p.D131N|NUCB2_uc001mmv.1_Missense_Mutation_p.D131N|NUCB2_uc009ygz.2_Missense_Mutation_p.D131N	p.D131N	NM_005013	NP_005004	P80303	NUCB2_HUMAN			6	636	+			131					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.391G>A	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379895	0.61845	.	.	ENSG00000070081	ENST00000530527;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000458064	T;T;T	0.18960	2.18;2.18;2.18	5.81	4.89	0.63831	.	0.084546	0.85682	N	0.000000	T	0.17323	0.0416	L	0.38692	1.165	0.46586	D	0.99911	B;B;B	0.16603	0.018;0.004;0.004	B;B;B	0.15870	0.014;0.006;0.006	T	0.03945	-1.0990	10	0.27785	T	0.31	-12.8558	12.3288	0.55026	0.0791:0.0:0.9209:0.0	.	131;131;131	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	N	131	ENSP00000320168:D131N;ENSP00000436455:D131N;ENSP00000408702:D131N	ENSP00000320168:D131N	D	+	1	0	NUCB2	17287706	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.833000	0.69349	1.416000	0.47057	0.650000	0.86243	GAC		PASS	0.308	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		55	237	55	237	---	---	---	---
FANCF	2188	broad.mit.edu	37	11	22646492	22646492	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:22646492G>T	ENST00000327470.3	-	1	895	c.865C>A	c.(865-867)Ctt>Att	p.L289I	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	289					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L289I(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CCTTTCTGAAGGTCATAGTGC	0.542			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mql.1			yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(865-867)CTT>ATT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F																																				SO:0001583	missense	2188	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646492G>T		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.865C>A	11.37:g.22646492G>T	ENSP00000330875:p.Leu289Ile		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.L289I	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	896	-			289	L->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A- 339; A-341 and A-344.				Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.865C>A	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131699	0.77662	.	.	ENSG00000183161	ENST00000327470	T	0.36699	1.24	5.41	5.41	0.78517	.	0.514292	0.18003	U	0.154841	T	0.51941	0.1704	L	0.42245	1.32	0.37918	D	0.931598	D	0.89917	1.0	D	0.77004	0.989	T	0.37150	-0.9718	10	0.21014	T	0.42	-9.9635	17.5475	0.87866	0.0:0.0:1.0:0.0	.	289	Q9NPI8	FANCF_HUMAN	I	289	ENSP00000330875:L289I	ENSP00000330875:L289I	L	-	1	0	FANCF	22603068	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	4.101000	0.57769	2.815000	0.96918	0.561000	0.74099	CTT		PASS	0.542	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		18	122	18	122	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033959	30033959	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:30033959C>A	ENST00000328224.6	-	2	1500	c.267G>T	c.(265-267)cgG>cgT	p.R89R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	89					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R89R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCTTCTCAGACCGCTGTCGCC	0.627																																						uc001msk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(265-267)CGG>CGT		potassium voltage-gated channel, shaker-related							43.0	45.0	44.0					11																	30033959		2075	4215	6290	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033959C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.267G>T	11.37:g.30033959C>A							p.R89R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1419	-			89						Silent	SNP	ENST00000328224.6	37	c.267G>T	CCDS41629.1																																																																																				PASS	0.627	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		30	54	30	54	---	---	---	---
RAG2	5897	broad.mit.edu	37	11	36614556	36614556	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:36614556G>C	ENST00000311485.3	-	2	1324	c.1163C>G	c.(1162-1164)gCa>gGa	p.A388G	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	388					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.A388E(1)|p.A388G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATTTGCTTCTGCACTGAAACA	0.398									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(1162-1164)GCA>GGA		recombination activating gene 2							141.0	136.0	138.0					11																	36614556		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614556G>C	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1163C>G	11.37:g.36614556G>C	ENSP00000308620:p.Ala388Gly					RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.A388G	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1351	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	388					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1163C>G	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804527	0.50315	.	.	ENSG00000175097	ENST00000311485	D	0.90504	-2.68	5.45	4.53	0.55603	.	0.209202	0.41605	D	0.000851	D	0.90590	0.7050	L	0.59436	1.845	0.35232	D	0.777059	B	0.33103	0.397	B	0.41440	0.357	D	0.93444	0.6796	10	0.62326	D	0.03	-12.9779	14.1339	0.65273	0.0:0.2863:0.7137:0.0	.	388	P55895	RAG2_HUMAN	G	388	ENSP00000308620:A388G	ENSP00000308620:A388G	A	-	2	0	RAG2	36571132	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	4.527000	0.60573	1.415000	0.47037	-0.181000	0.13052	GCA		PASS	0.398	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		65	109	65	109	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44069984	44069984	+	Missense_Mutation	SNP	G	G	C	rs190169018	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:44069984G>C	ENST00000378832.1	+	1	454	c.398G>C	c.(397-399)cGc>cCc	p.R133P		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	133					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.R133P(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTTGTCAACCGCGACCTATCC	0.488																																						uc001mxw.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(397-399)CGC>CCC		1-aminocyclopropane-1-carboxylate synthase							71.0	71.0	71.0					11																	44069984		1929	4140	6069	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44069984G>C		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.398G>C	11.37:g.44069984G>C	ENSP00000368109:p.Arg133Pro					ACCSL_uc009ykr.2_5'UTR	p.R133P	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			1	454	+			133						Missense_Mutation	SNP	ENST00000378832.1	37	c.398G>C	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	g	8.281	0.815473	0.16607	.	.	ENSG00000205126	ENST00000378832	T	0.67698	-0.28	4.79	-3.44	0.04796	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);	1.383040	0.04278	N	0.343354	T	0.49150	0.1540	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21075	-1.0256	10	0.21014	T	0.42	1.758	5.9772	0.19387	0.4311:0.2237:0.3453:0.0	.	133	Q4AC99	1A1L2_HUMAN	P	133	ENSP00000368109:R133P	ENSP00000368109:R133P	R	+	2	0	ACCSL	44026560	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.292000	0.08332	-0.281000	0.09141	-1.073000	0.02249	CGC		PASS	0.488	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		20	123	20	123	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296439	47296439	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:47296439G>T	ENST00000311027.5	+	3	553	c.388G>T	c.(388-390)Gag>Tag	p.E130*	MADD_ENST00000349238.3_Nonsense_Mutation_p.E130*|RP11-17G12.3_ENST00000545474.1_RNA|RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000402192.2_Nonsense_Mutation_p.E130*|MADD_ENST00000407859.3_Nonsense_Mutation_p.E130*|MADD_ENST00000395336.3_Nonsense_Mutation_p.E130*|MADD_ENST00000395344.3_Nonsense_Mutation_p.E130*|MADD_ENST00000402799.1_Nonsense_Mutation_p.E130*|MADD_ENST00000406482.1_Nonsense_Mutation_p.E130*|MADD_ENST00000342922.4_Nonsense_Mutation_p.E130*	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.E130*(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGCCTCAGAAGAGGGTGGCAC	0.602																																						uc001ner.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(388-390)GAG>TAG		MAP-kinase activating death domain-containing							55.0	53.0	54.0					11																	47296439		2201	4298	6499	SO:0001587	stop_gained	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296439G>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.388G>T	11.37:g.47296439G>T	ENSP00000310933:p.Glu130*					MADD_uc001neq.2_Nonsense_Mutation_p.E130*|MADD_uc001nev.1_Nonsense_Mutation_p.E130*|MADD_uc001nes.1_Nonsense_Mutation_p.E130*|MADD_uc001net.1_Nonsense_Mutation_p.E130*|MADD_uc009yln.1_Nonsense_Mutation_p.E130*|MADD_uc001neu.1_Nonsense_Mutation_p.E130*|MADD_uc001nex.2_Nonsense_Mutation_p.E130*|MADD_uc001nez.2_Nonsense_Mutation_p.E130*|MADD_uc001new.2_Nonsense_Mutation_p.E130*	p.E130*	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	579	+			130						Nonsense_Mutation	SNP	ENST00000311027.5	37	c.388G>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783554	0.90282	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	.	.	.	6.07	6.07	0.98685	.	0.309061	0.36167	N	0.002741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.8939	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	.	.	.	X	130	.	.	E	+	1	0	MADD	47253015	1.000000	0.71417	0.975000	0.42487	0.958000	0.62258	6.752000	0.74898	2.885000	0.99019	0.655000	0.94253	GAG		PASS	0.602	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			4	84	4	84	---	---	---	---
OR4B1	119765	broad.mit.edu	37	11	48239284	48239284	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:48239284G>A	ENST00000309562.2	+	1	941	c.923G>A	c.(922-924)aGg>aAg	p.R308K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AATCCAGGGAGGGAGTGAAAA	0.403																																						uc010rhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(922-924)AGG>AAG		olfactory receptor, family 4, subfamily B,							44.0	45.0	45.0					11																	48239284		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48239284G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.923G>A	11.37:g.48239284G>A	ENSP00000311605:p.Arg308Lys						p.R308K	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	923	+			308			Cytoplasmic (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.923G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	0.647	-0.811195	0.02798	.	.	ENSG00000175619	ENST00000309562	T	0.00537	6.72	5.23	1.61	0.23674	.	3.462690	0.01275	N	0.009551	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45483	-0.9258	10	0.11182	T	0.66	.	7.0458	0.25044	0.1291:0.0:0.5104:0.3605	.	308	Q8NGF8	OR4B1_HUMAN	K	308	ENSP00000311605:R308K	ENSP00000311605:R308K	R	+	2	0	OR4B1	48195860	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.932000	0.03963	0.293000	0.22520	-2.242000	0.00287	AGG		PASS	0.403	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		25	40	25	40	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371530	55371530	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:55371530C>A	ENST00000302231.4	-	1	344	c.320G>T	c.(319-321)tGc>tTc	p.C107F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C107Y(1)|p.C107F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATCTCCATGCAGCCAAATAA	0.448																																						uc010rii.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(319-321)TGC>TTC		olfactory receptor, family 4, subfamily C,							109.0	91.0	97.0					11																	55371530		2179	4006	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371530C>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.320G>T	11.37:g.55371530C>A	ENSP00000306651:p.Cys107Phe						p.C107F	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	320	-			107			Helical; Name=3; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.320G>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	4.482	0.089368	0.08632	.	.	ENSG00000172188	ENST00000302231	T	0.02974	4.09	4.34	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.247001	0.28901	U	0.013773	T	0.03871	0.0109	M	0.63208	1.945	0.09310	N	1	B	0.31485	0.325	B	0.30029	0.11	T	0.29792	-1.0000	10	0.87932	D	0	.	7.9954	0.30265	0.0:0.549:0.3589:0.0921	.	107	Q6IEV9	OR4CB_HUMAN	F	107	ENSP00000306651:C107F	ENSP00000306651:C107F	C	-	2	0	OR4C11	55128106	0.000000	0.05858	0.822000	0.32727	0.322000	0.28314	-1.401000	0.02502	0.126000	0.18424	0.478000	0.44815	TGC		PASS	0.448	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		54	80	54	80	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55419153	55419154	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:55419153_55419154CC>AA	ENST00000312422.2	+	1	774_775	c.774_775CC>AA	c.(772-777)cgCCct>cgAAct	p.P259T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P259T(2)|p.R258R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGTACATGCGCCCTGATACGAC	0.465																																						uc001nhs.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(2)|ovary(1)	3						c.(772-774)CGC>CGA|c.(775-777)CCT>ACT		olfactory receptor, family 4, subfamily S,																																				SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419153C>A|g.chr11:55419154C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	Exception_encountered	11.37:g.55419153_55419154delinsAA	ENSP00000310337:p.Pro259Thr						p.R258R|p.P259T	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	774|775	+		all_epithelial(135;0.0748)	258|259			Extracellular (Potential).		Q6IF72	Silent|Missense_Mutation	SNP	ENST00000312422.2	37	c.774C>A|c.775C>A	CCDS31505.1																																																																																				PASS	0.465	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		122|121	144|147	121	144	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433452	55433452	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:55433452T>A	ENST00000314259.3	+	1	839	c.810T>A	c.(808-810)gcT>gcA	p.A270A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGGCAATGGCTGTGTCAGACT	0.473																																						uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(808-810)GCT>GCA		olfactory receptor, family 4, subfamily C,							102.0	99.0	100.0					11																	55433452		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433452T>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.810T>A	11.37:g.55433452T>A						OR4C6_uc010rik.1_Silent_p.A270A	p.A270A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1075	+			270			Helical; Name=7; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.810T>A	CCDS31506.1																																																																																				PASS	0.473	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		23	116	23	116	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861250	55861250	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:55861250C>A	ENST00000302124.2	+	1	498	c.467C>A	c.(466-468)tCg>tAg	p.S156*		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156*(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)					TTCACAAGCTCGCTGATATCT	0.433																																						uc010rix.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(466-468)TCG>TAG		olfactory receptor, family 8, subfamily I,							148.0	138.0	141.0					11																	55861250		2201	4296	6497	SO:0001587	stop_gained	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861250C>A	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.467C>A	11.37:g.55861250C>A	ENSP00000303864:p.Ser156*						p.S156*	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	467	+	Esophageal squamous(21;0.00693)		156			Helical; Name=4; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Nonsense_Mutation	SNP	ENST00000302124.2	37	c.467C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.611	0.481177	0.12581	.	.	ENSG00000172154	ENST00000302124	.	.	.	4.33	4.33	0.51752	.	0.000000	0.40064	U	0.001187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-16.8543	10.0012	0.41929	0.0:0.9045:0.0:0.0955	.	.	.	.	X	156	.	ENSP00000303864:S156X	S	+	2	0	OR8I2	55617826	0.002000	0.14202	0.118000	0.21660	0.006000	0.05464	1.238000	0.32707	2.115000	0.64714	0.440000	0.28878	TCG		PASS	0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		39	149	39	149	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020637	56020637	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:56020637G>C	ENST00000303059.3	+	1	962	c.962G>C	c.(961-963)aGt>aCt	p.S321T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S321T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCATCTATAGTTTGAGGAAC	0.308																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)AGT>ACT		olfactory receptor, family 5, subfamily T,							54.0	52.0	53.0					11																	56020637		2201	4294	6495	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020637G>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.962G>C	11.37:g.56020637G>C	ENSP00000305403:p.Ser321Thr						p.S321T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	962	+	Esophageal squamous(21;0.00448)		321			Helical; Name=7; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.962G>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370314	0.24771	.	.	ENSG00000172489	ENST00000303059	T	0.37752	1.18	4.32	3.4	0.38934	.	0.000000	0.56097	D	0.000032	T	0.41558	0.1164	M	0.64170	1.965	0.25769	N	0.98486	P	0.50710	0.938	P	0.48770	0.589	T	0.33137	-0.9880	10	0.66056	D	0.02	.	9.7263	0.40333	0.0798:0.1407:0.7795:0.0	.	321	Q8NGG3	OR5T3_HUMAN	T	321	ENSP00000305403:S321T	ENSP00000305403:S321T	S	+	2	0	OR5T3	55777213	0.978000	0.34361	0.905000	0.35620	0.246000	0.25737	4.589000	0.61006	1.163000	0.42636	-0.148000	0.13756	AGT		PASS	0.308	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		9	95	9	95	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995796	57995796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:57995796G>T	ENST00000316770.2	-	1	594	c.552C>A	c.(550-552)tgC>tgA	p.C184*		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C184*(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAGGCACATCGCAGAGGAAGT	0.642																																						uc010rkd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(550-552)TGC>TGA		olfactory receptor, family 10, subfamily Q,							72.0	62.0	65.0					11																	57995796		2201	4295	6496	SO:0001587	stop_gained	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995796G>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.552C>A	11.37:g.57995796G>T	ENSP00000314324:p.Cys184*						p.C184*	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	552	-		Breast(21;0.0589)	184			Extracellular (Potential).		Q6IFG4	Nonsense_Mutation	SNP	ENST00000316770.2	37	c.552C>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090416	0.55968	.	.	ENSG00000180475	ENST00000316770	.	.	.	4.53	-2.43	0.06522	.	0.000000	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2877	0.49230	0.8463:0.0:0.1537:0.0	.	.	.	.	X	184	.	ENSP00000314324:C184X	C	-	3	2	OR10Q1	57752372	0.278000	0.24230	0.708000	0.30435	0.736000	0.42039	-0.211000	0.09332	-0.679000	0.05217	0.555000	0.69702	TGC		PASS	0.642	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		3	50	3	50	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211269	59211269	+	Missense_Mutation	SNP	G	G	A	rs149491111	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:59211269G>A	ENST00000302030.2	+	1	653	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G210R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGTCACTGTCGGAGGAACATC	0.532																																						uc001nnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(628-630)GGA>AGA		olfactory receptor, family 5, subfamily A,		G	ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	215.0	204.0	208.0		628	6.0	0.7	11	dbSNP_134	208	2,8588	2.2+/-6.3	0,2,4293	yes	missense	OR5A1	NM_001004728.1	125	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	210/316	59211269	3,12989	2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211269G>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.628G>A	11.37:g.59211269G>A	ENSP00000303096:p.Gly210Arg						p.G210R	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	628	+			210			Helical; Name=5; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.628G>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339811	0.24339	2.27E-4	2.33E-4	ENSG00000172320	ENST00000302030	T	0.37411	1.2	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.117057	0.38381	N	0.001709	T	0.66597	0.2805	M	0.89840	3.065	0.21762	N	0.999555	D	0.89917	1.0	D	0.97110	1.0	T	0.64563	-0.6378	10	0.15499	T	0.54	-10.0969	18.9954	0.92810	0.0:0.0:1.0:0.0	.	210	Q8NGJ0	OR5A1_HUMAN	R	210	ENSP00000303096:G210R	ENSP00000303096:G210R	G	+	1	0	OR5A1	58967845	0.003000	0.15002	0.707000	0.30419	0.005000	0.04900	1.540000	0.36115	2.826000	0.97356	0.637000	0.83480	GGA		PASS	0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		76	143	76	143	---	---	---	---
RAD9A	5883	broad.mit.edu	37	11	67160217	67160217	+	Silent	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:67160217T>G	ENST00000307980.2	+	3	291	c.198T>G	c.(196-198)ccT>ccG	p.P66P	RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	66	Possesses 3'-5' exonuclease activity.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.P66P(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGCCACCCCTGGTCAGGACC	0.612								Other conserved DNA damage response genes																														uc001okr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(196-198)CCT>CCG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD9 homolog							93.0	79.0	84.0					11																	67160217		2200	4295	6495	SO:0001819	synonymous_variant	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67160217T>G	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.198T>G	11.37:g.67160217T>G						RAD9A_uc001oks.2_5'Flank	p.P66P	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		3	291	+			66			Possesses 3'-5' exonuclease activity.		B2RCZ8|Q6FI29|Q96C41	Silent	SNP	ENST00000307980.2	37	c.198T>G	CCDS8159.1																																																																																				PASS	0.612	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		24	94	24	94	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	69950238	69950238	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:69950238C>A	ENST00000355303.5	+	4	979	c.674C>A	c.(673-675)tCc>tAc	p.S225Y	ANO1_ENST00000398543.2_Missense_Mutation_p.S109Y|ANO1_ENST00000538023.1_Missense_Mutation_p.S225Y|ANO1_ENST00000530676.1_Missense_Mutation_p.S109Y|ANO1_ENST00000316296.5_Missense_Mutation_p.S197Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	225					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.S225Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TATCCCTTCTCCCGGGAGAAG	0.517																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(673-675)TCC>TAC		anoctamin 1, calcium activated chloride channel							35.0	37.0	36.0					11																	69950238		1866	4103	5969	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69950238C>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.674C>A	11.37:g.69950238C>A	ENSP00000347454:p.Ser225Tyr					ANO1_uc001opk.1_Missense_Mutation_p.S197Y|ANO1_uc001opl.1_RNA	p.S225Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			4	979	+			225			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.674C>A	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.73|17.73	3.462112|3.462112	0.63513|0.63513	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	.|T;T;T;T;T;T	.|0.68025	.|-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.25|5.25	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82111|0.82111	0.4966|0.4966	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.99	D|D	0.83898|0.83898	0.0288|0.0288	5|9	.|.	.|.	.|.	.|.	15.0236|15.0236	0.71650|0.71650	0.0:0.8581:0.1419:0.0|0.0:0.8581:0.1419:0.0	.|.	.|197;225	.|Q5XXA6-3;Q5XXA6	.|.;ANO1_HUMAN	T|Y	68|225;225;109;9;192;197;109	.|ENSP00000347454:S225Y;ENSP00000444689:S225Y;ENSP00000381551:S109Y;ENSP00000436392:S192Y;ENSP00000319477:S197Y;ENSP00000435797:S109Y	.|.	P|S	+|+	1|2	0|0	ANO1|ANO1	69627886|69627886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.685000|0.685000	0.39939|0.39939	5.128000|5.128000	0.64733|0.64733	2.460000|2.460000	0.83146|0.83146	0.650000|0.650000	0.86243|0.86243	CCC|TCC		PASS	0.517	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		12	16	12	16	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77404559	77404559	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:77404559C>A	ENST00000308488.6	-	8	3115	c.2813G>T	c.(2812-2814)tGc>tTc	p.C938F	RSF1_ENST00000480887.1_Missense_Mutation_p.C686F|RSF1_ENST00000360355.2_Missense_Mutation_p.C907F|Y_RNA_ENST00000384089.1_RNA			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	938					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.C938F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TACATGTTGGCAAGGTGGGCA	0.418																																						uc001oyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2812-2814)TGC>TTC		remodeling and spacing factor 1							124.0	110.0	115.0					11																	77404559		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77404559C>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2813G>T	11.37:g.77404559C>A	ENSP00000311513:p.Cys938Phe					RSF1_uc001oym.2_Missense_Mutation_p.C686F	p.C938F	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		8	2933	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		938			PHD-type.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.2813G>T	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601371	0.87055	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026;ENST00000526324	D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63	4.75	4.75	0.60458	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000021	D	0.99725	0.9893	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96910	0.9666	10	0.87932	D	0	-6.2336	17.5471	0.87865	0.0:1.0:0.0:0.0	.	938	Q96T23	RSF1_HUMAN	F	938;686;907;47;739	ENSP00000311513:C938F;ENSP00000434509:C686F;ENSP00000353511:C907F;ENSP00000433603:C47F;ENSP00000432022:C739F	ENSP00000311513:C938F	C	-	2	0	RSF1	77082207	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.627000	0.83176	2.459000	0.83118	0.563000	0.77884	TGC		PASS	0.418	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		15	19	15	19	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380569	78380569	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:78380569G>A	ENST00000278550.7	-	32	7283	c.6821C>T	c.(6820-6822)gCt>gTt	p.A2274V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2274					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A2274V(2)									GAGCAGGCCAGCTGAGTTGTA	0.612																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(6820-6822)GCT>GTT		odz, odd Oz/ten-m homolog 4							119.0	127.0	124.0					11																	78380569		2153	4256	6409	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380569G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6821C>T	11.37:g.78380569G>A	ENSP00000278550:p.Ala2274Val					ODZ4_uc001ozk.3_Missense_Mutation_p.A499V|ODZ4_uc009yvb.1_Missense_Mutation_p.A858V	p.A2274V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	7284	-			2274			Extracellular (Potential).|YD 21.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6821C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012458	0.75046	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90261	-2.64;0.79	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	L	0.44542	1.39	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	D	0.92181	0.5751	9	.	.	.	.	18.8078	0.92045	0.0:0.0:1.0:0.0	.	2274	Q6N022	TEN4_HUMAN	V	2274;738	ENSP00000278550:A2274V;ENSP00000431711:A738V	.	A	-	2	0	ODZ4	78058217	1.000000	0.71417	0.994000	0.49952	0.939000	0.58152	4.503000	0.60407	2.677000	0.91161	0.655000	0.94253	GCT		PASS	0.612	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			34	147	34	147	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087084	92087084	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:92087084G>A	ENST00000298047.6	+	1	1823	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FAT3_ENST00000525166.1_Silent_p.A452A|FAT3_ENST00000409404.2_Silent_p.A602A|FAT3_ENST00000541502.1_Silent_p.A602A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A602A(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTCTCAGCGATCGATATCG	0.393										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1804-1806)GCG>GCA		FAT tumor suppressor homolog 3							55.0	56.0	55.0					11																	92087084		1868	4111	5979	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087084G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1806G>A	11.37:g.92087084G>A		TCGA Ovarian(4;0.039)					p.A602A	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	1823	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	602			Cadherin 6.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.1806G>A																																																																																					PASS	0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	40	9	40	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100126584	100126584	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:100126584C>A	ENST00000524871.1	+	17	2388	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P700T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P626T|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P700T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P700T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	700	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P700T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAACCACAGCCCAATCTCCTC	0.512																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2098-2100)CCA>ACA		contactin 5 isoform long							112.0	125.0	121.0					11																	100126584		2035	4201	6236	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126584C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2098C>A	11.37:g.100126584C>A	ENSP00000435637:p.Pro700Thr					CNTN5_uc001pfz.2_Missense_Mutation_p.P700T|CNTN5_uc001pgb.2_Missense_Mutation_p.P626T|CNTN5_uc010ruk.1_5'UTR	p.P700T	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	17	2437	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	700			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2098C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550650	0.86127	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87158	0.2213	10	0.87932	D	0	.	18.5146	0.90931	0.0:1.0:0.0:0.0	.	626;700	O94779-2;O94779	.;CNTN5_HUMAN	T	700;700;700;626;700	ENSP00000433575:P700T;ENSP00000436185:P700T;ENSP00000435637:P700T;ENSP00000393229:P626T;ENSP00000279463:P700T	ENSP00000279463:P700T	P	+	1	0	CNTN5	99631794	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.487000	0.81328	2.623000	0.88846	0.561000	0.74099	CCA		PASS	0.512	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		33	125	33	125	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101359755	101359755	+	Silent	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:101359755T>A	ENST00000344327.3	-	4	1630	c.1206A>T	c.(1204-1206)acA>acT	p.T402T	TRPC6_ENST00000532133.1_Silent_p.T402T|TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	402					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.T402T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGACCGCCATTGTCTGCTGTC	0.458																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1204-1206)ACA>ACT		transient receptor potential cation channel,							95.0	87.0	90.0					11																	101359755		2203	4299	6502	SO:0001819	synonymous_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101359755T>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1206A>T	11.37:g.101359755T>A						TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	p.T402T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	4	1631	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	402			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	c.1206A>T	CCDS8311.1																																																																																				PASS	0.458	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		10	79	10	79	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102595563	102595563	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:102595563T>C	ENST00000236826.3	-	1	122	c.24A>G	c.(22-24)ccA>ccG	p.P8P		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.P8P(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGAGCAGAAATGGAAGCGTCT	0.458																																						uc001phe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(22-24)CCA>CCG		matrix metalloproteinase 8 preproprotein							165.0	176.0	172.0					11																	102595563		2203	4299	6502	SO:0001819	synonymous_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102595563T>C	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.24A>G	11.37:g.102595563T>C						MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_5'UTR	p.P8P	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	1	123	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	8					Q45F99	Silent	SNP	ENST00000236826.3	37	c.24A>G	CCDS8320.1																																																																																				PASS	0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		181	194	181	194	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105923774	105923774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:105923774C>A	ENST00000526793.1	-	3	1801	c.1642G>T	c.(1642-1644)Gga>Tga	p.G548*	KBTBD3_ENST00000534815.1_Nonsense_Mutation_p.G469*|KBTBD3_ENST00000531837.1_Nonsense_Mutation_p.G548*	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	544								p.G548*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTTCAATTCCAATTGCACCT	0.398																																						uc001pja.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1642-1644)GGA>TGA		BTB and kelch domain containing 3							75.0	75.0	75.0					11																	105923774		2201	4298	6499	SO:0001587	stop_gained	143879							g.chr11:105923774C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1642G>T	11.37:g.105923774C>A	ENSP00000436262:p.Gly548*					KBTBD3_uc001pjb.2_Nonsense_Mutation_p.G548*|KBTBD3_uc009yxm.2_Nonsense_Mutation_p.G469*	p.G548*	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2282	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	544					Q6N066|Q86X38|Q96NK5	Nonsense_Mutation	SNP	ENST00000526793.1	37	c.1642G>T	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	42	9.279669	0.99123	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	.	.	.	5.97	5.06	0.68205	.	0.094114	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8047	0.85623	0.1299:0.87:0.0:0.0	.	.	.	.	X	469;548;548	.	ENSP00000436262:G548X	G	-	1	0	KBTBD3	105428984	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.727000	0.68523	1.547000	0.49401	-0.196000	0.12772	GGA		PASS	0.398	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		39	100	39	100	---	---	---	---
MPZL3	196264	broad.mit.edu	37	11	118110946	118110946	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:118110946T>C	ENST00000278949.4	-	2	275	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	MPZL3_ENST00000527472.1_Missense_Mutation_p.S62G|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	74	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)		p.S74G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGCTGCTGCTGGGAGGGCGA	0.418																																						uc001psm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)AGC>GGC		myelin protein zero-like 3 precursor							233.0	181.0	198.0					11																	118110946		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118110946T>C	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.220A>G	11.37:g.118110946T>C	ENSP00000278949:p.Ser74Gly					MPZL3_uc010rxy.1_Missense_Mutation_p.S62G|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	p.S74G	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	222	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	74			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.220A>G	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381715	0.42207	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	T;T	0.60299	0.2;0.2	5.5	3.11	0.35812	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.277919	0.38436	N	0.001693	T	0.28499	0.0705	N	0.05124	-0.11	0.38988	D	0.959099	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.02654	T	1	.	9.4763	0.38873	0.0:0.2133:0.0:0.7867	.	62;74	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	G	74;62	ENSP00000278949:S74G;ENSP00000432106:S62G	ENSP00000278949:S74G	S	-	1	0	MPZL3	117616156	0.880000	0.30214	0.991000	0.47740	0.961000	0.63080	0.331000	0.19733	0.430000	0.26230	0.460000	0.39030	AGC		PASS	0.418	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		21	195	21	195	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252601	124252601	+	Silent	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:124252601G>T	ENST00000375013.2	-	1	657	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T213T(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)		AAATGAGGATGGTACAACTGG	0.433																																						uc010sai.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)ACC>ACA		olfactory receptor, family 8, subfamily B,							133.0	139.0	137.0					11																	124252601		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252601G>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.639C>A	11.37:g.124252601G>T							p.T213T	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	639	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	213			Helical; Name=5; (Potential).		Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.639C>A	CCDS31708.1																																																																																				PASS	0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		71	212	71	212	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252884	124252884	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:124252884G>T	ENST00000375013.2	-	1	374	c.356C>A	c.(355-357)gCa>gAa	p.A119E		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119E(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)		GCGATCATATGCCATTGAAGT	0.403																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)GCA>GAA		olfactory receptor, family 8, subfamily B,							66.0	67.0	66.0					11																	124252884		2201	4297	6498	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252884G>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.356C>A	11.37:g.124252884G>T	ENSP00000364152:p.Ala119Glu						p.A119E	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	356	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	119			Helical; Name=3; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.356C>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.832885	0.71258	.	.	ENSG00000204293	ENST00000375013	T	0.56103	0.48	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	D	0.83166	0.5195	H	0.98996	4.395	0.46725	D	0.99917	D	0.76494	0.999	D	0.80764	0.994	D	0.90320	0.4344	10	0.87932	D	0	.	15.7133	0.77649	0.0:0.0:1.0:0.0	.	119	Q96RD0	OR8B2_HUMAN	E	119	ENSP00000364152:A119E	ENSP00000364152:A119E	A	-	2	0	OR8B2	123758094	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.211000	0.77933	2.359000	0.80004	0.400000	0.26472	GCA		PASS	0.403	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		34	38	34	38	---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124266892	124266892	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:124266892G>T	ENST00000354597.3	-	1	372	c.356C>A	c.(355-357)gCa>gAa	p.A119E		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A119E(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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)		GCGATCATATGCCATTGAGGT	0.393																																						uc010saj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(355-357)GCA>GAA		olfactory receptor, family 8, subfamily B,							82.0	71.0	75.0					11																	124266892		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266892G>T	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.356C>A	11.37:g.124266892G>T	ENSP00000346611:p.Ala119Glu					OR8B2_uc001qab.3_Intron	p.A119E	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	356	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	119			Helical; Name=3; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.356C>A	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	17.79	3.476511	0.63737	.	.	ENSG00000196661	ENST00000354597	T	0.56103	0.48	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	D	0.82972	0.5153	H	0.98866	4.355	0.49483	D	0.999795	D	0.76494	0.999	D	0.76575	0.988	D	0.90560	0.4515	10	0.87932	D	0	.	15.8757	0.79159	0.0:0.0:1.0:0.0	.	119	Q8NGG8	OR8B3_HUMAN	E	119	ENSP00000346611:A119E	ENSP00000346611:A119E	A	-	2	0	OR8B3	123772102	1.000000	0.71417	0.999000	0.59377	0.264000	0.26372	7.108000	0.77055	2.237000	0.73441	0.637000	0.83480	GCA		PASS	0.393	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		4	58	4	58	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2929370	2929370	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:2929370G>A	ENST00000228799.2	+	5	664	c.525G>A	c.(523-525)aaG>aaA	p.K175K	ITFG2_ENST00000419778.2_5'UTR|ITFG2_ENST00000542548.1_Silent_p.K63K	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	175					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.K175N(1)|p.K175K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTCCCTCAAGAAATGGATGC	0.602																																						uc001qlb.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(523-525)AAG>AAA		integrin alpha FG-GAP repeat containing 2							74.0	54.0	61.0					12																	2929370		2203	4300	6503	SO:0001819	synonymous_variant	55846							g.chr12:2929370G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.525G>A	12.37:g.2929370G>A						ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	p.K175K	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	589	+			175					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Silent	SNP	ENST00000228799.2	37	c.525G>A	CCDS8513.1																																																																																				PASS	0.602	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		5	26	5	26	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021420	5021420	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:5021420G>T	ENST00000382545.3	+	2	1983	c.876G>T	c.(874-876)agG>agT	p.R292S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	292					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.R292S(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCATCCTCAGGGTCATCCGCT	0.552																																						uc001qnh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(874-876)AGG>AGT		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	68.0	67.0					12																	5021420		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021420G>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.876G>T	12.37:g.5021420G>T	ENSP00000371985:p.Arg292Ser						p.R292S	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1981	+			292			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.876G>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227707	0.58668	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98862	-5.19	5.08	3.26	0.37387	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	H	0.94734	3.575	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.99331	1.0909	10	0.87932	D	0	.	8.0839	0.30760	0.2374:0.0:0.7626:0.0	.	292	Q09470	KCNA1_HUMAN	S	292	ENSP00000371985:R292S	ENSP00000228858:R292S	R	+	3	2	KCNA1	4891681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.550000	0.53691	1.507000	0.48752	0.655000	0.94253	AGG		PASS	0.552	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		54	102	54	102	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7649411	7649411	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:7649411G>T	ENST00000359156.4	-	5	1299	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y	CD163_ENST00000396620.3_Missense_Mutation_p.S366Y|CD163_ENST00000432237.2_Missense_Mutation_p.S366Y|CD163_ENST00000541972.1_Missense_Mutation_p.S354Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	366	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S366Y(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAACTTACCAGAACATGTCAC	0.413																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1096-1098)TCT>TAT		CD163 antigen isoform a							86.0	69.0	75.0					12																	7649411		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649411G>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1097C>A	12.37:g.7649411G>T	ENSP00000352071:p.Ser366Tyr					CD163_uc001qta.3_Missense_Mutation_p.S366Y|CD163_uc009zfw.2_Missense_Mutation_p.S366Y	p.S366Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			5	1225	-			366			SRCR 3.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1097C>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061288	0.55432	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.74	4.74	0.60224	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.384731	0.21825	N	0.068569	T	0.49012	0.1532	L	0.53617	1.68	0.37045	D	0.897301	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.995	T	0.50276	-0.8847	10	0.39692	T	0.17	.	13.9559	0.64147	0.0:0.0:1.0:0.0	.	366;366;366	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	366;354;366;366	ENSP00000352071:S366Y;ENSP00000444071:S354Y;ENSP00000379863:S366Y;ENSP00000403885:S366Y	ENSP00000352071:S366Y	S	-	2	0	CD163	7540678	1.000000	0.71417	0.996000	0.52242	0.660000	0.38997	4.583000	0.60964	2.562000	0.86427	0.561000	0.74099	TCT		PASS	0.413	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		60	144	60	144	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9316787	9316787	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:9316787A>G	ENST00000261336.2	-	20	2584	c.2556T>C	c.(2554-2556)taT>taC	p.Y852Y	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	852					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y852Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACAGATACAATAGGATTCTT	0.468																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2554-2556)TAT>TAC		pregnancy-zone protein precursor							180.0	167.0	171.0					12																	9316787		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9316787A>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2556T>C	12.37:g.9316787A>G						PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron	p.Y852Y	NM_002864	NP_002855					20	2585	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2556T>C	CCDS8600.1																																																																																				PASS	0.468	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		105	186	105	186	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21196331	21196331	+	Missense_Mutation	SNP	T	T	A	rs202053768		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:21196331T>A	ENST00000421593.2	+	6	650	c.650T>A	c.(649-651)gTg>gAg	p.V217E	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V264E|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.V264E	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V217E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGTTTCCTTGTGTCTGGAATA	0.358																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)GTG>GAG		liver-specific organic anion transporter 3TM12							167.0	169.0	169.0					12																	21196331		2203	4300	6503	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21196331T>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.650T>A	12.37:g.21196331T>A	ENSP00000394168:p.Val217Glu					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.V264E	p.V217E	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	650	+			217					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.650T>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.123798	0.37436	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;D	0.82619	0.73;0.73;-1.63	3.17	2.01	0.26516	.	0.689444	0.14169	N	0.336879	D	0.88757	0.6523	M	0.85777	2.775	0.26475	N	0.975209	D;D	0.62365	0.974;0.991	P;P	0.61800	0.894;0.894	T	0.78795	-0.2064	10	0.87932	D	0	.	6.0583	0.19824	0.0:0.1292:0.0:0.8708	.	217;264	G3V0H7;F5H094	.;.	E	264;264;217	ENSP00000370952:V264E;ENSP00000452013:V264E;ENSP00000394168:V217E	ENSP00000370952:V264E	V	+	2	0	SLCO1B7;RP11-545J16.1	21087598	0.398000	0.25279	0.677000	0.29947	0.529000	0.34654	4.249000	0.58766	0.425000	0.26087	0.254000	0.18369	GTG		PASS	0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		110	170	110	170	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21453281	21453281	+	Splice_Site	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:21453281C>A	ENST00000307378.6	-	9	1631		c.e9+1		SLCO1A2_ENST00000537524.1_Splice_Site|SLCO1A2_ENST00000458504.1_Splice_Site|SLCO1A2_ENST00000452078.1_Splice_Site|SLCO1A2_ENST00000390670.3_Splice_Site	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.?(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TGTATATTTGCCTTTAGTGAT	0.299																																						uc001rer.2																			1	Unknown(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.e7+1		organic anion transporting polypeptide A							78.0	79.0	79.0					12																	21453281		2202	4300	6502	SO:0001630	splice_region_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453281C>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.910+1G>T	12.37:g.21453281C>A						SLCO1A2_uc001res.2_Splice_Site_p.D304_splice|SLCO1A2_uc010siq.1_Splice_Site_p.D172_splice|SLCO1A2_uc010sio.1_Splice_Site_p.D172_splice|SLCO1A2_uc010sip.1_Splice_Site_p.D172_splice|SLCO1A2_uc001ret.2_Splice_Site_p.D302_splice|SLCO1A2_uc001reu.2_Splice_Site_p.D284_splice	p.D304_splice	NM_021094	NP_066580	P46721	SO1A2_HUMAN			7	1161	-								Q9UGP7|Q9UL38	Splice_Site	SNP	ENST00000307378.6	37	c.910_splice	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756747	0.49362	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	.	.	.	5.52	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1496	0.65373	0.15:0.85:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO1A2	21344548	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.405000	0.66351	1.313000	0.45069	0.462000	0.41574	.		PASS	0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	Intron	28	76	28	76	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31241998	31241998	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:31241998A>G	ENST00000407793.2	+	7	956	c.705A>G	c.(703-705)acA>acG	p.T235T	DDX11_ENST00000542838.1_Silent_p.T235T|DDX11_ENST00000545668.1_Silent_p.T235T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.T209T|DDX11_ENST00000350437.4_Silent_p.T235T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	235	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.T235T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTAGTCGGACACACTCCCAGC	0.522										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - coding silent(2)		lung(2)	breast(3)	3						c.(703-705)ACA>ACG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							106.0	102.0	104.0					12																	31241998		2203	4300	6503	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31241998A>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.705A>G	12.37:g.31241998A>G		Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Silent_p.T235T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.T235T|DDX11_uc001rjs.1_Silent_p.T235T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.T235T|DDX11_uc001rjw.1_Silent_p.T209T|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	p.T235T	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			7	956	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		235			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.705A>G	CCDS44856.1																																																																																				PASS	0.522	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		14	303	14	303	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63964606	63964606	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:63964606C>G	ENST00000324472.4	-	20	2115	c.1932G>C	c.(1930-1932)atG>atC	p.M644I	DPY19L2_ENST00000413230.2_Missense_Mutation_p.M91I	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	644					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.M644I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGATGCTTGCCATTGTAGGCA	0.373																																						uc001srp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1930-1932)ATG>ATC		dpy-19-like 2							94.0	77.0	83.0					12																	63964606		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63964606C>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1932G>C	12.37:g.63964606C>G	ENSP00000315988:p.Met644Ile					DPY19L2_uc010sso.1_Missense_Mutation_p.M91I	p.M644I	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	20	2113	-			644					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1932G>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.232864	0.22626	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.54479	0.57;0.57	3.3	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	M	0.82923	2.615	0.54753	D	0.999985	D	0.63046	0.992	D	0.65773	0.938	T	0.74569	-0.3622	9	.	.	.	.	12.0956	0.53752	0.0:1.0:0.0:0.0	.	644	Q6NUT2	D19L2_HUMAN	I	644;91	ENSP00000315988:M644I;ENSP00000439794:M91I	.	M	-	3	0	DPY19L2	62250873	1.000000	0.71417	0.992000	0.48379	0.169000	0.22640	6.547000	0.73892	1.656000	0.50722	0.195000	0.17529	ATG		PASS	0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		52	60	52	60	---	---	---	---
CPM	1368	broad.mit.edu	37	12	69265737	69265737	+	Splice_Site	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:69265737C>G	ENST00000551568.1	-	4	319		c.e4-1		CPM_ENST00000546373.1_Splice_Site|CPM_ENST00000338356.3_Splice_Site	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M						anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCCCAACAGTCTATATGTGTT	0.443																																						uc001sup.2																			1	Unknown(1)		lung(1)		0						c.e4-1		carboxypeptidase M precursor							90.0	84.0	86.0					12																	69265737		2203	4300	6503	SO:0001630	splice_region_variant	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69265737C>G	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.259-1G>C	12.37:g.69265737C>G						CPM_uc001sur.2_Splice_Site_p.T87_splice|CPM_uc001suq.2_Splice_Site_p.T87_splice	p.T87_splice	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	320	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)							B2R800|Q9H2K9	Splice_Site	SNP	ENST00000551568.1	37	c.259_splice	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041605	0.75732	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.267	0.93990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPM	67552004	1.000000	0.71417	0.990000	0.47175	0.801000	0.45260	7.667000	0.83888	2.718000	0.92993	0.650000	0.86243	.		PASS	0.443	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320	Intron	53	34	53	34	---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96312661	96312661	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:96312661T>G	ENST00000344280.3	-	3	688	c.131A>C	c.(130-132)aAg>aCg	p.K44T	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	44								p.K44T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACCGTTTCCTTTGCTGCCAT	0.358																																						uc001tek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(130-132)AAG>ACG		coiled-coil domain containing 38							169.0	156.0	160.0					12																	96312661		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96312661T>G	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.131A>C	12.37:g.96312661T>G	ENSP00000345470:p.Lys44Thr						p.K44T	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			3	365	-			44					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.131A>C	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392978	0.42410	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.35421	1.31	4.85	-0.226	0.13106	.	0.189935	0.42420	D	0.000710	T	0.30230	0.0758	L	0.32530	0.975	0.22858	N	0.998649	D	0.57899	0.981	P	0.49637	0.617	T	0.19484	-1.0304	10	0.66056	D	0.02	-9.5357	7.4983	0.27503	0.0:0.4594:0.0:0.5406	.	44	Q502W7	CCD38_HUMAN	T	44;4	ENSP00000345470:K44T	ENSP00000345470:K44T	K	-	2	0	CCDC38	94836792	0.012000	0.17670	0.058000	0.19502	0.007000	0.05969	-0.232000	0.09055	-0.112000	0.11979	0.459000	0.35465	AAG		PASS	0.358	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		58	50	58	50	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113599121	113599121	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:113599121G>T	ENST00000306014.5	-	19	2394	c.2367C>A	c.(2365-2367)gaC>gaA	p.D789E	DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000314045.7_Missense_Mutation_p.D789E	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	789					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.D789E(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCTCGCCGGTCAGATGCCC	0.572																																						uc001tup.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2365-2367)GAC>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							220.0	166.0	184.0					12																	113599121		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599121G>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2367C>A	12.37:g.113599121G>T	ENSP00000304072:p.Asp789Glu					DDX54_uc001tuq.3_Missense_Mutation_p.D789E	p.D789E	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			19	2395	-			789					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2367C>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	6.008	0.369905	0.11352	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.08807	3.08;3.05	4.12	-6.01	0.02199	DBP10CT (1);	0.857101	0.10152	N	0.709456	T	0.03220	0.0094	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.46205	-0.9208	10	0.02654	T	1	.	5.8814	0.18858	0.1458:0.4817:0.2764:0.096	.	789;789	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	E	789	ENSP00000323858:D789E;ENSP00000304072:D789E	ENSP00000304072:D789E	D	-	3	2	DDX54	112083504	0.001000	0.12720	0.002000	0.10522	0.309000	0.27889	-0.295000	0.08298	-1.043000	0.03258	0.313000	0.20887	GAC		PASS	0.572	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		53	33	53	33	---	---	---	---
SDS	10993	broad.mit.edu	37	12	113831701	113831701	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:113831701G>A	ENST00000257549.4	-	7	896	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	258					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.F258F(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	ACATACCCACGAACTTCTCAA	0.567																																						uc001tvg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(772-774)TTC>TTT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						93.0	84.0	87.0					12																	113831701		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113831701G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.774C>T	12.37:g.113831701G>A							p.F258F	NM_006843	NP_006834	P20132	SDHL_HUMAN			7	896	-			258					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.774C>T	CCDS9169.1																																																																																				PASS	0.567	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		72	56	72	56	---	---	---	---
CABP1	9478	broad.mit.edu	37	12	121098054	121098054	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:121098054C>T	ENST00000316803.3	+	3	875	c.741C>T	c.(739-741)tgC>tgT	p.C247C	CABP1_ENST00000288616.3_Silent_p.C104C|CABP1_ENST00000453000.1_Silent_p.C183C|CABP1_ENST00000351200.2_Silent_p.C44C	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	247	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.C247C(1)|p.C104C(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACATCAACTGCCGGGATCTGG	0.572																																						uc001tyu.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(739-741)TGC>TGT		calcium binding protein 1 isoform 3							127.0	110.0	116.0					12																	121098054		2203	4300	6503	SO:0001819	synonymous_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098054C>T	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.741C>T	12.37:g.121098054C>T						CABP1_uc001tyv.2_Silent_p.C104C|CABP1_uc001tyw.2_Silent_p.C44C|CABP1_uc001tyx.2_Silent_p.C89C	p.C247C	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			3	808	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		247			1.|EF-hand 1.		O95663|Q8N6H5|Q9NZU8	Silent	SNP	ENST00000316803.3	37	c.741C>T	CCDS31913.1																																																																																				PASS	0.572	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		12	83	12	83	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687280	123687280	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:123687280C>A	ENST00000606320.1	-	10	1878	c.1672G>T	c.(1672-1674)Gtc>Ttc	p.V558F	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.V406F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.V528F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.V406F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	558						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V406F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCAACCATGACAGTGTTTTCT	0.448																																						uc001uel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)GTC>TTC		M-phase phosphoprotein 9							136.0	125.0	128.0					12																	123687280		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687280C>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1672G>T	12.37:g.123687280C>A	ENSP00000475489:p.Val558Phe					MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.V406F	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1323	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		406					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1216G>T		.	.	.	.	.	.	.	.	.	.	C	16.33	3.092847	0.56075	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.33438	1.41;1.42	5.24	4.35	0.52113	.	0.786737	0.11873	N	0.521250	T	0.40595	0.1123	L	0.54323	1.7	0.34423	D	0.697639	P	0.49635	0.926	P	0.55545	0.778	T	0.11591	-1.0581	10	0.09843	T	0.71	-5.7098	12.3216	0.54987	0.0:0.9202:0.0:0.0798	.	406	Q99550	MPP9_HUMAN	F	406	ENSP00000303597:V406F;ENSP00000445859:V406F	ENSP00000303597:V406F	V	-	1	0	MPHOSPH9	122253233	0.913000	0.31002	0.956000	0.39512	0.959000	0.62525	0.427000	0.21379	2.834000	0.97654	0.557000	0.71058	GTC		PASS	0.448	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			26	152	26	152	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133324531	133324531	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:133324531C>T	ENST00000357997.5	-	5	1206	c.1117G>A	c.(1117-1119)Gtc>Atc	p.V373I	ANKLE2_ENST00000337516.5_Missense_Mutation_p.V373I|ANKLE2_ENST00000539605.1_Missense_Mutation_p.V311I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	373					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.V373I(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCTCCAGGACGTCCAGAGTC	0.547																																						uc001ukx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GTC>ATC		ankyrin repeat and LEM domain containing 2							114.0	124.0	120.0					12																	133324531		2183	4273	6456	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133324531C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1117G>A	12.37:g.133324531C>T	ENSP00000350686:p.Val373Ile					ANKLE2_uc001uky.3_Missense_Mutation_p.V311I	p.V373I	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	5	1184	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	373					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1117G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	8.326	0.825345	0.16749	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623;ENST00000546061	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.7	4.48	0.54585	Ankyrin repeat-containing domain (2);	0.191358	0.56097	N	0.000037	T	0.14141	0.0342	N	0.00621	-1.32	0.21290	N	0.999737	B;B	0.26258	0.145;0.04	B;B	0.16722	0.016;0.004	T	0.14504	-1.0470	10	0.39692	T	0.17	-14.0304	10.2965	0.43627	0.0:0.0859:0.0:0.9141	.	373;373	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	I	311;373;373;143;19	ENSP00000446268:V311I;ENSP00000350686:V373I;ENSP00000337651:V373I;ENSP00000438515:V143I;ENSP00000445718:V19I	ENSP00000337651:V373I	V	-	1	0	ANKLE2	131834604	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	4.647000	0.61418	0.882000	0.36016	-0.345000	0.07892	GTC		PASS	0.547	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			25	108	25	108	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20000609	20000609	+	Missense_Mutation	SNP	C	C	G	rs141691551	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:20000609C>G	ENST00000400230.2	-	18	1395	c.1351G>C	c.(1351-1353)Ggt>Cgt	p.G451R	TPTE2_ENST00000390680.2_Missense_Mutation_p.G374R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G411R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G340R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G451R|TPTE2_ENST00000382978.1_Missense_Mutation_p.G411R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G374R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G340R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G451S(1)|p.G374R(1)|p.G374S(1)|p.G451R(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGAGGTGGACCGTCATATACA	0.338																																						uc001umd.2																			4	Substitution - Missense(4)		prostate(2)|lung(2)		0						c.(1351-1353)GGT>CGT		TPTE and PTEN homologous inositol lipid							115.0	115.0	115.0					13																	20000609		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20000609C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1351G>C	13.37:g.20000609C>G	ENSP00000383089:p.Gly451Arg					TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.G340R|TPTE2_uc001ume.2_Missense_Mutation_p.G374R|TPTE2_uc009zzm.2_Missense_Mutation_p.G122R|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.G122R	p.G451R	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	19	1562	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	451			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1351G>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.888	0.347979	0.11126	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	2.06	0.84	0.18912	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174692	0.50627	D	0.000101	D	0.84120	0.5402	L	0.43152	1.355	0.09310	N	1	D;D;D	0.57899	0.965;0.957;0.981	P;P;P	0.61275	0.886;0.736;0.886	T	0.73091	-0.4092	9	.	.	.	-15.6776	4.9604	0.14063	0.6673:0.3327:0.0:0.0	.	340;374;451	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	R	411;340;451;374;374;451;411;340;451	ENSP00000372438:G411R;ENSP00000382974:G340R;ENSP00000383089:G451R;ENSP00000255310:G374R;ENSP00000375098:G374R;ENSP00000372437:G451R;ENSP00000372435:G411R;ENSP00000442218:G340R	.	G	-	1	0	TPTE2	18898609	0.779000	0.28652	0.004000	0.12327	0.004000	0.04260	1.504000	0.35726	0.231000	0.21079	0.194000	0.17425	GGT		PASS	0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		25	119	25	119	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25479961	25479961	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:25479961C>A	ENST00000381884.4	-	7	2400	c.2215G>T	c.(2215-2217)Ggg>Tgg	p.G739W	CENPJ_ENST00000545981.1_Missense_Mutation_p.G739W	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	739					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.G739W(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTAAAAGGCCCCTTATCATCA	0.448																																						uc001upt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2215-2217)GGG>TGG		centromere protein J							133.0	134.0	134.0					13																	25479961		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25479961C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2215G>T	13.37:g.25479961C>A	ENSP00000371308:p.Gly739Trp					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	p.G739W	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2468	-		Lung SC(185;0.0225)|Breast(139;0.0602)	739					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2215G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153563	0.38021	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.38560	1.13;1.71	5.71	3.98	0.46160	.	0.387612	0.25380	N	0.031086	T	0.60222	0.2252	M	0.73598	2.24	0.28713	N	0.903421	D	0.76494	0.999	D	0.74674	0.984	T	0.57323	-0.7831	10	0.66056	D	0.02	.	8.7523	0.34622	0.0:0.7663:0.0:0.2337	.	739	Q9HC77	CENPJ_HUMAN	W	739	ENSP00000371308:G739W;ENSP00000441090:G739W	ENSP00000371308:G739W	G	-	1	0	CENPJ	24377961	0.002000	0.14202	0.840000	0.33206	0.665000	0.39181	0.371000	0.20450	0.759000	0.33084	0.655000	0.94253	GGG		PASS	0.448	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		96	194	96	194	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26144967	26144967	+	Silent	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:26144967T>G	ENST00000381655.2	+	17	1678	c.1536T>G	c.(1534-1536)ccT>ccG	p.P512P	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.P472P	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	472					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P512P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGGTTGTTCCTGAGAAGGATG	0.587																																						uc001uqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1534-1536)CCT>CCG		ATPase, aminophospholipid transporter-like,							89.0	87.0	88.0					13																	26144967		2027	4173	6200	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26144967T>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1536T>G	13.37:g.26144967T>G						ATP8A2_uc010tdi.1_Silent_p.P472P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.P22P|ATP8A2_uc001uql.1_Silent_p.P472P	p.P512P	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	17	1678	+		Breast(139;0.0201)|Lung SC(185;0.0225)	472			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.1536T>G	CCDS41873.1																																																																																				PASS	0.587	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		4	112	4	112	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36049898	36049898	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:36049898G>A	ENST00000379919.4	-	1	934	c.378C>T	c.(376-378)cgC>cgT	p.R126R	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.R126R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACCGGATTTTGCGCGCCGAGA	0.592																																						uc001uvc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(376-378)CGC>CGT		mab-21-like protein 1							44.0	45.0	45.0					13																	36049898		2203	4300	6503	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049898G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.378C>T	13.37:g.36049898G>A						NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.R126R	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	935	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	126					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.378C>T	CCDS9353.1																																																																																				PASS	0.592	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		15	49	15	49	---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46358134	46358134	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:46358134G>A	ENST00000400405.2	-	2	300	c.194C>T	c.(193-195)cCt>cTt	p.P65L		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	65	His-rich.				multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P65L(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GAGATGGTGAGGGTGGAAGCT	0.652																																						uc001vap.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(193-195)CCT>CTT		seven in absentia homolog 3							61.0	71.0	68.0					13																	46358134		2185	4266	6451	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46358134G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.194C>T	13.37:g.46358134G>A	ENSP00000383256:p.Pro65Leu						p.P65L	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	276	-			65			SIAH-type; degenerate.|His-rich.		B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.194C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968219	0.34754	.	.	ENSG00000215475	ENST00000400405	.	.	.	5.3	3.5	0.40072	.	0.709355	0.12282	U	0.482765	T	0.28001	0.0690	N	0.14661	0.345	0.19575	N	0.999966	B	0.16802	0.019	B	0.12156	0.007	T	0.19257	-1.0311	9	0.41790	T	0.15	-0.4311	12.1178	0.53875	0.0:0.0:0.6593:0.3407	.	65	Q8IW03	SIAH3_HUMAN	L	65	.	ENSP00000383256:P65L	P	-	2	0	SIAH3	45256135	0.982000	0.34865	0.027000	0.17364	0.853000	0.48598	2.232000	0.43018	0.538000	0.28769	0.561000	0.74099	CCT		PASS	0.652	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		8	49	8	49	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75915705	75915705	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:75915705G>T	ENST00000377636.3	-	6	1773	c.1427C>A	c.(1426-1428)gCc>gAc	p.A476D	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.A476D|TBC1D4_ENST00000431480.2_Missense_Mutation_p.A476D	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	476					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.A476D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCAGCTTGGCTCTTGGTGG	0.433																																						uc001vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1426-1428)GCC>GAC		TBC1 domain family, member 4							89.0	83.0	85.0					13																	75915705		1956	4167	6123	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75915705G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1427C>A	13.37:g.75915705G>T	ENSP00000366863:p.Ala476Asp					TBC1D4_uc010aer.2_Missense_Mutation_p.A476D|TBC1D4_uc010aes.2_Missense_Mutation_p.A476D	p.A476D	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	6	1774	-		Prostate(6;0.014)|Breast(118;0.0982)	476					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1427C>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870426	0.91587	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03553	3.91;3.9;3.89	5.63	5.63	0.86233	.	0.650998	0.14358	N	0.324640	T	0.18841	0.0452	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.79108	0.965;0.992;0.988	T	0.00049	-1.2200	10	0.72032	D	0.01	-19.5577	20.0455	0.97607	0.0:0.0:1.0:0.0	.	476;476;476	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	D	476	ENSP00000366863:A476D;ENSP00000395986:A476D;ENSP00000366852:A476D	ENSP00000366852:A476D	A	-	2	0	TBC1D4	74813706	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.143000	0.94623	2.810000	0.96702	0.655000	0.94253	GCC		PASS	0.433	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		21	44	21	44	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76407256	76407256	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:76407256A>G	ENST00000321797.8	+	14	3041	c.2320A>G	c.(2320-2322)Ata>Gta	p.I774V	LMO7_ENST00000377534.3_Missense_Mutation_p.I1059V|LMO7_ENST00000341547.4_Missense_Mutation_p.I725V|LMO7_ENST00000465261.2_Missense_Mutation_p.I774V|LMO7_ENST00000526202.1_Missense_Mutation_p.I624V|LMO7_ENST00000357063.3_Missense_Mutation_p.I1059V			Q8WWI1	LMO7_HUMAN	LIM domain 7	1059					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I774V(1)|p.I1059V(1)|p.I725V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGGTTTACAATAAAATGGGA	0.393																																						uc001vjv.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(2320-2322)ATA>GTA		LIM domain only 7 isoform 2							139.0	139.0	139.0					13																	76407256		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76407256A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2320A>G	13.37:g.76407256A>G	ENSP00000317802:p.Ile774Val					LMO7_uc010thv.1_Missense_Mutation_p.I725V|LMO7_uc001vjt.1_Missense_Mutation_p.I673V|LMO7_uc010thw.1_Missense_Mutation_p.I624V|LMO7_uc001vjw.1_Missense_Mutation_p.I680V	p.I774V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	13	3080	+		Breast(118;0.0992)	1059			PDZ.		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.2320A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.502|1.502	-0.551728|-0.551728	0.03996|0.03996	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038	T;T;T;T;T;T;T|.	0.26373|.	1.74;1.74;1.74;1.74;1.74;1.74;1.74|.	5.3|5.3	3.18|3.18	0.36537|0.36537	PDZ/DHR/GLGF (4);|.	0.480369|.	0.22939|.	N|.	0.053805|.	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.10972|0.10972	0.075|0.075	0.25507|0.25507	N|N	0.987494|0.987494	B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.0|.	B;B;B;B;B|.	0.08055|.	0.001;0.001;0.003;0.002;0.002|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.02654|.	T|.	1|.	-9.9235|-9.9235	7.3551|7.3551	0.26714|0.26714	0.5771:0.0:0.4229:0.0|0.5771:0.0:0.4229:0.0	.|.	624;725;1059;774;1007|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	V|S	725;1059;1059;673;774;624;774|682	ENSP00000342112:I725V;ENSP00000349571:I1059V;ENSP00000366757:I1059V;ENSP00000366719:I673V;ENSP00000317802:I774V;ENSP00000431129:I624V;ENSP00000433352:I774V|.	ENSP00000317802:I774V|.	I|N	+|+	1|2	0|0	LMO7|LMO7	75305257|75305257	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.122000|1.122000	0.31295|0.31295	0.438000|0.438000	0.26450|0.26450	-0.417000|-0.417000	0.06048|0.06048	ATA|AAT		PASS	0.393	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		34	45	34	45	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108862550	108862550	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr13:108862550T>A	ENST00000356922.4	-	2	1339	c.1067A>T	c.(1066-1068)gAg>gTg	p.E356V	LIG4_ENST00000442234.1_Missense_Mutation_p.E356V|LIG4_ENST00000405925.1_Missense_Mutation_p.E356V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	356					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.E356V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCAGAATCCTCTACCATTCT	0.328								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GAG>GTG	NHEJ	DNA ligase IV							65.0	67.0	66.0					13																	108862550		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862550T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1067A>T	13.37:g.108862550T>A	ENSP00000349393:p.Glu356Val					LIG4_uc001vqo.2_Missense_Mutation_p.E356V|LIG4_uc010agg.1_Missense_Mutation_p.E289V|LIG4_uc010agf.2_Missense_Mutation_p.E356V|LIG4_uc001vqp.2_Missense_Mutation_p.E356V	p.E356V	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1340	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		356					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1067A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948747	0.53186	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.82526	-1.62;-1.62;-1.62	5.53	5.53	0.82687	DNA ligase, ATP-dependent, central (2);	0.161807	0.53938	D	0.000045	D	0.83408	0.5248	L	0.48174	1.505	0.48185	D	0.9996	P	0.37276	0.589	P	0.45610	0.487	D	0.84164	0.0430	10	0.54805	T	0.06	.	14.8361	0.70183	0.0:0.0:0.0:1.0	.	356	P49917	DNLI4_HUMAN	V	356	ENSP00000385955:E356V;ENSP00000402030:E356V;ENSP00000349393:E356V	ENSP00000349393:E356V	E	-	2	0	LIG4	107660551	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	6.125000	0.71627	2.102000	0.63906	0.523000	0.50628	GAG		PASS	0.328	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		30	148	30	148	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884917	23884917	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:23884917T>C	ENST00000355349.3	-	35	5240	c.5078A>G	c.(5077-5079)gAg>gGg	p.E1693G	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1693					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1693G(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCTGTCTGCTCCACCACGGC	0.632																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5077-5079)GAG>GGG		myosin, heavy chain 7, cardiac muscle, beta							71.0	64.0	67.0					14																	23884917		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884917T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5078A>G	14.37:g.23884917T>C	ENSP00000347507:p.Glu1693Gly						p.E1693G	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5184	-	all_cancers(95;2.54e-05)		1693			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5078A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632295	0.87660	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80824	-1.42	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.92133	0.7506	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94084	0.7347	9	0.87932	D	0	.	15.4222	0.75022	0.0:0.0:0.0:1.0	.	1693	P12883	MYH7_HUMAN	G	1693;1698	ENSP00000347507:E1693G	ENSP00000347507:E1693G	E	-	2	0	MYH7	22954757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.275000	0.78548	2.234000	0.73211	0.459000	0.35465	GAG		PASS	0.632	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		16	72	16	72	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360908	42360908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:42360908C>A	ENST00000298119.4	+	4	3030	c.1841C>A	c.(1840-1842)tCa>tAa	p.S614*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	614						integral component of membrane (GO:0016021)		p.S614*(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)		ATTCAATCTTCAGAAACTTGT	0.478										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1840-1842)TCA>TAA		leucine rich repeat and fibronectin type III							140.0	112.0	122.0					14																	42360908		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42360908C>A	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.1841C>A	14.37:g.42360908C>A	ENSP00000298119:p.Ser614*	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.S614*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3039	+			614			Cytoplasmic (Potential).		B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.1841C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	48	14.568769	0.99801	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.9	5.9	0.94986	.	0.294191	0.24592	N	0.037204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	.	.	.	X	614	.	ENSP00000298119:S614X	S	+	2	0	LRFN5	41430658	0.991000	0.36638	0.992000	0.48379	0.957000	0.61999	7.012000	0.76366	2.808000	0.96608	0.650000	0.86243	TCA		PASS	0.478	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		19	53	19	53	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47426643	47426643	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:47426643A>C	ENST00000399232.2	-	9	2180	c.1816T>G	c.(1816-1818)Tat>Gat	p.Y606D	MDGA2_ENST00000439988.3_Missense_Mutation_p.Y675D|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000426342.1_Missense_Mutation_p.Y377D|MDGA2_ENST00000357362.3_Missense_Mutation_p.Y377D	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	606	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Y377D(2)|p.Y675D(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACCCCATAGTTTTCATTG	0.398																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1816-1818)TAT>GAT		MAM domain containing 1 isoform 1							83.0	84.0	84.0					14																	47426643		1870	4108	5978	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426643A>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1816T>G	14.37:g.47426643A>C	ENSP00000382178:p.Tyr606Asp					MDGA2_uc001wwi.3_Missense_Mutation_p.Y377D|MDGA2_uc010ani.2_Missense_Mutation_p.Y166D	p.Y606D	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			9	2012	-			606			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1816T>G		.	.	.	.	.	.	.	.	.	.	A	17.15	3.316389	0.60524	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.3	5.3	0.74995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000232	T	0.15176	0.0366	L	0.51422	1.61	0.80722	D	1	P;P	0.37688	0.551;0.605	B;B	0.36030	0.185;0.216	T	0.02288	-1.1182	10	0.41790	T	0.15	.	14.0724	0.64868	1.0:0.0:0.0:0.0	.	377;606	F6W3S7;Q7Z553	.;MDGA2_HUMAN	D	606;377;675;377	ENSP00000400011:Y606D;ENSP00000405456:Y377D;ENSP00000382178:Y675D;ENSP00000349925:Y377D	ENSP00000349925:Y377D	Y	-	1	0	MDGA2	46496393	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.619000	0.67729	2.015000	0.59207	0.528000	0.53228	TAT		PASS	0.398	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		17	88	17	88	---	---	---	---
C14orf183	196913	broad.mit.edu	37	14	50559321	50559321	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:50559321C>T	ENST00000305273.1	-	1	40	c.41G>A	c.(40-42)aGa>aAa	p.R14K		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	14								p.R14K(1)		endometrium(2)|large_intestine(2)|lung(3)	7						ACGTTTGGCTCTGACATCCAT	0.453																																						uc010tqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)AGA>AAA		hypothetical protein LOC196913							173.0	162.0	165.0					14																	50559321		1954	4147	6101	SO:0001583	missense	196913							g.chr14:50559321C>T	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.41G>A	14.37:g.50559321C>T	ENSP00000303234:p.Arg14Lys						p.R14K	NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN			1	41	-			14						Missense_Mutation	SNP	ENST00000305273.1	37	c.41G>A	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727929	0.15507	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.16	-0.892	0.10570	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.32573	0.376	B	0.31614	0.133	T	0.18587	-1.0332	8	0.87932	D	0	.	6.2364	0.20766	0.0:0.4901:0.0:0.5099	.	14	Q8WXQ3	CN183_HUMAN	K	14	.	ENSP00000303234:R14K	R	-	2	0	C14orf183	49629071	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.065000	0.11617	-0.200000	0.10300	0.555000	0.69702	AGA		PASS	0.453	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830		26	68	26	68	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50799106	50799106	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:50799106C>T	ENST00000395834.1	-	8	870	c.843G>A	c.(841-843)caG>caA	p.Q281Q	CDKL1_ENST00000216378.2_3'UTR|ATP5S_ENST00000358473.1_Intron	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.Q281Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GATGCAACAGCTGTTCACATG	0.383																																						uc001wxz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|stomach(1)	2						c.(841-843)CAG>CAA		cyclin-dependent kinase-like 1							173.0	164.0	167.0					14																	50799106		2203	4300	6503	SO:0001819	synonymous_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50799106C>T	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.843G>A	14.37:g.50799106C>T						ATP5S_uc010ant.1_Intron	p.Q281Q	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			8	871	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		280			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000395834.1	37	c.843G>A	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	6.958	0.546590	0.13312	.	.	ENSG00000100490	ENST00000534267	.	.	.	6.06	5.17	0.71159	.	.	.	.	.	T	0.71358	0.3330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68812	-0.5310	4	.	.	.	.	15.4476	0.75243	0.0:0.932:0.0:0.068	.	.	.	.	T	95	.	.	A	-	1	0	CDKL1	49868856	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.683000	0.46943	2.871000	0.98454	0.655000	0.94253	GCT		PASS	0.383	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2			40	134	40	134	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58605813	58605813	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:58605813T>A	ENST00000267485.7	-	2	458	c.264A>T	c.(262-264)aaA>aaT	p.K88N	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	88						integral component of membrane (GO:0016021)		p.K88N(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCGAGAATGCTTTATTTAATG	0.473																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)AAA>AAT		hypothetical protein LOC145407 precursor							140.0	139.0	139.0					14																	58605813		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605813T>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.264A>T	14.37:g.58605813T>A	ENSP00000267485:p.Lys88Asn					C14orf37_uc010tro.1_Missense_Mutation_p.K126N|C14orf37_uc001xdd.2_Missense_Mutation_p.K88N|C14orf37_uc001xde.2_Missense_Mutation_p.K88N	p.K88N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	375	-			88			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.264A>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330809	0.60853	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34667	1.35	5.82	0.106	0.14540	.	0.946586	0.08917	N	0.875017	T	0.27697	0.0681	M	0.62723	1.935	0.09310	N	1	B;P;B;B	0.39022	0.186;0.655;0.186;0.186	B;B;B;B	0.34242	0.063;0.178;0.063;0.063	T	0.20538	-1.0272	10	0.25751	T	0.34	-3.1024	3.3218	0.07053	0.2831:0.1985:0.0:0.5184	.	126;88;88;88	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	N	88;126	ENSP00000267485:K88N	ENSP00000267485:K88N	K	-	3	2	C14orf37	57675566	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.001000	0.12947	0.455000	0.26910	0.533000	0.62120	AAA		PASS	0.473	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		35	108	35	108	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65266561	65266561	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:65266561G>T	ENST00000389721.5	-	8	1000	c.968C>A	c.(967-969)aCt>aAt	p.T323N	SPTB_ENST00000542895.1_Missense_Mutation_p.T323N|SPTB_ENST00000389720.3_Missense_Mutation_p.T323N|SPTB_ENST00000556626.1_Missense_Mutation_p.T323N|SPTB_ENST00000389722.3_Missense_Mutation_p.T323N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	323					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.T323N(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)		GTTCAGGACAGTGATGGTCTG	0.557											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xht.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(967-969)ACT>AAT		spectrin beta isoform b							119.0	104.0	109.0					14																	65266561		2203	4300	6503	SO:0001583	missense	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.chr14:65266561G>T		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.968C>A	14.37:g.65266561G>T	ENSP00000374371:p.Thr323Asn		OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_uc001xhr.2_Missense_Mutation_p.T323N|SPTB_uc001xhs.2_Missense_Mutation_p.T323N|SPTB_uc001xhu.2_Missense_Mutation_p.T323N	p.T323N	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)	8	1022	-		all_lung(585;4.15e-09)	323			Spectrin 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.968C>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	7.397	0.631957	0.14322	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.17	0.189	0.15119	.	0.752485	0.13298	N	0.398431	T	0.23014	0.0556	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.005	T	0.16364	-1.0405	10	0.19590	T	0.45	.	1.2	0.01883	0.3226:0.1475:0.3877:0.1422	.	323;327	P11277;Q59FP5	SPTB1_HUMAN;.	N	327;323;323;323;323;323	ENSP00000374372:T323N;ENSP00000451752:T323N;ENSP00000374371:T323N;ENSP00000443882:T323N;ENSP00000374370:T323N	ENSP00000374370:T323N	T	-	2	0	SPTB	64336314	0.000000	0.05858	0.041000	0.18516	0.908000	0.53690	0.280000	0.18790	-0.300000	0.08895	0.563000	0.77884	ACT		PASS	0.557	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			23	86	23	86	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92959967	92959967	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:92959967G>C	ENST00000532405.1	+	17	2090	c.1864G>C	c.(1864-1866)Gat>Cat	p.D622H	SLC24A4_ENST00000351924.5_Missense_Mutation_p.D586H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D558H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D603H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D605H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	622					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D605H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCGGGAAGACGATTAGCGCTG	0.547																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1813-1815)GAT>CAT		solute carrier family 24 member 4 isoform 1							127.0	104.0	112.0					14																	92959967		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92959967G>C	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1864G>C	14.37:g.92959967G>C	ENSP00000431840:p.Asp622His					SLC24A4_uc001yai.2_Missense_Mutation_p.D558H|SLC24A4_uc010twm.1_Missense_Mutation_p.D603H|SLC24A4_uc001yaj.2_Missense_Mutation_p.D586H|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.D378H|SLC24A4_uc001yan.2_Missense_Mutation_p.D316H	p.D605H	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	17	1837	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	622			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1813G>C	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390879	0.42410	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.71222	-0.48;-0.12;-0.08;-0.49;-0.55	5.51	5.51	0.81932	.	0.355002	0.26680	N	0.023048	T	0.67785	0.2930	N	0.08118	0	0.26235	N	0.978955	D;P	0.89917	1.0;0.941	D;B	0.70487	0.969;0.435	T	0.63479	-0.6628	10	0.87932	D	0	.	11.0373	0.47808	0.0:0.1466:0.7192:0.1341	.	603;622	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	H	558;603;622;605;586	ENSP00000376948:D558H;ENSP00000433302:D603H;ENSP00000431840:D622H;ENSP00000298877:D605H;ENSP00000337789:D586H	ENSP00000298877:D605H	D	+	1	0	SLC24A4	92029720	0.665000	0.27466	0.921000	0.36526	0.289000	0.27227	0.894000	0.28350	2.582000	0.87167	0.655000	0.94253	GAT		PASS	0.547	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		15	31	15	31	---	---	---	---
DLK1	8788	broad.mit.edu	37	14	101201173	101201174	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:101201173_101201174CT>AG	ENST00000341267.4	+	5	1334_1335	c.1092_1093CT>AG	c.(1090-1095)atCTtc>atAGtc	p.F365V	RP11-566J3.4_ENST00000608876.1_lincRNA|DLK1_ENST00000331224.6_Missense_Mutation_p.F292V	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	365					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.F365V(2)|p.I364I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCAACATCATCTTCCCCGAGAA	0.574																																						uc001yhs.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|breast(1)|skin(1)	4						c.(1090-1092)ATC>ATA|c.(1093-1095)TTC>GTC		delta-like 1 homolog precursor																																				SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101201173C>A|g.chr14:101201174T>G	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		Exception_encountered	14.37:g.101201173_101201174delinsAG	ENSP00000340292:p.Phe365Val					DLK1_uc001yhu.3_Silent_p.I291I|DLK1_uc001yhu.3_Missense_Mutation_p.F292V	p.I364I|p.F365V	NM_003836	NP_003827	P80370	DLK1_HUMAN			5	1245|1246	+		Melanoma(154;0.155)	364|365			Cytoplasmic (Potential).		P15803|Q96DW5	Silent|Missense_Mutation	SNP	ENST00000341267.4	37	c.1092C>A|c.1093T>G	CCDS9963.1																																																																																				PASS	0.574	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			52	169|171	52	169	---	---	---	---
BAG5	9529	broad.mit.edu	37	14	104027168	104027168	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:104027168A>C	ENST00000445922.2	-	2	580	c.334T>G	c.(334-336)Ttt>Gtt	p.F112V	RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000299204.4_Missense_Mutation_p.F112V|BAG5_ENST00000337322.4_Missense_Mutation_p.F153V|APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	112	BAG 2. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.F112V(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCATTATAAAATGGCACAATT	0.423																																					NSCLC(171;1832 2055 18950 31566 41632)	uc001yni.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(334-336)TTT>GTT		BCL2-associated athanogene 5 isoform b							127.0	127.0	127.0					14																	104027168		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104027168A>C	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.334T>G	14.37:g.104027168A>C	ENSP00000391713:p.Phe112Val					KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.F153V|BAG5_uc001ynj.1_Missense_Mutation_p.F112V|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	p.F112V	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	568	-		Melanoma(154;0.155)	112			BAG 2.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.334T>G	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786131	0.31593	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	T;T;T;T	0.80824	-1.4;-1.4;-1.42;-1.41	5.76	3.0	0.34707	.	0.193711	0.45867	D	0.000325	T	0.67401	0.2889	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.59899	-0.7367	10	0.54805	T	0.06	-30.0057	9.0788	0.36538	0.799:0.127:0.074:0.0	.	112;153	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	V	112;112;153;112	ENSP00000299204:F112V;ENSP00000391713:F112V;ENSP00000338814:F153V;ENSP00000450497:F112V	ENSP00000299204:F112V	F	-	1	0	BAG5	103096921	0.999000	0.42202	0.021000	0.16686	0.963000	0.63663	4.070000	0.57548	0.965000	0.38133	0.533000	0.62120	TTT		PASS	0.423	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			41	175	41	175	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411766	105411766	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:105411766T>A	ENST00000333244.5	-	7	10141	c.10022A>T	c.(10021-10023)gAc>gTc	p.D3341V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3341						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3341V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCTCACGTCGGCCTCCGC	0.622																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10021-10023)GAC>GTC		AHNAK nucleoprotein 2							139.0	143.0	142.0					14																	105411766		1987	4160	6147	SO:0001583	missense	113146					nucleus		g.chr14:105411766T>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10022A>T	14.37:g.105411766T>A	ENSP00000353114:p.Asp3341Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.D3241V	p.D3341V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10142	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3341					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10022A>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	15.44	2.833305	0.50951	.	.	ENSG00000185567	ENST00000333244	T	0.02216	4.39	4.54	3.38	0.38709	.	.	.	.	.	T	0.11495	0.0280	M	0.91561	3.22	0.34726	D	0.729262	D	0.57571	0.98	P	0.56343	0.796	T	0.11470	-1.0586	9	0.66056	D	0.02	.	9.8632	0.41127	0.0:0.0822:0.0:0.9178	.	3341	Q8IVF2	AHNK2_HUMAN	V	3341	ENSP00000353114:D3341V	ENSP00000353114:D3341V	D	-	2	0	AHNAK2	104482811	0.039000	0.19947	0.005000	0.12908	0.008000	0.06430	0.486000	0.22340	0.599000	0.29845	0.402000	0.26972	GAC		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		57	219	57	219	---	---	---	---
IGHV1-58	28464	broad.mit.edu	37	14	107078598	107078598	+	RNA	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:107078598C>A	ENST00000390628.2	-	0	186									immunoglobulin heavy variable 1-58																		ATCCAGAAGCCTTGCAGGAGA	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							88.0	87.0	87.0					14																	107078598		1973	4163	6136			8755							g.chr14:107078598C>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078598C>A														117		-									RNA	SNP	ENST00000390628.2	37	c.5692G>T																																																																																					PASS	0.562	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		6	97	6	97	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27222257	27222257	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr15:27222257G>C	ENST00000333743.6	+	2	416	c.162G>C	c.(160-162)ttG>ttC	p.L54F	GABRG3_ENST00000555083.1_Missense_Mutation_p.L54F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	54					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L54F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAACAAGTTGCTAAGAGAAT	0.358																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)TTG>TTC		gamma-aminobutyric acid (GABA) A receptor, gamma							99.0	99.0	99.0					15																	27222257		1826	4080	5906	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27222257G>C		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.162G>C	15.37:g.27222257G>C	ENSP00000331912:p.Leu54Phe					GABRG3_uc001zbf.2_Missense_Mutation_p.L54F	p.L54F	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	2	328	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	54			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.162G>C	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466137	0.63625	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	D;D	0.86230	-2.09;-2.09	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000018	D	0.92980	0.7766	M	0.78049	2.395	0.50632	D	0.999885	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.93492	0.6836	10	0.87932	D	0	.	14.1364	0.65291	0.0:0.2671:0.7329:0.0	.	54;54	Q99928;G3V594	GBRG3_HUMAN;.	F	54	ENSP00000331912:L54F;ENSP00000452244:L54F	ENSP00000331912:L54F	L	+	3	2	GABRG3	24805003	1.000000	0.71417	0.873000	0.34254	0.982000	0.71751	1.993000	0.40747	2.618000	0.88619	0.557000	0.71058	TTG		PASS	0.358	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			57	56	57	56	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28391416	28391416	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr15:28391416C>T	ENST00000261609.7	-	71	11083	c.10975G>A	c.(10975-10977)Gac>Aac	p.D3659N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.D3659N(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)		TTGACGCCGTCCATGACTGTG	0.562																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10975-10977)GAC>AAC		hect domain and RLD 2							155.0	111.0	126.0					15																	28391416		2203	4300	6503	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.chr15:28391416C>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.10975G>A	15.37:g.28391416C>T	ENSP00000261609:p.Asp3659Asn						p.D3659N	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)	71	11081	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3659						Missense_Mutation	SNP	ENST00000261609.7	37	c.10975G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.830571	0.96996	.	.	ENSG00000128731	ENST00000261609	T	0.44881	0.91	5.35	5.35	0.76521	.	0.106857	0.64402	D	0.000010	T	0.70272	0.3205	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75510	-0.3292	10	0.87932	D	0	.	19.1305	0.93404	0.0:1.0:0.0:0.0	.	3659	O95714	HERC2_HUMAN	N	3659	ENSP00000261609:D3659N	ENSP00000261609:D3659N	D	-	1	0	HERC2	26065011	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.818000	0.86416	2.532000	0.85374	0.551000	0.68910	GAC		PASS	0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		45	45	45	45	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89400853	89400853	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr15:89400853A>T	ENST00000561243.1	+	11	5037	c.5037A>T	c.(5035-5037)gaA>gaT	p.E1679D	ACAN_ENST00000439576.2_Missense_Mutation_p.E1679D|ACAN_ENST00000559004.1_Missense_Mutation_p.E1679D|ACAN_ENST00000352105.7_Missense_Mutation_p.E1679D			P16112	PGCA_HUMAN	aggrecan	1733	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.E1565D(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAACTGGAAGGGAGGGGAA	0.517																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5035-5037)GAA>GAT		aggrecan isoform 2 precursor							151.0	151.0	151.0					15																	89400853		1981	4157	6138	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400853A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5037A>T	15.37:g.89400853A>T	ENSP00000453342:p.Glu1679Asp					ACAN_uc010upp.1_Missense_Mutation_p.E1679D|ACAN_uc002bna.2_RNA	p.E1679D	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5411	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1679					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5037A>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166530	0.38217	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03301	4.24;3.98	5.86	2.36	0.29203	.	0.000000	0.33610	N	0.004732	T	0.11495	0.0280	M	0.72118	2.19	0.19300	N	0.999975	D;D	0.71674	0.998;0.996	D;D	0.79108	0.992;0.989	T	0.14337	-1.0476	10	0.15499	T	0.54	-23.577	7.783	0.29077	0.6853:0.0:0.3147:0.0	.	1679;1679	E7ENV9;E7EX88	.;.	D	1679;1679;1565	ENSP00000387356:E1679D;ENSP00000341615:E1679D	ENSP00000268134:E1565D	E	+	3	2	ACAN	87201857	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.347000	0.33975	0.488000	0.27723	0.533000	0.62120	GAA		PASS	0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	212	7	212	---	---	---	---
OR4F15	390649	broad.mit.edu	37	15	102358988	102358988	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr15:102358988C>G	ENST00000332238.4	+	1	623	c.599C>G	c.(598-600)aCt>aGt	p.T200S		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T200S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTCATGGTCACTGTCAATAGT	0.438																																						uc010uts.1																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)ACT>AGT		olfactory receptor, family 4, subfamily F,							239.0	219.0	226.0					15																	102358988		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358988C>G	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.599C>G	15.37:g.102358988C>G	ENSP00000333184:p.Thr200Ser						p.T200S	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	599	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		200			Helical; Name=5; (Potential).		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.599C>G	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	11.24	1.579045	0.28180	.	.	ENSG00000182854	ENST00000332238	T	0.00145	8.67	5.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.094387	0.46758	D	0.000268	T	0.00109	0.0003	N	0.25094	0.71	0.24593	N	0.993814	B	0.18013	0.025	B	0.24394	0.053	T	0.03619	-1.1019	9	.	.	.	.	9.6214	0.39723	0.0:0.8165:0.0:0.1835	.	200	Q8NGB8	O4F15_HUMAN	S	200	ENSP00000333184:T200S	.	T	+	2	0	OR4F15	100176511	0.000000	0.05858	0.669000	0.29828	0.995000	0.86356	0.131000	0.15870	0.786000	0.33708	0.650000	0.86243	ACT		PASS	0.438	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		5	263	5	263	---	---	---	---
CCNF	899	broad.mit.edu	37	16	2503520	2503520	+	Missense_Mutation	SNP	C	C	T	rs142982582		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:2503520C>T	ENST00000397066.4	+	15	1785	c.1697C>T	c.(1696-1698)tCg>tTg	p.S566L	RP11-715J22.3_ENST00000561653.1_RNA|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	566					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.S566L(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AGCTCTCCCTCGGGGCGGAGA	0.602																																						uc002cqd.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|kidney(1)	2						c.(1696-1698)TCG>TTG		cyclin F		C	LEU/SER	2,4394	4.2+/-10.8	0,2,2196	90.0	82.0	85.0		1697	4.0	0.4	16	dbSNP_134	85	0,8600		0,0,4300	no	missense	CCNF	NM_001761.2	145	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	566/787	2503520	2,12994	2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2503520C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1697C>T	16.37:g.2503520C>T	ENSP00000380256:p.Ser566Leu					CCNF_uc002cqe.1_Missense_Mutation_p.S258L	p.S566L	NM_001761	NP_001752	P41002	CCNF_HUMAN			15	1785	+		Ovarian(90;0.17)	566					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1697C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713390	0.48517	4.55E-4	0.0	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.30182	1.54	4.92	3.97	0.46021	.	0.161042	0.56097	N	0.000027	T	0.37433	0.1003	L	0.58101	1.795	0.53005	D	0.999961	D	0.64830	0.994	P	0.48840	0.592	T	0.30179	-0.9987	10	0.87932	D	0	-15.5818	11.9742	0.53081	0.0:0.9141:0.0:0.0859	.	566	P41002	CCNF_HUMAN	L	566;481	ENSP00000380256:S566L	ENSP00000293968:S481L	S	+	2	0	CCNF	2443521	1.000000	0.71417	0.449000	0.26957	0.252000	0.25951	6.135000	0.71696	1.069000	0.40788	-0.391000	0.06502	TCG		PASS	0.602	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		23	66	23	66	---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063428	3063428	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:3063428T>C	ENST00000445369.2	+	1	972	c.65T>C	c.(64-66)cTg>cCg	p.L22P		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	22					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L22P(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTGGGGACCCTGGTGTCCTGC	0.667																																						uc010uwo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CTG>CCG		claudin 9							95.0	80.0	85.0					16																	3063428		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063428T>C	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.65T>C	16.37:g.3063428T>C	ENSP00000398017:p.Leu22Pro						p.L22P	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	972	+			22			Helical; (Potential).			Missense_Mutation	SNP	ENST00000445369.2	37	c.65T>C	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101022	0.76983	.	.	ENSG00000213937	ENST00000445369	D	0.93488	-3.23	4.79	4.79	0.61399	.	0.172969	0.38605	N	0.001639	D	0.96346	0.8808	M	0.86178	2.8	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	D	0.96773	0.9570	10	0.87932	D	0	.	12.3183	0.54971	0.0:0.0:0.0:1.0	.	22	O95484	CLD9_HUMAN	P	22	ENSP00000398017:L22P	ENSP00000398017:L22P	L	+	2	0	CLDN9	3003429	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.833000	0.86765	2.011000	0.59026	0.482000	0.46254	CTG		PASS	0.667	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		20	24	20	24	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8988925	8988925	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:8988925C>T	ENST00000344836.4	-	28	3200	c.3002G>A	c.(3001-3003)gGa>gAa	p.G1001E	USP7_ENST00000535863.1_Missense_Mutation_p.G902E|USP7_ENST00000381886.4_Missense_Mutation_p.G985E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1001					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G1001E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCGAACGTTCCGAAGACCTC	0.522																																						uc002czl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3001-3003)GGA>GAA		ubiquitin specific peptidase 7							251.0	231.0	238.0					16																	8988925		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988925C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3002G>A	16.37:g.8988925C>T	ENSP00000343535:p.Gly1001Glu					USP7_uc010uyk.1_Missense_Mutation_p.G902E|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.G902E|USP7_uc002czk.2_Missense_Mutation_p.G985E	p.G1001E	NM_003470	NP_003461	Q93009	UBP7_HUMAN			28	3201	-			1001					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.3002G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340616	0.60963	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.05925	3.37;3.38	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.04679	0.0127	N	0.25647	0.755	0.80722	D	1	P;B	0.35844	0.524;0.324	B;B	0.26864	0.074;0.051	T	0.27297	-1.0078	10	0.05525	T	0.97	.	19.4254	0.94740	0.0:1.0:0.0:0.0	.	1001;985	Q93009;B7Z815	UBP7_HUMAN;.	E	1001;1009;902	ENSP00000343535:G1001E;ENSP00000443646:G902E	ENSP00000343535:G1001E	G	-	2	0	USP7	8896426	1.000000	0.71417	0.944000	0.38274	0.901000	0.52897	7.700000	0.84556	2.598000	0.87819	0.484000	0.47621	GGA		PASS	0.522	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			89	181	89	181	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20494469	20494469	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:20494469A>G	ENST00000573854.1	+	13	1713	c.1599A>G	c.(1597-1599)tcA>tcG	p.S533S	ACSM2A_ENST00000536134.1_Silent_p.S305S|ACSM2A_ENST00000219054.6_Silent_p.S533S|ACSM2A_ENST00000575690.1_Silent_p.S533S|ACSM2A_ENST00000417235.2_Silent_p.S454S|ACSM2A_ENST00000396104.2_Silent_p.S533S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	533					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.S533S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGTGAAGTCAGTGACAGCCC	0.473																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1597-1599)TCA>TCG		acyl-CoA synthetase medium-chain family member							138.0	127.0	131.0					16																	20494469		2203	4297	6500	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494469A>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1599A>G	16.37:g.20494469A>G						ACSM2A_uc002dhf.3_Silent_p.S533S|ACSM2A_uc002dhg.3_Silent_p.S533S|ACSM2A_uc010vay.1_Silent_p.S454S|ACSM2A_uc002dhh.3_Silent_p.S163S	p.S533S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1838	+			533					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1599A>G	CCDS32401.1																																																																																				PASS	0.473	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		76	71	76	71	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25228740	25228740	+	Silent	SNP	C	C	A	rs532404391		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:25228740C>A	ENST00000219660.5	+	2	359	c.234C>A	c.(232-234)ctC>ctA	p.L78L	AQP8_ENST00000566125.1_Silent_p.L72L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	78					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.L78L(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTTTGGGGCTCGTGATTGCCA	0.597																																						uc002doc.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(232-234)CTC>CTA		aquaporin 8							88.0	96.0	93.0					16																	25228740		2197	4299	6496	SO:0001819	synonymous_variant	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25228740C>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.234C>A	16.37:g.25228740C>A							p.L78L	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	2	316	+			78			Extracellular (Potential).		Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	c.234C>A	CCDS10626.1																																																																																				PASS	0.597	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		82	62	82	62	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58585606	58585606	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:58585606C>A	ENST00000317147.5	-	23	3420	c.3088G>T	c.(3088-3090)Gct>Tct	p.A1030S	CNOT1_ENST00000569240.1_Missense_Mutation_p.A1025S|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.A1030S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1030					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.A1030S(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCAAGAGGAGCTTTTGCTGGA	0.512																																						uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3088-3090)GCT>TCT		CCR4-NOT transcription complex, subunit 1							149.0	141.0	144.0					16																	58585606		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58585606C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3088G>T	16.37:g.58585606C>A	ENSP00000320949:p.Ala1030Ser					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A1025S|CNOT1_uc002enx.2_Missense_Mutation_p.A1030S|CNOT1_uc002enz.1_Missense_Mutation_p.A459S|CNOT1_uc010vik.1_Missense_Mutation_p.A26S	p.A1030S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	23	3381	-			1030					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3088G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441999	0.43326	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.46063	0.9;0.88	5.41	4.44	0.53790	.	0.053235	0.85682	D	0.000000	T	0.19967	0.0480	N	0.02802	-0.49	0.80722	D	1	P;B;B	0.40731	0.728;0.146;0.037	B;B;B	0.40199	0.322;0.038;0.017	T	0.07558	-1.0766	10	0.09338	T	0.73	.	14.4451	0.67345	0.0:0.8529:0.1471:0.0	.	1030;1030;1025	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	1030;459;1025;1030	ENSP00000320949:A1030S;ENSP00000413113:A1030S	ENSP00000320949:A1030S	A	-	1	0	CNOT1	57143107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.502000	0.53332	1.262000	0.44165	0.563000	0.77884	GCT		PASS	0.512	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		4	189	4	189	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68025838	68025838	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:68025838C>T	ENST00000572888.1	-	4	1215	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	DPEP2_ENST00000393847.1_Missense_Mutation_p.G189S|DPEP2_ENST00000412757.2_Missense_Mutation_p.G189S			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	189					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.G189S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GAGTGGCCACCCTCTACACCG	0.557																																						uc010cey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(565-567)GGT>AGT		dipeptidase 2 precursor							116.0	98.0	104.0					16																	68025838		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68025838C>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.565G>A	16.37:g.68025838C>T	ENSP00000458977:p.Gly189Ser					DPEP2_uc002evd.3_Missense_Mutation_p.G189S|DPEP2_uc002eve.2_Missense_Mutation_p.G189S|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_3'UTR	p.G189S	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	4	729	-		Ovarian(137;0.192)	189					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.565G>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312344	0.95655	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.37235	1.21;1.21	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.91920	3.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79108	0.992;0.987	T	0.74825	-0.3533	10	0.54805	T	0.06	-15.2932	17.0878	0.86615	0.0:1.0:0.0:0.0	.	189;102	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	S	189;189;102	ENSP00000377430:G189S;ENSP00000412549:G189S	ENSP00000314702:G102S	G	-	1	0	DPEP2	66583339	1.000000	0.71417	0.978000	0.43139	0.839000	0.47603	7.390000	0.79816	2.654000	0.90174	0.561000	0.74099	GGT		PASS	0.557	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		28	29	28	29	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263572	75263572	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:75263572T>A	ENST00000162330.5	-	7	2576	c.2450A>T	c.(2449-2451)aAc>aTc	p.N817I	BCAR1_ENST00000538440.2_Missense_Mutation_p.N817I|BCAR1_ENST00000418647.3_Missense_Mutation_p.N863I|BCAR1_ENST00000546196.1_Missense_Mutation_p.N788I|BCAR1_ENST00000535626.2_Missense_Mutation_p.N669I|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.N835I|BCAR1_ENST00000542031.2_Missense_Mutation_p.N815I|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Missense_Mutation_p.N835I|BCAR1_ENST00000393420.6_Missense_Mutation_p.N835I	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	817					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.N863I(1)|p.N835I(1)|p.N817I(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCACAGCAGGTTGCTGTAGTG	0.652																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2449-2451)AAC>ATC		breast cancer anti-estrogen resistance 1							61.0	45.0	50.0					16																	75263572		2197	4300	6497	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263572T>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2450A>T	16.37:g.75263572T>A	ENSP00000162330:p.Asn817Ile					BCAR1_uc002fdt.2_Missense_Mutation_p.N270I|BCAR1_uc002fdu.2_Missense_Mutation_p.N607I|BCAR1_uc010cgu.2_Missense_Mutation_p.N806I|BCAR1_uc010vna.1_Missense_Mutation_p.N815I|BCAR1_uc010vnb.1_Missense_Mutation_p.N863I|BCAR1_uc002fdw.2_Missense_Mutation_p.N817I|BCAR1_uc010vnc.1_Missense_Mutation_p.N669I|BCAR1_uc010vnd.1_Missense_Mutation_p.N835I|BCAR1_uc002fdx.2_Missense_Mutation_p.N835I	p.N817I	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2573	-			817					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2450A>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579594	0.86645	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.04	5.04	0.67666	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.996;0.994;0.994;0.996;0.998;0.996;0.999	T	0.57705	-0.7765	10	0.87932	D	0	-54.4159	13.9132	0.63881	0.0:0.0:0.0:1.0	.	835;669;863;815;835;835;817;817;607	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	I	817;835;835;817;863;669;835;815;788	ENSP00000162330:N817I;ENSP00000377074:N835I;ENSP00000392708:N835I;ENSP00000443841:N817I;ENSP00000391669:N863I;ENSP00000440370:N669I;ENSP00000377072:N835I;ENSP00000440415:N815I;ENSP00000442161:N788I	ENSP00000162330:N817I	N	-	2	0	BCAR1	73821073	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.639000	0.83342	2.017000	0.59298	0.383000	0.25322	AAC		PASS	0.652	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		12	24	12	24	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998786	83998786	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:83998786G>T	ENST00000343939.2	+	7	1240	c.857G>T	c.(856-858)tGg>tTg	p.W286L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.W203L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.W203L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	286					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.W286L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GCCGTGGAGTGGGGGACCCCC	0.647																																						uc002fha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)TGG>TTG		oxidative stress induced growth inhibitor 1							79.0	87.0	85.0					16																	83998786		2200	4300	6500	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998786G>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.857G>T	16.37:g.83998786G>T	ENSP00000343376:p.Trp286Leu					OSGIN1_uc002fhb.2_Missense_Mutation_p.W203L|OSGIN1_uc002fhc.2_Missense_Mutation_p.W203L	p.W286L	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1240	+			286					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.857G>T		.	.	.	.	.	.	.	.	.	.	G	0.797	-0.756951	0.03019	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.21031	2.03;2.03;2.03	4.8	1.42	0.22433	.	0.332055	0.34777	N	0.003687	T	0.12732	0.0309	L	0.34521	1.04	0.20764	N	0.99986	B	0.18968	0.032	B	0.21360	0.034	T	0.14062	-1.0486	10	0.38643	T	0.18	-1.5455	4.3155	0.10991	0.0876:0.1317:0.5124:0.2682	.	286	Q9UJX0	OSGI1_HUMAN	L	286;203;203	ENSP00000343376:W286L;ENSP00000355374:W203L;ENSP00000376983:W203L	ENSP00000343376:W286L	W	+	2	0	OSGIN1	82556287	0.997000	0.39634	0.961000	0.40146	0.233000	0.25261	0.529000	0.23019	0.969000	0.38237	0.467000	0.42956	TGG		PASS	0.647	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		41	43	41	43	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85688444	85688444	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr16:85688444C>A	ENST00000253458.7	+	5	820	c.644C>A	c.(643-645)aCc>aAc	p.T215N	GSE1_ENST00000405402.2_Missense_Mutation_p.T111N|GSE1_ENST00000393243.1_Missense_Mutation_p.T142N	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	215								p.T215N(1)									AGTACCGTGACCGAGGACTAC	0.687																																						uc002fix.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(643-645)ACC>AAC		genetic suppressor element 1 isoform 1							88.0	67.0	74.0					16																	85688444		2190	4289	6479	SO:0001583	missense	23199						protein binding	g.chr16:85688444C>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.644C>A	16.37:g.85688444C>A	ENSP00000253458:p.Thr215Asn					KIAA0182_uc002fiw.2_Missense_Mutation_p.T111N|KIAA0182_uc002fiy.2_Missense_Mutation_p.T142N	p.T215N	NM_014615	NP_055430	Q14687	GSE1_HUMAN			5	718	+			215					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.644C>A	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.73|17.73	3.461873|3.461873	0.63513|0.63513	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	.|T;T;T	.|0.32753	.|1.45;1.45;1.44	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.049376	.|0.85682	.|D	.|0.000000	T|T	0.50171|0.50171	0.1600|0.1600	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D	.|0.71674	.|0.998;0.996	.|P;P	.|0.62649	.|0.905;0.806	T|T	0.46665|0.46665	-0.9175|-0.9175	5|10	.|0.41790	.|T	.|0.15	-29.5712|-29.5712	18.1876|18.1876	0.89797|0.89797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|142;215	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	T|N	22|111;111;215;142	.|ENSP00000384839:T111N;ENSP00000253458:T215N;ENSP00000376934:T142N	.|ENSP00000253458:T215N	P|T	+|+	1|2	0|0	KIAA0182|KIAA0182	84245945|84245945	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.589000|0.589000	0.36550|0.36550	7.033000|7.033000	0.76504|0.76504	2.362000|2.362000	0.80069|0.80069	0.555000|0.555000	0.69702|0.69702	CCG|ACC		PASS	0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		7	23	7	23	---	---	---	---
ABR	29	broad.mit.edu	37	17	910418	910418	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:910418T>A	ENST00000302538.5	-	22	2623	c.2477A>T	c.(2476-2478)gAc>gTc	p.D826V	ABR_ENST00000291107.2_Missense_Mutation_p.D789V|ABR_ENST00000536794.2_Missense_Mutation_p.D608V|ABR_ENST00000543210.2_Missense_Mutation_p.D277V|ABR_ENST00000572441.1_Intron|ABR_ENST00000544583.2_Missense_Mutation_p.D780V|ABR_ENST00000574437.1_Missense_Mutation_p.D780V	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	826	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D826V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGCCATGACGTCATGGGACCA	0.657																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2476-2478)GAC>GTC		active breakpoint cluster region-related							142.0	111.0	122.0					17																	910418		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:910418T>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2477A>T	17.37:g.910418T>A	ENSP00000303909:p.Asp826Val					ABR_uc002fse.2_Missense_Mutation_p.D780V|ABR_uc010vqf.1_Missense_Mutation_p.D277V|ABR_uc010vqg.1_Missense_Mutation_p.D608V|ABR_uc002fsg.2_Missense_Mutation_p.D789V|ABR_uc002fsf.2_Missense_Mutation_p.D363V	p.D826V	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	22	2587	-			826			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.2477A>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617873	0.87359	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.23552	1.94;1.96;1.9;3.16;2.96	6.17	6.17	0.99709	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.67145	0.988;0.99;0.982;0.996;0.996	P;P;P;D;D	0.65874	0.905;0.858;0.648;0.939;0.939	T	0.53215	-0.8470	10	0.87932	D	0	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	608;277;789;736;826	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	V	826;780;789;608;277	ENSP00000303909:D826V;ENSP00000442048:D780V;ENSP00000291107:D789V;ENSP00000437429:D608V;ENSP00000445198:D277V	ENSP00000291107:D789V	D	-	2	0	ABR	857168	1.000000	0.71417	0.979000	0.43373	0.793000	0.44817	8.033000	0.88852	2.371000	0.80710	0.533000	0.62120	GAC		PASS	0.657	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			27	22	27	22	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844354	3844354	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:3844354G>C	ENST00000352011.3	-	14	2065	c.2011C>G	c.(2011-2013)Cgc>Ggc	p.R671G	ATP2A3_ENST00000397041.3_Missense_Mutation_p.R671G|ATP2A3_ENST00000309890.7_Missense_Mutation_p.R671G|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R671G|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R671G|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R671G			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	671					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R671G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGGGCGGTGCGGCAGGCCTGG	0.652																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2011-2013)CGC>GGC		ATPase, Ca++ transporting, ubiquitous isoform b							52.0	55.0	54.0					17																	3844354		2202	4294	6496	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844354G>C		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2011C>G	17.37:g.3844354G>C	ENSP00000301387:p.Arg671Gly					ATP2A3_uc002fwx.1_Missense_Mutation_p.R671G|ATP2A3_uc002fwy.1_Missense_Mutation_p.R671G|ATP2A3_uc002fwz.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxa.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxc.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxd.1_Missense_Mutation_p.R671G	p.R671G	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2162	-			671			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2011C>G	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121720	0.37436	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	4.16	2.18	0.27775	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.391593	0.27275	N	0.020117	D	0.90058	0.6895	L	0.43152	1.355	0.45607	D	0.998543	P;B;B;B;B;B	0.46512	0.879;0.038;0.002;0.005;0.005;0.001	B;B;B;B;B;B	0.34138	0.176;0.015;0.009;0.005;0.005;0.005	D	0.86750	0.1960	10	0.41790	T	0.15	.	10.2097	0.43134	0.1548:0.0:0.8452:0.0	.	671;671;671;671;671;671	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	G	671	ENSP00000380236:R671G;ENSP00000301387:R671G;ENSP00000353072:R671G;ENSP00000380234:R671G;ENSP00000312577:R671G;ENSP00000380229:R671G	ENSP00000312577:R671G	R	-	1	0	ATP2A3	3791103	0.522000	0.26266	0.991000	0.47740	0.989000	0.77384	1.615000	0.36922	0.711000	0.32018	0.561000	0.74099	CGC		PASS	0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		48	45	48	45	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575|rs397516437		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:7577548C>A	ENST00000269305.4	-	7	922	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000420246.2_Missense_Mutation_p.G245C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							149.0	112.0	125.0					17																	7577548		2203	4300	6503	SO:0001583	missense	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.chr17:7577548C>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.733G>T	17.37:g.7577548C>A	ENSP00000269305:p.Gly245Cys	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_Missense_Mutation_p.G245C|TP53_uc002gih.2_Missense_Mutation_p.G245C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113C|TP53_uc010cng.1_Missense_Mutation_p.G113C|TP53_uc002gii.1_Missense_Mutation_p.G113C|TP53_uc010cnh.1_Missense_Mutation_p.G245C|TP53_uc010cni.1_Missense_Mutation_p.G245C|TP53_uc002gij.2_Missense_Mutation_p.G245C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152C|TP53_uc002gio.2_Missense_Mutation_p.G113C	p.G245C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579580	0.86645	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245C;ENSP00000352610:G245C;ENSP00000269305:G245C;ENSP00000398846:G245C;ENSP00000391127:G245C;ENSP00000391478:G245C;ENSP00000425104:G113C;ENSP00000423862:G152C	ENSP00000269305:G245C	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	35	23	35	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10364342	10364342	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:10364342A>G	ENST00000255381.2	-	12	1148	c.1038T>C	c.(1036-1038)gcT>gcC	p.A346A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	346	Myosin motor.				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.A346A(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						CCTTTTCATCAGCAGTGAAAC	0.483																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1036-1038)GCT>GCC		myosin, heavy polypeptide 4, skeletal muscle							164.0	140.0	148.0					17																	10364342		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.chr17:10364342A>G		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.1038T>C	17.37:g.10364342A>G						uc002gml.1_Intron	p.A346A	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			12	1149	-			346			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1038T>C	CCDS11154.1																																																																																				PASS	0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		47	57	47	57	---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39023052	39023052	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:39023052C>T	ENST00000251643.4	-	1	410	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	129	Coil 1A.|Rod.		M -> T (in MECD; dbSNP:rs28936695). {ECO:0000269|PubMed:10644419, ECO:0000269|PubMed:16352477}.		visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.M129I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TAAGATTTTGCATAGTTTCTT	0.448																																						uc002hvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)ATG>ATA		keratin 12							108.0	122.0	117.0					17																	39023052		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39023052C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.387G>A	17.37:g.39023052C>T	ENSP00000251643:p.Met129Ile						p.M129I	NM_000223	NP_000214	Q99456	K1C12_HUMAN			1	411	-		Breast(137;0.000301)	129			Rod.|Coil 1A.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.387G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121540	0.94385	.	.	ENSG00000187242	ENST00000251643	D	0.89875	-2.58	5.91	5.91	0.95273	Filament (1);	0.000000	0.64402	D	0.000007	D	0.93996	0.8077	M	0.80847	2.515	0.80722	D	1	D	0.56968	0.978	P	0.57620	0.824	D	0.94063	0.7328	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	129	Q99456	K1C12_HUMAN	I	129	ENSP00000251643:M129I	ENSP00000251643:M129I	M	-	3	0	KRT12	36276578	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	ATG		PASS	0.448	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		116	276	116	276	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610575	41610575	+	Silent	SNP	A	A	G	rs367792700		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:41610575A>G	ENST00000319349.5	-	7	823	c.525T>C	c.(523-525)caT>caC	p.H175H	ETV4_ENST00000545954.1_Silent_p.H136H|ETV4_ENST00000393664.2_Silent_p.H175H|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Silent_p.H175H|ETV4_ENST00000538265.1_Silent_p.H136H	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	175	Gln-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H175H(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CGAGGTACCCATGGCCAGGGT	0.577			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	1	Substitution - coding silent(1)		lung(1)	bone(4)|soft_tissue(2)|ovary(1)	7						c.(523-525)CAT>CAC		ets variant gene 4 (E1A enhancer binding		A	,	1,4405	2.1+/-5.4	0,1,2202	64.0	64.0	64.0		525,525	0.9	1.0	17		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ETV4	NM_001079675.1,NM_001986.2	,	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	,	175/485,175/485	41610575	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610575A>G	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.525T>C	17.37:g.41610575A>G						ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Intron|ETV4_uc010czh.2_Silent_p.H174H|ETV4_uc010wii.1_Silent_p.H136H|ETV4_uc002idx.2_Silent_p.H175H|ETV4_uc010wij.1_Silent_p.H136H|ETV4_uc002idy.1_Silent_p.H136H	p.H175H	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	653	-		Breast(137;0.00908)	175			Gln-rich.		A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.525T>C	CCDS11465.1																																																																																				PASS	0.577	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		59	126	59	126	---	---	---	---
WNT3	7473	broad.mit.edu	37	17	44851265	44851265	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:44851265G>C	ENST00000225512.5	-	2	253	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	31					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.L31V(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGCTGGCCCAGGGCCAGGGAC	0.622																																						uc002ikv.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(91-93)CTG>GTG		wingless-type MMTV integration site family,							26.0	26.0	26.0					17																	44851265		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851265G>C	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.91C>G	17.37:g.44851265G>C	ENSP00000225512:p.Leu31Val						p.L31V	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	210	-			31					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.91C>G	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	G	6.003	0.368912	0.11352	.	.	ENSG00000108379	ENST00000225512	T	0.75477	-0.94	4.68	3.7	0.42460	.	0.000000	0.56097	D	0.000028	T	0.49508	0.1561	N	0.08118	0	0.54753	D	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.34925	-0.9809	10	0.13853	T	0.58	.	8.8163	0.34998	0.0786:0.0:0.7704:0.1511	.	31	P56703	WNT3_HUMAN	V	31	ENSP00000225512:L31V	ENSP00000225512:L31V	L	-	1	2	WNT3	42206428	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	2.246000	0.43142	1.172000	0.42781	0.462000	0.41574	CTG		PASS	0.622	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		6	33	6	33	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49097545	49097545	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:49097545C>G	ENST00000262013.7	-	8	1274	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	SPAG9_ENST00000357122.4_Missense_Mutation_p.D342H|SPAG9_ENST00000505279.1_Missense_Mutation_p.D342H|SPAG9_ENST00000510283.1_Missense_Mutation_p.D199H	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	356					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.D342H(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CCACTGAGATCTTTGTCCATA	0.403																																						uc002itc.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)	5						c.(1066-1068)GAT>CAT		sperm associated antigen 9 isoform 1							122.0	104.0	110.0					17																	49097545		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49097545C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1066G>C	17.37:g.49097545C>G	ENSP00000262013:p.Asp356His					SPAG9_uc002itb.2_Missense_Mutation_p.D342H|SPAG9_uc002itd.2_Missense_Mutation_p.D342H|SPAG9_uc002itf.2_Missense_Mutation_p.D177H|SPAG9_uc002ita.2_Missense_Mutation_p.D199H|SPAG9_uc002ite.2_Missense_Mutation_p.D186H	p.D356H	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		8	1275	-			356					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.1066G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322700	0.81580	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.25085	1.85;1.82;1.85;1.85	5.18	5.18	0.71444	.	0.052646	0.64402	D	0.000001	T	0.46946	0.1419	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.951;0.947;0.994;0.983	T	0.43605	-0.9381	10	0.66056	D	0.02	-12.6418	18.7005	0.91618	0.0:1.0:0.0:0.0	.	342;356;342;356;342;199	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	H	356;112;98;98;199;342;342;26	ENSP00000262013:D356H;ENSP00000423165:D199H;ENSP00000426900:D342H;ENSP00000349636:D342H	ENSP00000262013:D356H	D	-	1	0	SPAG9	46452544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.708000	0.68377	2.414000	0.81942	0.563000	0.77884	GAT		PASS	0.403	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		3	125	3	125	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833427	56833427	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:56833427C>A	ENST00000308249.2	+	1	198	c.69C>A	c.(67-69)cgC>cgA	p.R23R		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.R23R(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCGAGTTTCGCGGACCGTGCG	0.667																																						uc002iwx.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|lung(1)|skin(1)	5						c.(67-69)CGC>CGA		protein phosphatase 1E							18.0	24.0	22.0					17																	56833427		2202	4298	6500	SO:0001819	synonymous_variant	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833427C>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.69C>A	17.37:g.56833427C>A						PPM1E_uc010ddd.2_5'UTR	p.R23R	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	196	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		23			Glu-rich.		Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	c.69C>A	CCDS11613.1																																																																																				PASS	0.667	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		14	20	14	20	---	---	---	---
CSHL1	1444	broad.mit.edu	37	17	61987119	61987119	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:61987119G>C	ENST00000309894.5	-	5	620	c.621C>G	c.(619-621)ttC>ttG	p.F207L	CSHL1_ENST00000438387.2_Missense_Mutation_p.F124L|CSHL1_ENST00000346606.6_Missense_Mutation_p.F113L|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.F145L|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	207						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)	p.F207L(1)		endometrium(3)|lung(6)	9						CCATGCGCAGGAATGTCTCGA	0.597																																						uc002jda.1																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)TTC>TTG		chorionic somatomammotropin hormone-like 1							141.0	124.0	130.0					17																	61987119		2203	4298	6501	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987119G>C	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.621C>G	17.37:g.61987119G>C	ENSP00000309524:p.Phe207Leu					CSHL1_uc002jcz.1_Missense_Mutation_p.F184L|CSHL1_uc002jdb.1_Missense_Mutation_p.F113L|CSHL1_uc002jdc.1_Missense_Mutation_p.F124L|CSHL1_uc002jdd.1_Missense_Mutation_p.F145L|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_3'UTR|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_3'UTR	p.F207L	NM_022579	NP_072101	Q14406	CSHL_HUMAN			5	683	-			207					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.621C>G	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837641	0.50951	.	.	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606	D;D;D	0.91407	-2.84;-2.84;-2.84	3.6	3.6	0.41247	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.355960	0.01963	N	0.043497	D	0.96818	0.8961	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.962;0.931;0.997;0.984	D	0.88514	0.3091	10	0.87932	D	0	.	14.1399	0.65313	0.0:0.0:1.0:0.0	.	113;124;207;184	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	L	207;124;202;113	ENSP00000309524:F207L;ENSP00000402632:F124L;ENSP00000316360:F113L	ENSP00000259003:F202L	F	-	3	2	GH1	59340851	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	2.828000	0.48120	1.730000	0.51580	0.305000	0.20034	TTC		PASS	0.597	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		43	102	43	102	---	---	---	---
FADS6	283985	broad.mit.edu	37	17	72888777	72888777	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr17:72888777G>A	ENST00000310226.6	-	2	244	c.230C>T	c.(229-231)gCa>gTa	p.A77V		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	83					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.A82V(1)|p.A77V(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GATGCCGGATGCAAAGACCAG	0.602																																						uc002jmd.1																			2	Substitution - Missense(2)		lung(2)		0						c.(229-231)GCA>GTA		fatty acid desaturase domain family, member 6							44.0	47.0	46.0					17																	72888777		2062	4197	6259	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72888777G>A	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.230C>T	17.37:g.72888777G>A	ENSP00000307821:p.Ala77Val						p.A77V	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			2	242	-	all_lung(278;0.172)|Lung NSC(278;0.207)		83			Helical; (Potential).		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.230C>T	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.223571	0.01530	.	.	ENSG00000172782	ENST00000310226	T	0.16743	2.32	5.32	0.67	0.17923	Fatty acid desaturase, type 1 (1);	0.626323	0.16800	N	0.199009	T	0.10121	0.0248	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36939	-0.9727	10	0.16420	T	0.52	-22.6237	4.5517	0.12116	0.3738:0.2918:0.3344:0.0	.	83	Q8N9I5	FADS6_HUMAN	V	77	ENSP00000307821:A77V	ENSP00000307821:A77V	A	-	2	0	FADS6	70400372	0.008000	0.16893	0.073000	0.20177	0.008000	0.06430	1.324000	0.33712	-0.062000	0.13088	-0.149000	0.13747	GCA		PASS	0.602	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			13	22	13	22	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5891767	5891767	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:5891767G>T	ENST00000581347.2	-	3	941	c.296C>A	c.(295-297)cCa>cAa	p.P99Q	TMEM200C_ENST00000383490.2_Missense_Mutation_p.P99Q|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	99						integral component of membrane (GO:0016021)		p.P99Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGCCGTGGTTGGGACCCGGTG	0.692																																						uc002kmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CCA>CAA		transmembrane protein 200C							32.0	39.0	37.0					18																	5891767		1934	4132	6066	SO:0001583	missense	645369					integral to membrane		g.chr18:5891767G>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.296C>A	18.37:g.5891767G>T	ENSP00000463375:p.Pro99Gln						p.P99Q	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	337	-			99						Missense_Mutation	SNP	ENST00000581347.2	37	c.296C>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128786	0.06753	.	.	ENSG00000206432	ENST00000383490	.	.	.	3.9	-2.81	0.05805	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.21075	-1.0256	8	0.27082	T	0.32	.	1.1029	0.01687	0.2599:0.1131:0.1736:0.4534	.	99	A6NKL6	T200C_HUMAN	Q	99	.	ENSP00000372982:P99Q	P	-	2	0	TMEM200C	5881767	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.344000	0.19962	-0.508000	0.06540	0.460000	0.39030	CCA		PASS	0.692	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		13	26	13	26	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6961626	6961626	+	Missense_Mutation	SNP	C	C	T	rs373829095		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:6961626C>T	ENST00000389658.3	-	53	7678	c.7585G>A	c.(7585-7587)Ggg>Agg	p.G2529R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2529	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G2529R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCACATCCCCGCCGAGGGCA	0.537																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7585-7587)GGG>AGG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	ARG/GLY	0,4406		0,0,2203	47.0	42.0	44.0		7585	0.6	0.0	18		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2529/3076	6961626	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961626C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7585G>A	18.37:g.6961626C>T	ENSP00000374309:p.Gly2529Arg					LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.G2005R	p.G2529R	NM_005559	NP_005550	P25391	LAMA1_HUMAN			53	7679	-		Colorectal(10;0.172)	2529			Laminin G-like 3.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7585G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019534	0.08006	0.0	1.16E-4	ENSG00000101680	ENST00000389658	D	0.82893	-1.66	5.6	0.555	0.17247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.981079	0.08325	N	0.963185	T	0.65852	0.2731	N	0.12443	0.215	0.18873	N	0.999989	B	0.16802	0.019	B	0.14578	0.011	T	0.48875	-0.8996	10	0.24483	T	0.36	.	6.1463	0.20287	0.0:0.1413:0.2737:0.5851	.	2529	P25391	LAMA1_HUMAN	R	2529	ENSP00000374309:G2529R	ENSP00000374309:G2529R	G	-	1	0	LAMA1	6951626	0.270000	0.24152	0.022000	0.16811	0.105000	0.19272	1.131000	0.31406	-0.120000	0.11809	-0.302000	0.09304	GGG		PASS	0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		12	34	12	34	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806795	22806795	+	Missense_Mutation	SNP	G	G	A	rs555923496		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:22806795G>A	ENST00000361524.3	-	4	1235	c.1087C>T	c.(1087-1089)Ctc>Ttc	p.L363F	ZNF521_ENST00000538137.2_Missense_Mutation_p.L363F|ZNF521_ENST00000584787.1_Missense_Mutation_p.L143F|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	363					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)	p.L363F(1)|p.L363V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCACTGAGAGGTTGGAATCT	0.582			T	PAX5	ALL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		15239	0.0		0.0	False		,,,				2504	0.0					uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1087-1089)CTC>TTC		zinc finger protein 521							76.0	73.0	74.0					18																	22806795		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806795G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1087C>T	18.37:g.22806795G>A	ENSP00000354794:p.Leu363Phe					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L363F|ZNF521_uc002kvl.2_Missense_Mutation_p.L143F	p.L363F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1334	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		363					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1087C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465394	0.26335	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.08118	0	0.39400	D	0.966577	D	0.61697	0.99	P	0.62089	0.898	T	0.16012	-1.0417	10	0.52906	T	0.07	-27.1946	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	363	Q96K83	ZN521_HUMAN	F	363;397;363	ENSP00000354794:L363F;ENSP00000382352:L363F	ENSP00000354794:L363F	L	-	1	0	ZNF521	21060793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.350000	0.73017	2.941000	0.99782	0.655000	0.94253	CTC		PASS	0.582	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		40	145	40	145	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31226214	31226214	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:31226214G>T	ENST00000269197.5	+	4	252	c.252G>T	c.(250-252)gaG>gaT	p.E84D		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	84					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.E84E(1)|p.E84D(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACAGAAAGAGGAGTCGTCAT	0.383																																						uc010dmg.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|pancreas(1)	3						c.(250-252)GAG>GAT		additional sex combs like 3							104.0	100.0	101.0					18																	31226214		1953	4157	6110	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31226214G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.252G>T	18.37:g.31226214G>T	ENSP00000269197:p.Glu84Asp					ASXL3_uc002kxq.2_Translation_Start_Site	p.E84D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			4	307	+			84					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.252G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647139	0.47258	.	.	ENSG00000141431	ENST00000269197	T	0.10477	2.87	5.47	1.67	0.24075	.	.	.	.	.	T	0.09423	0.0232	N	0.04686	-0.185	0.31273	N	0.691535	D	0.63880	0.993	D	0.70016	0.967	T	0.03335	-1.1047	9	0.02654	T	1	.	8.0725	0.30697	0.5131:0.0:0.4869:0.0	.	84	Q9C0F0	ASXL3_HUMAN	D	84	ENSP00000269197:E84D	ENSP00000269197:E84D	E	+	3	2	ASXL3	29480212	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.195000	0.32186	0.383000	0.24910	0.555000	0.69702	GAG		PASS	0.383	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			22	38	22	38	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51807181	51807181	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:51807181C>G	ENST00000579534.1	+	5	847	c.704C>G	c.(703-705)tCt>tGt	p.S235C	POLI_ENST00000579434.1_Missense_Mutation_p.S132C|POLI_ENST00000406285.3_Intron|POLI_ENST00000217800.5_Missense_Mutation_p.S109C	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	235	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S235C(1)|p.S210C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATTAGTTTCTGGTGTCTTT	0.393								DNA polymerases (catalytic subunits)																														uc002lfj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(703-705)TCT>TGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							107.0	108.0	107.0					18																	51807181		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51807181C>G		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.704C>G	18.37:g.51807181C>G	ENSP00000462664:p.Ser235Cys					POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Missense_Mutation_p.S132C|POLI_uc002lfl.1_Missense_Mutation_p.S167C|POLI_uc010dpg.2_5'Flank	p.S235C	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	772	+			235			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.704C>G	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985298	0.35036	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	4.84	0.62591	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.056571	0.64402	D	0.000001	T	0.79885	0.4523	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81951	-0.0698	9	0.49607	T	0.09	-13.3483	14.2656	0.66116	0.0:0.8508:0.1492:0.0	.	235	Q9UNA4	POLI_HUMAN	C	235	.	ENSP00000217800:S235C	S	+	2	0	POLI	50061179	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.854000	0.55949	1.532000	0.49169	0.650000	0.86243	TCT		PASS	0.393	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		4	140	4	140	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59212338	59212338	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:59212338G>A	ENST00000262717.4	+	10	2007	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T	CDH20_ENST00000538374.1_Missense_Mutation_p.A537T|CDH20_ENST00000536675.2_Missense_Mutation_p.A537T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A537T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGCTCCTGAGGCTGCTAACAA	0.502																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1609-1611)GCT>ACT		cadherin 20, type 2 preproprotein							197.0	156.0	170.0					18																	59212338		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59212338G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1609G>A	18.37:g.59212338G>A	ENSP00000262717:p.Ala537Thr					CDH20_uc002lif.2_Missense_Mutation_p.A531T	p.A537T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			9	1621	+		Colorectal(73;0.186)	537			Cadherin 5.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1609G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615044	0.87359	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.52526	0.66;0.66;0.66	6.01	6.01	0.97437	Cadherin (4);Cadherin-like (1);	0.050671	0.85682	D	0.000000	T	0.61800	0.2376	L	0.58583	1.82	0.80722	D	1	P	0.40681	0.727	P	0.53760	0.734	T	0.47983	-0.9074	10	0.21540	T	0.41	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	537	Q9HBT6	CAD20_HUMAN	T	537	ENSP00000444767:A537T;ENSP00000442226:A537T;ENSP00000262717:A537T	ENSP00000262717:A537T	A	+	1	0	CDH20	57363318	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.577000	0.67444	2.861000	0.98227	0.650000	0.86243	GCT		PASS	0.502	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		51	43	51	43	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67614156	67614156	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:67614156T>A	ENST00000280200.4	-	3	464	c.196A>T	c.(196-198)Act>Tct	p.T66S	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.T66S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	66	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.T66S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ATGCCATGAGTAGGGCTGAAA	0.453																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)ACT>TCT		CD226 molecule precursor							104.0	86.0	92.0					18																	67614156		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614156T>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.196A>T	18.37:g.67614156T>A	ENSP00000280200:p.Thr66Ser					CD226_uc002lkm.3_Missense_Mutation_p.T66S	p.T66S	NM_006566	NP_006557	Q15762	CD226_HUMAN			2	643	-		Esophageal squamous(42;0.129)	66			Ig-like C2-type 1.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.196A>T	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.533047	0.27387	.	.	ENSG00000150637	ENST00000280200	T	0.02395	4.31	5.51	-3.45	0.04781	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.982854	0.08365	N	0.957071	T	0.02342	0.0072	L	0.38175	1.15	0.09310	N	1	P	0.35656	0.514	B	0.39217	0.294	T	0.45731	-0.9241	10	0.11182	T	0.66	.	4.0378	0.09737	0.3015:0.3895:0.0:0.309	.	66	Q15762	CD226_HUMAN	S	66	ENSP00000280200:T66S	ENSP00000280200:T66S	T	-	1	0	CD226	65765136	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.122000	0.03267	-0.392000	0.07751	-0.333000	0.08304	ACT		PASS	0.453	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		23	29	23	29	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	77067172	77067172	+	Missense_Mutation	SNP	G	G	C	rs113878267	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:77067172G>C	ENST00000426216.2	+	15	1728	c.1711G>C	c.(1711-1713)Gca>Cca	p.A571P	ATP9B_ENST00000307671.7_Missense_Mutation_p.A571P	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	571					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A571P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACTGAGTTCGCAGAGGCTGA	0.557																																						uc002lmx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1711-1713)GCA>CCA		ATPase, class II, type 9B							106.0	98.0	101.0					18																	77067172		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77067172G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1711G>C	18.37:g.77067172G>C	ENSP00000398076:p.Ala571Pro					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.A571P|ATP9B_uc002lmz.1_Missense_Mutation_p.A265P	p.A571P	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	15	1725	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	571			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1711G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610082	0.14066	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.96136	-3.92;-3.92	5.01	1.24	0.21308	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.581707	0.18135	N	0.150611	D	0.89223	0.6654	L	0.27053	0.805	0.45250	D	0.998254	B;B	0.09022	0.002;0.001	B;B	0.18871	0.023;0.013	T	0.79155	-0.1920	10	0.51188	T	0.08	.	4.6828	0.12743	0.3007:0.0:0.5599:0.1394	.	571;571	O43861;O43861-2	ATP9B_HUMAN;.	P	571	ENSP00000398076:A571P;ENSP00000304500:A571P	ENSP00000304500:A571P	A	+	1	0	ATP9B	75168160	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.189000	0.50965	-0.055000	0.13244	-0.251000	0.11542	GCA		PASS	0.557	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		6	131	6	131	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1004634	1004634	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:1004634G>A	ENST00000234389.3	+	3	1153	c.1134G>A	c.(1132-1134)cgG>cgA	p.R378R	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	378					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.R378R(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGACCCACGGGGCGCCCCGG	0.731																																						uc002lqo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1132-1134)CGG>CGA		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						10.0	11.0	11.0					19																	1004634		2156	4199	6355	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004634G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1134G>A	19.37:g.1004634G>A							p.R378R	NM_138690	NP_619635	O60391	NMD3B_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)	3	1134	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	378			Extracellular (Potential).		Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1134G>A	CCDS32861.1																																																																																				PASS	0.731	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	7	4	7	---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1255693	1255693	+	Splice_Site	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:1255693G>T	ENST00000591446.2	+	6	1538	c.1129G>T	c.(1129-1131)Ggg>Tgg	p.G377W	MIDN_ENST00000300952.2_Splice_Site_p.G377W			Q504T8	MIDN_HUMAN	midnolin	377						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.G377W(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CAAGCCCCCGGGTGAGTGGCC	0.692																																						uc002lrp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)GGG>TGG		midnolin							9.0	14.0	12.0					19																	1255693		2132	4236	6368	SO:0001630	splice_region_variant	90007					nucleolus		g.chr19:1255693G>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1129+1G>T	19.37:g.1255693G>T							p.G377W	NM_177401	NP_796375	Q504T8	MIDN_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)	7	1644	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	377					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1129G>T	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394963	0.62066	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.5	3.5	0.40072	.	0.000000	0.85682	U	0.000000	T	0.74619	0.3740	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77885	-0.2421	9	0.87932	D	0	-14.0572	12.5317	0.56120	0.0:0.0:1.0:0.0	.	377	Q504T8	MIDN_HUMAN	W	377	.	ENSP00000300952:G377W	G	+	1	0	MIDN	1206693	1.000000	0.71417	0.988000	0.46212	0.569000	0.35902	4.667000	0.61561	1.785000	0.52413	0.462000	0.41574	GGG		PASS	0.692	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2		Missense_Mutation	6	7	6	7	---	---	---	---
NFIC	4782	broad.mit.edu	37	19	3382208	3382208	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:3382208G>A	ENST00000443272.2	+	2	580	c.529G>A	c.(529-531)Gac>Aac	p.D177N	NFIC_ENST00000395111.3_Missense_Mutation_p.D168N|NFIC_ENST00000589123.1_Missense_Mutation_p.D168N|NFIC_ENST00000590282.1_Missense_Mutation_p.D177N|NFIC_ENST00000586919.1_Missense_Mutation_p.D168N|NFIC_ENST00000341919.3_Missense_Mutation_p.D177N|NFIC_ENST00000346156.5_Missense_Mutation_p.D168N	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	177					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D168N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAAGGAGCTGGACCTCTACCT	0.687																																						uc010xhi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GAC>AAC		nuclear factor I/C isoform 2							55.0	53.0	53.0					19																	3382208		2196	4272	6468	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382208G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.529G>A	19.37:g.3382208G>A	ENSP00000396843:p.Asp177Asn					NFIC_uc002lxo.2_Missense_Mutation_p.D168N|NFIC_uc010xhh.1_Missense_Mutation_p.D168N|NFIC_uc002lxp.2_Missense_Mutation_p.D177N|NFIC_uc010xhj.1_Missense_Mutation_p.D177N|NFIC_uc002lxq.1_Missense_Mutation_p.D129N	p.D177N	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	591	+		Hepatocellular(1079;0.137)	177			CTF/NF-I.		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.529G>A	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826790	0.90955	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.70045	-0.45;0.35;-0.45	3.88	3.88	0.44766	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.997;0.998;0.998;0.998	D;D;D;D;D	0.81914	0.989;0.989;0.995;0.995;0.995	T	0.83285	-0.0036	10	0.87932	D	0	.	14.8198	0.70062	0.0:0.0:1.0:0.0	.	177;177;168;177;168	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	N	168;168;168;177;177;177	ENSP00000378543:D168N;ENSP00000301935:D168N;ENSP00000342194:D177N	ENSP00000269778:D177N	D	+	1	0	NFIC	3333208	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.483000	0.97937	1.879000	0.54435	0.467000	0.42956	GAC		PASS	0.687	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		42	65	42	65	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610247	10610247	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:10610247C>A	ENST00000171111.5	-	2	1010	c.463G>T	c.(463-465)Gtc>Ttc	p.V155F	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V155F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	155					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.V155F(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGTTCATGACGTGGAGGACA	0.587																																						uc002moq.1																			2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(463-465)GTC>TTC		kelch-like ECH-associated protein 1							185.0	145.0	159.0					19																	10610247		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610247C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.463G>T	19.37:g.10610247C>A	ENSP00000171111:p.Val155Phe					KEAP1_uc002mor.1_Missense_Mutation_p.V155F	p.V155F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	619	-			155					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.463G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042537	0.55003	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72725	-0.68;-0.68	4.81	2.54	0.30619	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.060118	0.64402	D	0.000003	T	0.80154	0.4571	M	0.73962	2.25	0.53688	D	0.999974	D	0.71674	0.998	D	0.67900	0.954	T	0.80955	-0.1151	10	0.87932	D	0	.	9.5904	0.39543	0.159:0.6873:0.1536:0.0	.	155	Q14145	KEAP1_HUMAN	F	155	ENSP00000171111:V155F;ENSP00000377245:V155F	ENSP00000171111:V155F	V	-	1	0	KEAP1	10471247	0.933000	0.31639	0.995000	0.50966	0.367000	0.29736	1.988000	0.40697	1.019000	0.39547	-0.304000	0.09214	GTC		PASS	0.587	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		30	69	30	69	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13335510	13335510	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:13335510C>T	ENST00000360228.5	-	38	5701	c.5702G>A	c.(5701-5703)cGc>cAc	p.R1901H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1902H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1902					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.R1902H(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGCTGTGCGGATCAGAGC	0.607																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(5704-5706)CGC>CAC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						50.0	57.0	55.0					19																	13335510		2045	4191	6236	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13335510C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5702G>A	19.37:g.13335510C>T	ENSP00000353362:p.Arg1901His					CACNA1A_uc010xnd.1_Missense_Mutation_p.R607H|CACNA1A_uc002mwx.3_Missense_Mutation_p.R607H|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1427H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1901H|CACNA1A_uc002mwv.3_Missense_Mutation_p.R418H	p.R1902H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		38	5941	-			1902			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5705G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848945	0.71603	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.66099	-0.19	4.31	4.31	0.51392	.	0.092186	0.40640	N	0.001043	T	0.82231	0.4992	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.76071	0.978;0.987;0.987;0.97	D	0.86909	0.2059	10	0.87932	D	0	.	15.5372	0.76013	0.0:1.0:0.0:0.0	.	1902;1907;1901;1902	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	H	1901;1907;1902;1902	ENSP00000353362:R1901H	ENSP00000317661:R1902H	R	-	2	0	CACNA1A	13196510	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.705000	0.84606	1.939000	0.56221	0.305000	0.20034	CGC		PASS	0.607	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	25	5	25	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839471	15839471	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:15839471G>T	ENST00000305899.3	+	1	638	c.618G>T	c.(616-618)atG>atT	p.M206I		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M206I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TATGTATCATGGCACTGCTGG	0.512																																						uc002nbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(616-618)ATG>ATT		olfactory receptor, family 10, subfamily H,							242.0	192.0	209.0					19																	15839471		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839471G>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.618G>T	19.37:g.15839471G>T	ENSP00000306095:p.Met206Ile						p.M206I	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	638	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		206			Helical; Name=5; (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.618G>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.064	-1.216581	0.01542	.	.	ENSG00000171942	ENST00000305899	T	0.34072	1.38	3.39	-6.79	0.01715	GPCR, rhodopsin-like superfamily (1);	0.799087	0.10770	N	0.636117	T	0.09774	0.0240	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15206	-1.0445	10	0.39692	T	0.17	.	1.3809	0.02230	0.2006:0.1898:0.1382:0.4714	.	206	O60403	O10H2_HUMAN	I	206	ENSP00000306095:M206I	ENSP00000306095:M206I	M	+	3	0	OR10H2	15700471	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-3.004000	0.00651	-3.288000	0.00195	0.531000	0.56144	ATG		PASS	0.512	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			24	125	24	125	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17311601	17311601	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:17311601A>G	ENST00000594824.1	+	26	4673	c.4526A>G	c.(4525-4527)aAt>aGt	p.N1509S	MYO9B_ENST00000397274.2_Missense_Mutation_p.N1509S|MYO9B_ENST00000595618.1_Missense_Mutation_p.N1509S			Q13459	MYO9B_HUMAN	myosin IXB	1509	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.N1509S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCAACGCCAATGAGCTCAAG	0.572																																						uc010eak.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(4525-4527)AAT>AGT		myosin IXB isoform 1							133.0	142.0	139.0					19																	17311601		2100	4207	6307	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311601A>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4526A>G	19.37:g.17311601A>G	ENSP00000471367:p.Asn1509Ser					MYO9B_uc002nfi.2_Missense_Mutation_p.N1509S|MYO9B_uc002nfj.1_Missense_Mutation_p.N1509S|MYO9B_uc002nfl.1_Missense_Mutation_p.N58S	p.N1509S	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			26	4678	+			1509			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4526A>G		.	.	.	.	.	.	.	.	.	.	A	16.31	3.087846	0.55968	.	.	ENSG00000099331	ENST00000397274	D	0.84070	-1.8	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000016	D	0.85017	0.5601	L	0.33339	1.005	0.48975	D	0.999736	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.83275	0.989;0.996;0.989;0.99	T	0.82289	-0.0531	10	0.22706	T	0.39	.	13.4133	0.60954	1.0:0.0:0.0:0.0	.	1509;1509;1509;1515	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	S	1509	ENSP00000380444:N1509S	ENSP00000380444:N1509S	N	+	2	0	MYO9B	17172601	1.000000	0.71417	0.903000	0.35520	0.958000	0.62258	8.086000	0.89520	1.780000	0.52325	0.358000	0.22013	AAT		PASS	0.572	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			25	126	25	126	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19337859	19337859	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:19337859A>G	ENST00000252575.6	+	7	1736	c.1637A>G	c.(1636-1638)aAt>aGt	p.N546S	NCAN_ENST00000538881.1_5'UTR	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	546					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.N560S(1)|p.N546S(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GATCTGACCAATGAGGTGGAT	0.602																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1636-1638)AAT>AGT		chondroitin sulfate proteoglycan 3 precursor							26.0	27.0	27.0					19																	19337859		2150	4211	6361	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337859A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1637A>G	19.37:g.19337859A>G	ENSP00000252575:p.Asn546Ser					NCAN_uc010ecc.1_Missense_Mutation_p.N110S	p.N546S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1736	+			546					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1637A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899194	0.52227	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.85702	-2.02	5.13	5.13	0.70059	.	0.191100	0.25692	N	0.028938	D	0.85465	0.5703	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	T	0.81197	-0.1042	10	0.13470	T	0.59	.	11.333	0.49487	1.0:0.0:0.0:0.0	.	560;546	Q4LE67;O14594	.;NCAN_HUMAN	S	560;546	ENSP00000252575:N546S	ENSP00000252575:N546S	N	+	2	0	NCAN	19198859	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	2.602000	0.46257	1.942000	0.56320	0.379000	0.24179	AAT		PASS	0.602	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		11	61	11	61	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155187	22155187	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:22155187A>T	ENST00000397126.4	-	4	2797	c.2649T>A	c.(2647-2649)caT>caA	p.H883Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	883					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H783Q(4)|p.H883Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCTCCAGTATGAATTTTCT	0.373																																						uc002nqp.2																			6	Substitution - Missense(6)		lung(6)	ovary(5)|skin(2)	7						c.(2347-2349)CAT>CAA		zinc finger protein 208							41.0	44.0	43.0					19																	22155187		2052	4209	6261	SO:0001583	missense	7757							g.chr19:22155187A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2649T>A	19.37:g.22155187A>T	ENSP00000380315:p.His883Gln					ZNF208_uc002nqo.1_Intron	p.H783Q	NM_007153	NP_009084					5	2498	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2349T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390866	0.42410	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.66995	-0.24	2.58	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76190	0.3953	.	.	.	0.24015	N	0.99617	D	0.76494	0.999	D	0.85130	0.997	T	0.67039	-0.5771	8	0.87932	D	0	.	8.3196	0.32121	0.3694:0.0:0.6306:0.0	.	783	O43345	ZN208_HUMAN	Q	883;783	ENSP00000380315:H883Q	ENSP00000380315:H883Q	H	-	3	2	ZNF208	21947027	0.997000	0.39634	0.029000	0.17559	0.012000	0.07955	1.884000	0.39668	-0.504000	0.06577	-0.804000	0.03201	CAT		PASS	0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		29	66	29	66	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155416	22155416	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:22155416C>G	ENST00000397126.4	-	4	2568	c.2420G>C	c.(2419-2421)tGt>tCt	p.C807S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	807					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C707S(2)|p.C807S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTCTTCACATTTGTAGGG	0.373																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2119-2121)TGT>TCT		zinc finger protein 208							53.0	63.0	59.0					19																	22155416		2093	4240	6333	SO:0001583	missense	7757							g.chr19:22155416C>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2420G>C	19.37:g.22155416C>G	ENSP00000380315:p.Cys807Ser					ZNF208_uc002nqo.1_Intron	p.C707S	NM_007153	NP_009084					5	2269	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2120G>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450847	0.43531	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85171	-1.95	2.57	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91126	0.7206	.	.	.	0.23063	N	0.998354	D	0.76494	0.999	D	0.97110	1.0	T	0.82188	-0.0581	8	0.72032	D	0.01	.	11.9194	0.52783	0.0:1.0:0.0:0.0	.	707	O43345	ZN208_HUMAN	S	807;707	ENSP00000380315:C807S	ENSP00000380315:C807S	C	-	2	0	ZNF208	21947256	0.995000	0.38212	0.014000	0.15608	0.451000	0.32288	5.222000	0.65277	1.019000	0.39547	0.280000	0.19369	TGT		PASS	0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		21	97	21	97	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574340	22574340	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:22574340C>A	ENST00000357774.5	-	4	1818	c.1697G>T	c.(1696-1698)aGa>aTa	p.R566I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	566					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.R566I(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGCACAATTTCTTTTATATTT	0.328																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1696-1698)AGA>ATA		zinc finger protein 98							22.0	18.0	20.0					19																	22574340		1761	3979	5740	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574340C>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1697G>T	19.37:g.22574340C>A	ENSP00000350418:p.Arg566Ile						p.R566I	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1819	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	566						Missense_Mutation	SNP	ENST00000357774.5	37	c.1697G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	3.253	-0.152807	0.06585	.	.	ENSG00000197360	ENST00000357774	T	0.07021	3.23	1.35	0.12	0.14691	.	.	.	.	.	T	0.07954	0.0199	L	0.56340	1.77	0.20926	N	0.999822	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	9	0.33940	T	0.23	.	5.1075	0.14793	0.0:0.7875:0.0:0.2125	.	566	A6NK75	ZNF98_HUMAN	I	566	ENSP00000350418:R566I	ENSP00000350418:R566I	R	-	2	0	ZNF98	22366180	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.498000	0.06420	-0.086000	0.12550	0.281000	0.19383	AGA		PASS	0.328	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		12	13	12	13	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33695549	33695549	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:33695549G>T	ENST00000253193.7	+	4	468	c.266G>T	c.(265-267)cGc>cTc	p.R89L	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.R89L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGCAGCTTCCGCAACTTTGAC	0.687																																						uc010edh.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(265-267)CGC>CTC		low density lipoprotein receptor-related protein							80.0	85.0	83.0					19																	33695549		2203	4298	6501	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695549G>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.266G>T	19.37:g.33695549G>T	ENSP00000253193:p.Arg89Leu					LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.R89L	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	359	+	Esophageal squamous(110;0.137)		89			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.266G>T	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166106	0.57476	.	.	ENSG00000130881	ENST00000253193	T	0.17370	2.28	4.11	3.08	0.35506	CUB (5);	0.301114	0.28398	N	0.015490	T	0.10035	0.0246	N	0.11364	0.135	0.80722	D	1	P	0.49862	0.929	P	0.45946	0.498	T	0.09997	-1.0649	10	0.72032	D	0.01	-25.6083	5.3638	0.16103	0.3357:0.0:0.6643:0.0	.	89	O75074	LRP3_HUMAN	L	89	ENSP00000253193:R89L	ENSP00000253193:R89L	R	+	2	0	LRP3	38387389	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	1.762000	0.38451	1.083000	0.41159	0.561000	0.74099	CGC		PASS	0.687	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			63	233	63	233	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38847171	38847171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:38847171G>T	ENST00000409235.3	+	10	1298	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CATSPERG_ENST00000215069.4_Intron|CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.E395*	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	395					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.E35*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTCTGTGTGCGAGCAGATAGG	0.612																																						uc002oih.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1183-1185)GAG>TAG		cation channel, sperm-associated, gamma							153.0	123.0	134.0					19																	38847171		2203	4300	6503	SO:0001587	stop_gained	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38847171G>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1183G>T	19.37:g.38847171G>T	ENSP00000386962:p.Glu395*					CATSPERG_uc002oig.3_Nonsense_Mutation_p.E395*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.E35*|CATSPERG_uc010efw.2_RNA	p.E395*	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			10	1270	+			395			Extracellular (Potential).		A6NEG6|Q659E1	Nonsense_Mutation	SNP	ENST00000409235.3	37	c.1183G>T	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204608	0.79127	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	.	.	.	4.87	-3.21	0.05140	.	1.081220	0.07115	N	0.842936	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.0456	5.863	0.18759	0.2841:0.449:0.2669:0.0	.	.	.	.	X	395	.	ENSP00000386962:E395X	E	+	1	0	CATSPERG	43539011	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.880000	0.04183	-0.472000	0.06881	-0.264000	0.10439	GAG		PASS	0.612	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		4	191	4	191	---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39964981	39964981	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:39964981G>A	ENST00000599117.1	+	28	3126	c.2759G>A	c.(2758-2760)gGc>gAc	p.G920D	SUPT5H_ENST00000402194.2_Missense_Mutation_p.G916D|SUPT5H_ENST00000359191.6_Missense_Mutation_p.G916D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.G920D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.G920D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	920	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.G920D(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCCCAGCAGGCTACCAGAAT	0.637											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002olo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2758-2760)GGC>GAC		suppressor of Ty 5 homolog isoform a							93.0	82.0	86.0					19																	39964981		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964981G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2759G>A	19.37:g.39964981G>A	ENSP00000470252:p.Gly920Asp		OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_uc002olp.3_Missense_Mutation_p.G920D|SUPT5H_uc002olq.3_Missense_Mutation_p.G916D|SUPT5H_uc002oln.3_Missense_Mutation_p.G920D|SUPT5H_uc002olr.3_Missense_Mutation_p.G920D|SUPT5H_uc002ols.1_Missense_Mutation_p.G543D	p.G920D	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		27	2938	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		920			10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|CTR2-7; approximate.|Pro-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2759G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733954	0.48939	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.34521	1.04	0.80722	D	1	B;B;B	0.32717	0.381;0.083;0.05	B;B;B	0.32533	0.147;0.076;0.035	T	0.41016	-0.9532	8	.	.	.	-25.7687	16.8495	0.85990	0.0:0.0:1.0:0.0	.	712;916;920	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	D	920;916;898;920	.	.	G	+	2	0	SUPT5H	44656821	1.000000	0.71417	0.994000	0.49952	0.483000	0.33249	9.364000	0.97136	2.515000	0.84797	0.462000	0.41574	GGC		PASS	0.637	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		54	60	54	60	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45899466	45899466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:45899466C>T	ENST00000418234.2	-	6	941	c.863G>A	c.(862-864)tGg>tAg	p.W288*	PPP1R13L_ENST00000360957.5_Nonsense_Mutation_p.W288*	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	288	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.W288*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCTCTCCCTCCAAGGCAACAG	0.692																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(862-864)TGG>TAG		protein phosphatase 1, regulatory subunit 13							23.0	26.0	25.0					19																	45899466		2203	4300	6503	SO:0001587	stop_gained	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899466C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.863G>A	19.37:g.45899466C>T	ENSP00000403902:p.Trp288*					PPP1R13L_uc002pbo.2_Nonsense_Mutation_p.W288*|PPP1R13L_uc002pbp.2_Nonsense_Mutation_p.W288*	p.W288*	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	6	940	-		all_neural(266;0.224)|Ovarian(192;0.231)	288			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Nonsense_Mutation	SNP	ENST00000418234.2	37	c.863G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	37	6.262437	0.97421	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	.	.	.	4.86	2.54	0.30619	.	0.288673	0.36409	N	0.002618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	9.4038	0.38449	0.388:0.612:0.0:0.0	.	.	.	.	X	288	.	ENSP00000354218:W288X	W	-	2	0	PPP1R13L	50591306	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.497000	0.45354	1.027000	0.39758	0.313000	0.20887	TGG		PASS	0.692	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		11	11	11	11	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935529	47935529	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:47935529G>T	ENST00000236877.6	-	9	2679	c.2284C>A	c.(2284-2286)Ctc>Atc	p.L762I	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Missense_Mutation_p.L518I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.L225I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	762					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.L762I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGGGCGGTGAGCAGGCCGATG	0.627																																						uc002pgx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2284-2286)CTC>ATC		solute carrier family 8 member 2 precursor							108.0	87.0	94.0					19																	47935529		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935529G>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2284C>A	19.37:g.47935529G>T	ENSP00000236877:p.Leu762Ile					SLC8A2_uc010xyq.1_Missense_Mutation_p.L518I|SLC8A2_uc010xyr.1_Missense_Mutation_p.L225I|SLC8A2_uc010ele.2_Missense_Mutation_p.L762I	p.L762I	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2562	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	762			Helical; (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.2284C>A	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344035	0.82022	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.65916	-0.18;-0.18;-0.18	4.23	3.19	0.36642	Sodium/calcium exchanger membrane region (1);	0.000000	0.64402	D	0.000016	T	0.73426	0.3585	L	0.61036	1.89	0.58432	D	0.999995	D;D	0.76494	0.997;0.999	D;D	0.87578	0.991;0.998	T	0.73541	-0.3950	10	0.46703	T	0.11	.	11.8002	0.52122	0.0945:0.0:0.9055:0.0	.	590;762	E9PGS7;Q9UPR5	.;NAC2_HUMAN	I	590;762;225;518	ENSP00000236877:L762I;ENSP00000440588:L225I;ENSP00000437536:L518I	ENSP00000236877:L762I	L	-	1	0	SLC8A2	52627341	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.723000	0.61965	2.377000	0.81083	0.558000	0.71614	CTC		PASS	0.627	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	109	9	109	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521331	52521331	+	Silent	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:52521331T>C	ENST00000270649.6	-	4	712	c.168A>G	c.(166-168)gtA>gtG	p.V56V	ZNF614_ENST00000356322.6_Silent_p.V56V	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.V56V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACTTGGAGAGTACATCTGGTT	0.398																																						uc002pyj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(166-168)GTA>GTG		zinc finger protein 614							164.0	145.0	151.0					19																	52521331		2203	4300	6503	SO:0001819	synonymous_variant	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52521331T>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.168A>G	19.37:g.52521331T>C						ZNF614_uc002pyi.3_Silent_p.V56V|ZNF614_uc010epj.2_5'UTR	p.V56V	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	570	-		all_neural(266;0.0505)	56			KRAB.		Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	c.168A>G	CCDS12847.1																																																																																				PASS	0.398	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		80	97	80	97	---	---	---	---
SUV420H2	84787	broad.mit.edu	37	19	55853361	55853361	+	Silent	SNP	C	C	A	rs150127456		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:55853361C>A	ENST00000255613.3	+	2	305	c.57C>A	c.(55-57)acC>acA	p.T19T	SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	19					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)	p.T19T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACCTGGCCACCAGCCTCGTCC	0.662																																						uc002qkj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)ACC>ACA		suppressor of variegation 4-20 homolog 2							120.0	102.0	108.0					19																	55853361		2203	4300	6503	SO:0001819	synonymous_variant	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853361C>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.57C>A	19.37:g.55853361C>A						SUV420H2_uc010esx.1_Silent_p.T19T|SUV420H2_uc002qkk.1_Silent_p.T19T|SUV420H2_uc002qkl.2_5'UTR	p.T19T	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	305	+	Breast(117;0.191)		19					Q8WZ10|Q9BRZ6	Silent	SNP	ENST00000255613.3	37	c.57C>A	CCDS12922.1																																																																																				PASS	0.662	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		70	100	70	100	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56320536	56320536	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:56320536C>T	ENST00000589093.1	-	3	1533	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	NLRP11_ENST00000443188.1_Silent_p.E480E|NLRP11_ENST00000589824.2_Silent_p.E480E|NLRP11_ENST00000360133.3_Silent_p.E480E|NLRP11_ENST00000592953.1_Silent_p.E381E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	480							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.E480E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTTCTCTCTTCTCTTTATACT	0.398																																						uc010ygf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1438-1440)GAG>GAA		NLR family, pyrin domain containing 11							95.0	93.0	94.0					19																	56320536		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56320536C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1440G>A	19.37:g.56320536C>T						NLRP11_uc002qlz.2_Silent_p.E381E|NLRP11_uc002qmb.2_Silent_p.E381E|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.E480E	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2151	-		Colorectal(82;0.0002)	480					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.1440G>A	CCDS12935.1																																																																																				PASS	0.398	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		104	156	104	156	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56465914	56465914	+	Missense_Mutation	SNP	A	A	G	rs566456144	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:56465914A>G	ENST00000291971.3	+	3	561	c.490A>G	c.(490-492)Ata>Gta	p.I164V	NLRP8_ENST00000590542.1_Missense_Mutation_p.I164V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	164					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.I164V(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTTTTCCCCATATGGGACAT	0.438													A|||	2	0.000399361	0.0	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.002					uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(490-492)ATA>GTA		NLR family, pyrin domain containing 8							103.0	101.0	102.0					19																	56465914		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56465914A>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.490A>G	19.37:g.56465914A>G	ENSP00000291971:p.Ile164Val					NLRP8_uc010etg.2_Missense_Mutation_p.I164V	p.I164V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	561	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	164					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.490A>G	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.324291	0.00018	.	.	ENSG00000179709	ENST00000291971	T	0.73363	-0.74	1.65	-3.3	0.05003	.	.	.	.	.	T	0.46483	0.1395	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.34354	-0.9832	9	0.02654	T	1	.	5.6128	0.17414	0.2657:0.2573:0.477:0.0	.	164;164	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	164	ENSP00000291971:I164V	ENSP00000291971:I164V	I	+	1	0	NLRP8	61157726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.210000	0.09345	-2.740000	0.00379	-1.432000	0.01085	ATA		PASS	0.438	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		92	127	92	127	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089467	57089467	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:57089467G>T	ENST00000330619.8	+	6	2356	c.1670G>T	c.(1669-1671)aGa>aTa	p.R557I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R557I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	557					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.R557I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCACCAGAGAGTTCATACT	0.448																																						uc002qnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1669-1671)AGA>ATA		zinc finger protein 470							96.0	84.0	88.0					19																	57089467		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089467G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1670G>T	19.37:g.57089467G>T	ENSP00000333223:p.Arg557Ile					ZNF470_uc010etn.2_Intron	p.R557I	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2346	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	557			C2H2-type 12.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1670G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765945	0.69878	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.24908	1.83;1.83	4.37	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47746	0.1462	M	0.75264	2.295	0.44754	D	0.99775	D	0.89917	1.0	D	0.87578	0.998	T	0.48281	-0.9049	9	0.66056	D	0.02	.	9.6005	0.39601	0.0982:0.0:0.9018:0.0	.	557	Q6ECI4	ZN470_HUMAN	I	557	ENSP00000375590:R557I;ENSP00000333223:R557I	ENSP00000333223:R557I	R	+	2	0	ZNF470	61781279	0.031000	0.19500	1.000000	0.80357	0.992000	0.81027	2.117000	0.41939	2.272000	0.75746	0.650000	0.86243	AGA		PASS	0.448	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		24	103	24	103	---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967343	57967343	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:57967343C>A	ENST00000321039.3	-	1	511	c.512G>T	c.(511-513)tGt>tTt	p.C171F	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	171					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.C171F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAGGAGACAACAGAAGTCAAT	0.438																																						uc002qos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)TGT>TTT		vomeronasal 1 receptor 1							94.0	86.0	89.0					19																	57967343		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967343C>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.512G>T	19.37:g.57967343C>A	ENSP00000322339:p.Cys171Phe					ZNF547_uc002qpm.3_Intron	p.C171F	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	512	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	171			Helical; Name=4; (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.512G>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	4.057	0.008220	0.07912	.	.	ENSG00000178201	ENST00000321039	T	0.36340	1.26	3.99	-1.55	0.08558	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22781	0.0550	L	0.33792	1.035	0.09310	N	1	B	0.28208	0.203	B	0.25291	0.059	T	0.21793	-1.0235	9	0.36615	T	0.2	.	6.5932	0.22658	0.4311:0.2756:0.2932:0.0	.	171	Q9GZP7	VN1R1_HUMAN	F	171	ENSP00000322339:C171F	ENSP00000322339:C171F	C	-	2	0	VN1R1	62659155	0.017000	0.18338	0.001000	0.08648	0.001000	0.01503	-0.180000	0.09754	0.068000	0.16574	-0.196000	0.12772	TGT		PASS	0.438	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		74	112	74	112	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	368728	368728	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:368728T>C	ENST00000217233.3	+	2	627	c.74T>C	c.(73-75)tTa>tCa	p.L25S	TRIB3_ENST00000485293.1_3'UTR|TRIB3_ENST00000422053.2_Missense_Mutation_p.L52S	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	25	Interaction with DDIT3/CHOP.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|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)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.L25S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GATGACAACTTAGATACCGAG	0.592																																					Melanoma(101;421 2374 19538)	uc002wdm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(73-75)TTA>TCA		tribbles 3							74.0	76.0	75.0					20																	368728		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368728T>C	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.74T>C	20.37:g.368728T>C	ENSP00000217233:p.Leu25Ser					TRIB3_uc002wdn.2_Missense_Mutation_p.L52S	p.L25S	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	580	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	25					Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.74T>C	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	T	9.544	1.114144	0.20795	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.61627	0.83;0.09;0.78	4.49	2.13	0.27403	.	0.382510	0.15649	N	0.251501	T	0.46073	0.1374	L	0.51422	1.61	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.16289	0.015;0.015	T	0.44452	-0.9327	10	0.87932	D	0	-2.2608	4.7121	0.12877	0.1706:0.0987:0.0:0.7307	.	52;25	B4DMM9;Q96RU7	.;TRIB3_HUMAN	S	25;25;52	ENSP00000217233:L25S;ENSP00000391873:L25S;ENSP00000415416:L52S	ENSP00000217233:L25S	L	+	2	0	TRIB3	316728	0.001000	0.12720	0.301000	0.25044	0.012000	0.07955	0.590000	0.23954	1.881000	0.54492	0.459000	0.35465	TTA		PASS	0.592	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		57	152	57	152	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1895862	1895862	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:1895862T>C	ENST00000358771.4	+	2	349	c.197T>C	c.(196-198)aTc>aCc	p.I66T	SIRPA_ENST00000356025.3_Missense_Mutation_p.I66T|SIRPA_ENST00000400068.3_Missense_Mutation_p.I66T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	66	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I66T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGGGCCCATCCAGTGGTTC	0.552																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)ATC>ACC		signal-regulatory protein alpha precursor							51.0	47.0	49.0					20																	1895862		2198	4281	6479	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895862T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.197T>C	20.37:g.1895862T>C	ENSP00000351621:p.Ile66Thr					SIRPA_uc010zps.1_Missense_Mutation_p.I46T|SIRPA_uc002wfr.2_Missense_Mutation_p.I66T|SIRPA_uc002wfs.2_Missense_Mutation_p.I66T|SIRPA_uc002wft.2_Missense_Mutation_p.I66T	p.I66T	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	557	+			66			Ig-like V-type.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.197T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828214	0.71143	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.69685	-0.42;-0.42;-0.42	5.11	5.11	0.69529	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.754939	0.12017	N	0.507304	T	0.81470	0.4829	L	0.58583	1.82	0.09310	N	1	B;B;B	0.24043	0.008;0.026;0.096	P;B;P	0.59424	0.857;0.399;0.857	T	0.73978	-0.3812	10	0.37606	T	0.19	.	11.255	0.49048	0.0:0.0:0.0:1.0	.	46;66;66	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	66	ENSP00000382941:I66T;ENSP00000348307:I66T;ENSP00000351621:I66T	ENSP00000348307:I66T	I	+	2	0	SIRPA	1843862	0.011000	0.17503	0.089000	0.20774	0.381000	0.30169	2.011000	0.40922	2.166000	0.68216	0.454000	0.30748	ATC		PASS	0.552	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		25	110	25	110	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5965480	5965480	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:5965480C>A	ENST00000378896.3	+	15	2164	c.1787C>A	c.(1786-1788)aCt>aAt	p.T596N	MCM8_ENST00000378886.2_Missense_Mutation_p.T636N|MCM8_ENST00000378883.1_Missense_Mutation_p.T549N|MCM8_ENST00000265187.4_Missense_Mutation_p.T580N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	596	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T580N(1)|p.T596N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CTGTTAGATACTCCAAATGAG	0.388																																						uc002wmi.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1786-1788)ACT>AAT		minichromosome maintenance complex component 8							165.0	153.0	157.0					20																	5965480		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965480C>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1787C>A	20.37:g.5965480C>A	ENSP00000368174:p.Thr596Asn					MCM8_uc002wmj.2_Missense_Mutation_p.T580N|MCM8_uc002wmk.2_Missense_Mutation_p.T636N|MCM8_uc002wml.2_Missense_Mutation_p.T596N|MCM8_uc010gbp.2_Missense_Mutation_p.T549N|MCM8_uc002wmm.2_Missense_Mutation_p.T134N	p.T596N	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			15	2164	+			596			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1787C>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028748	0.35797	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);	0.046522	0.85682	D	0.000000	T	0.09379	0.0231	L	0.28504	0.86	0.53688	D	0.999977	B;B;B;B	0.17465	0.004;0.022;0.003;0.005	B;B;B;B	0.18263	0.012;0.021;0.012;0.021	T	0.25710	-1.0124	10	0.20046	T	0.44	-14.1967	14.5371	0.67969	0.0:0.9301:0.0:0.0699	.	549;636;580;596	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	596;549;636;580	ENSP00000368174:T596N;ENSP00000368161:T549N;ENSP00000368164:T636N;ENSP00000265187:T580N	ENSP00000265187:T580N	T	+	2	0	MCM8	5913480	1.000000	0.71417	0.907000	0.35723	0.960000	0.62799	4.374000	0.59543	2.894000	0.99253	0.591000	0.81541	ACT		PASS	0.388	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		67	188	67	188	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866512	7866512	+	Splice_Site	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:7866512C>A	ENST00000378789.3	-	6	865		c.e6-1			NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1						cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAACATCAATCTGGGGAAAGA	0.468																																						uc002wmw.1																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e6-1		hydroxyacid oxidase 1							75.0	76.0	76.0					20																	7866512		2203	4300	6503	SO:0001630	splice_region_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866512C>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.814-1G>T	20.37:g.7866512C>A						HAO1_uc010gbu.2_Splice_Site_p.I272_splice	p.I272_splice	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			6	838	-								Q14CQ0|Q9UPZ0|Q9Y3I7	Splice_Site	SNP	ENST00000378789.3	37	c.814_splice	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648585	0.87958	.	.	ENSG00000101323	ENST00000378789	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3523	0.98815	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HAO1	7814512	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.456000	0.80751	2.821000	0.97095	0.484000	0.47621	.		PASS	0.468	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		Intron	49	188	49	188	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13415742	13415742	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:13415742A>T	ENST00000337743.4	-	12	1165	c.1045T>A	c.(1045-1047)Tgc>Agc	p.C349S	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_3'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	349					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.C349S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GAACATCTGCATGAACGGAGG	0.428																																						uc002woi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)TGC>AGC		taspase 1 precursor							67.0	57.0	60.0					20																	13415742		2203	4299	6502	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13415742A>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1045T>A	20.37:g.13415742A>T	ENSP00000338624:p.Cys349Ser					TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.C326S	p.C349S	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			12	1162	-			349					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.1045T>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	A	3.607	-0.080426	0.07141	.	.	ENSG00000089123	ENST00000337743	D	0.91894	-2.93	5.84	4.72	0.59763	.	0.084815	0.85682	D	0.000000	D	0.85927	0.5811	L	0.36672	1.1	0.80722	D	1	B	0.33694	0.421	B	0.32980	0.156	T	0.80487	-0.1361	10	0.09338	T	0.73	-0.9288	12.2063	0.54355	0.8572:0.1428:0.0:0.0	.	349	Q9H6P5	TASP1_HUMAN	S	349	ENSP00000338624:C349S	ENSP00000338624:C349S	C	-	1	0	TASP1	13363742	1.000000	0.71417	0.945000	0.38365	0.276000	0.26787	4.805000	0.62561	1.000000	0.39049	0.533000	0.62120	TGC		PASS	0.428	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		9	29	9	29	---	---	---	---
ZNF133	7692	broad.mit.edu	37	20	18296593	18296593	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:18296593G>A	ENST00000316358.4	+	4	1195	c.1098G>A	c.(1096-1098)agG>agA	p.R366R	ZNF133_ENST00000377671.3_Silent_p.R365R|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000402618.2_Silent_p.R303R|ZNF133_ENST00000535822.1_Silent_p.R271R|ZNF133_ENST00000396026.3_Silent_p.R369R|ZNF133_ENST00000401790.1_Silent_p.R366R|ZNF133_ENST00000538547.1_Silent_p.R271R|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	366					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.R365R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCAGCGACAGGTCAAACCTCA	0.587																																						uc010gcq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1096-1098)AGG>AGA		zinc finger protein 133							68.0	62.0	64.0					20																	18296593		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296593G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1098G>A	20.37:g.18296593G>A						ZNF133_uc010zrv.1_Silent_p.R369R|ZNF133_uc010zrw.1_Silent_p.R303R|ZNF133_uc010gcr.2_Silent_p.R366R|ZNF133_uc010zrx.1_Silent_p.R271R|ZNF133_uc002wql.3_Silent_p.R365R|ZNF133_uc010gcs.2_Silent_p.R365R|ZNF133_uc010zry.1_Silent_p.R271R|ZNF133_uc002wqm.2_Silent_p.R366R	p.R366R	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	1403	+			366			C2H2-type 6.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1098G>A																																																																																					PASS	0.587	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		14	50	14	50	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25193991	25193991	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:25193991A>T	ENST00000376652.4	+	5	709	c.546A>T	c.(544-546)acA>acT	p.T182T	ENTPD6_ENST00000360031.2_Silent_p.T181T|ENTPD6_ENST00000433259.2_Silent_p.T182T|ENTPD6_ENST00000354989.5_Silent_p.T165T|Y_RNA_ENST00000365544.1_RNA			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	182					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.T182T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TCAAGGCCACAGCTGGCTTAC	0.567																																						uc002wuj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)ACA>ACT		ectonucleoside triphosphate diphosphohydrolase 6							124.0	96.0	106.0					20																	25193991		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25193991A>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.546A>T	20.37:g.25193991A>T						ENTPD6_uc010zsy.1_Silent_p.T182T|ENTPD6_uc010gdj.1_Silent_p.T154T|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Silent_p.T165T|ENTPD6_uc010zta.1_Silent_p.T182T|ENTPD6_uc002wun.2_Silent_p.T182T|ENTPD6_uc002wuk.2_Silent_p.T181T|ENTPD6_uc002wul.2_Silent_p.T181T|ENTPD6_uc010ztb.1_Silent_p.T154T|ENTPD6_uc010ztc.1_Silent_p.T154T|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010ztd.1_5'UTR	p.T182T	NM_001247	NP_001238	O75354	ENTP6_HUMAN			5	726	+			182			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.546A>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.36|11.36	1.615882|1.615882	0.28801|0.28801	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000376666	.|.	.|.	.|.	5.79|5.79	-0.851|-0.851	0.10716|0.10716	.|.	.|.	.|.	.|.	.|.	T|T	0.42245|0.42245	0.1194|0.1194	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22277|0.22277	-1.0221|-1.0221	4|4	.|.	.|.	.|.	-15.8915|-15.8915	2.5977|2.5977	0.04858|0.04858	0.3028:0.3795:0.0723:0.2454|0.3028:0.3795:0.0723:0.2454	.|.	.|.	.|.	.|.	L|C	103;75|6	.|.	.|.	Q|S	+|+	2|1	0|0	ENTPD6|ENTPD6	25141991|25141991	0.958000|0.958000	0.32768|0.32768	0.988000|0.988000	0.46212|0.46212	0.974000|0.974000	0.67602|0.67602	0.083000|0.083000	0.14871|0.14871	-0.450000|-0.450000	0.07107|0.07107	-0.461000|-0.461000	0.05368|0.05368	CAG|AGC		PASS	0.567	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			42	127	42	127	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33880012	33880012	+	Silent	SNP	C	C	G	rs532296319		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:33880012C>G	ENST00000374408.3	-	1	192	c.96G>C	c.(94-96)cgG>cgC	p.R32R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	32								p.R32R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTGAGCTCTCCCGCCACCACG	0.746																																						uc010zux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(94-96)CGG>CGC		hypothetical protein LOC128876							8.0	8.0	8.0					20																	33880012		1759	3572	5331	SO:0001819	synonymous_variant	128876							g.chr20:33880012C>G	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.96G>C	20.37:g.33880012C>G						FAM83C_uc002xcb.1_5'UTR	p.R32R	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	214	-			32					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.96G>C	CCDS13251.1																																																																																				PASS	0.746	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			2	4	2	4	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47292764	47292764	+	Silent	SNP	G	G	A	rs373526526		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:47292764G>A	ENST00000371941.3	-	14	1654	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	PREX1_ENST00000396220.1_Silent_p.P544P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	544	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P544P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTTGCTCCCGGGAAGCACTG	0.607																																						uc002xtw.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(1630-1632)CCC>CCT		phosphatidylinositol-3,4,		G		0,4406		0,0,2203	153.0	127.0	136.0		1632	-10.0	0.1	20		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREX1	NM_020820.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		544/1660	47292764	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47292764G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1632C>T	20.37:g.47292764G>A							p.P544P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		14	1655	-			544			DEP 2.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1632C>T	CCDS13410.1																																																																																				PASS	0.607	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		24	153	24	153	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50221365	50221365	+	Nonsense_Mutation	SNP	C	C	A	rs571946490		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:50221365C>A	ENST00000338821.5	-	27	3262	c.2998G>T	c.(2998-3000)Gag>Tag	p.E1000*	ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E864*|ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E879*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	1000					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E1000*(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCGATGAACTCGTGTAAGAAC	0.597																																						uc002xwg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(2998-3000)GAG>TAG		ATPase, class II, type 9A							40.0	34.0	36.0					20																	50221365		2203	4300	6503	SO:0001587	stop_gained	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50221365C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2998G>T	20.37:g.50221365C>A	ENSP00000342481:p.Glu1000*					ATP9A_uc010gih.1_Nonsense_Mutation_p.E864*|ATP9A_uc002xwf.1_Nonsense_Mutation_p.E172*	p.E1000*	NM_006045	NP_006036	O75110	ATP9A_HUMAN			27	2998	-			1000			Extracellular (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	ENST00000338821.5	37	c.2998G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	43	10.356490	0.99390	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	4.91	4.91	0.64330	.	0.102570	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-27.7183	18.1138	0.89543	0.0:1.0:0.0:0.0	.	.	.	.	X	864;1000;879	.	ENSP00000309086:E864X	E	-	1	0	ATP9A	49654772	1.000000	0.71417	0.774000	0.31636	0.854000	0.48673	7.707000	0.84623	2.261000	0.74972	0.655000	0.94253	GAG		PASS	0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		8	31	8	31	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027180	55027180	+	Silent	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:55027180A>T	ENST00000360314.3	+	6	1173	c.948A>T	c.(946-948)gtA>gtT	p.V316V	CASS4_ENST00000371336.3_Silent_p.V316V|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	316					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V316V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCTTTCTTGTACCCAGAGGCA	0.458																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(946-948)GTA>GTT		HEF-like protein isoform a							62.0	60.0	61.0					20																	55027180		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027180A>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.948A>T	20.37:g.55027180A>T						CASS4_uc002xxq.3_Silent_p.V316V|CASS4_uc002xxr.2_Silent_p.V316V|CASS4_uc010zze.1_Silent_p.V262V|CASS4_uc010gio.2_Intron	p.V316V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1173	+			316					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.948A>T	CCDS33492.1																																																																																				PASS	0.458	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		18	91	18	91	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027972	55027972	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:55027972C>T	ENST00000360314.3	+	6	1965	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	CASS4_ENST00000371336.3_Silent_p.V580V|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	580					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V580V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTCCATTGTCATTGCCAATG	0.463																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1738-1740)GTC>GTT		HEF-like protein isoform a							78.0	76.0	76.0					20																	55027972		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027972C>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1740C>T	20.37:g.55027972C>T						CASS4_uc002xxq.3_Silent_p.V580V|CASS4_uc002xxr.2_Silent_p.V580V|CASS4_uc010zze.1_Silent_p.V526V|CASS4_uc010gio.2_Intron	p.V580V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1965	+			580					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.1740C>T	CCDS33492.1																																																																																				PASS	0.463	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		25	69	25	69	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57767486	57767486	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:57767486G>T	ENST00000371030.2	+	1	1412	c.1412G>T	c.(1411-1413)cGc>cTc	p.R471L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	471							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R471L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCCCGTGCGCTCCACCTGG	0.672																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(1411-1413)CGC>CTC		zinc finger protein 831							33.0	40.0	38.0					20																	57767486		2006	4167	6173	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767486G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1412G>T	20.37:g.57767486G>T	ENSP00000360069:p.Arg471Leu						p.R471L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1412	+	all_lung(29;0.0085)		471					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1412G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165833	0.38217	.	.	ENSG00000124203	ENST00000371030	T	0.04551	3.6	5.21	0.192	0.15134	.	.	.	.	.	T	0.04407	0.0121	L	0.51422	1.61	0.09310	N	0.999999	B	0.20052	0.041	B	0.18561	0.022	T	0.43653	-0.9378	9	0.37606	T	0.19	-3.2429	1.08	0.01641	0.1844:0.3448:0.2795:0.1913	.	471	Q5JPB2	ZN831_HUMAN	L	471	ENSP00000360069:R471L	ENSP00000360069:R471L	R	+	2	0	ZNF831	57200881	0.002000	0.14202	0.009000	0.14445	0.388000	0.30384	1.463000	0.35277	0.159000	0.19401	0.655000	0.94253	CGC		PASS	0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		8	42	8	42	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525489	61525489	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr20:61525489G>A	ENST00000266070.4	-	12	2955	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S877F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S877F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S877F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	877					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S877F(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTCTTAACAGAAGCTGACAA	0.512																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2629-2631)TCT>TTT		death inducer-obliterator 1 isoform c							101.0	116.0	111.0					20																	61525489		2202	4297	6499	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525489G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2630C>T	20.37:g.61525489G>A	ENSP00000266070:p.Ser877Phe					DIDO1_uc002yds.1_Missense_Mutation_p.S877F|DIDO1_uc002ydt.1_Missense_Mutation_p.S877F|DIDO1_uc002ydu.1_Missense_Mutation_p.S877F	p.S877F	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			12	2894	-	Breast(26;5.68e-08)		877					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2630C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566420	0.65651	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.95;2.95;2.62;2.62	6.02	5.08	0.68730	.	0.170234	0.28114	N	0.016555	T	0.28300	0.0699	M	0.64997	1.995	0.80722	D	1	B;D	0.61080	0.055;0.989	B;P	0.55667	0.05;0.781	T	0.02075	-1.1218	10	0.72032	D	0.01	-22.1233	13.6724	0.62434	0.071:0.0:0.929:0.0	.	877;877	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	877	ENSP00000266070:S877F;ENSP00000378752:S877F;ENSP00000378749:S877F;ENSP00000378744:S877F	ENSP00000266070:S877F	S	-	2	0	DIDO1	60995934	0.970000	0.33590	0.003000	0.11579	0.004000	0.04260	6.170000	0.71920	1.570000	0.49709	0.655000	0.94253	TCT		PASS	0.512	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		56	143	56	143	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10920131	10920131	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:10920131C>G	ENST00000361285.4	-	19	1452	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D337H|TPTE_ENST00000298232.7_Missense_Mutation_p.D357H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	375	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D357H(1)|p.D375H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGTTTTATCTGTTCGCCTT	0.383																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1123-1125)GAT>CAT		transmembrane phosphatase with tensin homology							102.0	96.0	98.0					21																	10920131		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920131C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1123G>C	21.37:g.10920131C>G	ENSP00000355208:p.Asp375His					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D357H|TPTE_uc002yir.1_Missense_Mutation_p.D337H|TPTE_uc010gkv.1_Missense_Mutation_p.D237H	p.D375H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1491	-			375			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1123G>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.730	1.161897	0.21538	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85484	-1.99;-1.99;-1.99	2.32	2.32	0.28847	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.051821	0.85682	D	0.000000	D	0.83459	0.5259	L	0.58302	1.8	0.50313	D	0.999866	P;P;B	0.37083	0.581;0.581;0.27	P;P;B	0.44772	0.46;0.46;0.27	T	0.81788	-0.0772	10	0.48119	T	0.1	-12.9177	8.1818	0.31315	0.0:1.0:0.0:0.0	.	337;357;375	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	357;375;337	ENSP00000298232:D357H;ENSP00000355208:D375H;ENSP00000344441:D337H	ENSP00000298232:D357H	D	-	1	0	TPTE	9942002	1.000000	0.71417	0.913000	0.36048	0.116000	0.19942	4.310000	0.59141	1.313000	0.45069	0.184000	0.17185	GAT		PASS	0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			15	140	15	140	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10943022	10943022	+	Splice_Site	SNP	T	T	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:10943022T>C	ENST00000361285.4	-	12	896		c.e12-2		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTCCATCTAAGAATAAAT	0.313																																						uc002yip.1																			2	Unknown(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e12-1		transmembrane phosphatase with tensin homology							54.0	51.0	52.0					21																	10943022		2203	4298	6501	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10943022T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.567-2A>G	21.37:g.10943022T>C						TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.R171_splice|TPTE_uc002yir.1_Splice_Site_p.R151_splice|TPTE_uc010gkv.1_Splice_Site_p.R51_splice	p.R189_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	935	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.567_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.527	1.109811	0.20714	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0889	0.30788	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9964893	0.999000	0.42202	0.072000	0.20136	0.023000	0.10783	3.168000	0.50801	1.204000	0.43247	0.163000	0.16589	.		PASS	0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	6	69	6	69	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802740	31802740	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:31802740G>A	ENST00000334068.2	+	1	169	c.147G>A	c.(145-147)agG>agA	p.R49R		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	49	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.R49R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCTCTACAGGGACTGTCAGA	0.627																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)AGG>AGA		keratin associated protein 13-4							64.0	66.0	65.0					21																	31802740		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802740G>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.147G>A	21.37:g.31802740G>A							p.R49R	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	147	+			49			1.|4 X 10 AA approximate repeats.		A2RRL3	Silent	SNP	ENST00000334068.2	37	c.147G>A	CCDS13592.1																																																																																				PASS	0.627	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			19	77	19	77	---	---	---	---
KRTAP6-1	337966	broad.mit.edu	37	21	31986073	31986073	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:31986073A>T	ENST00000329122.2	-	1	176	c.151T>A	c.(151-153)Tat>Aat	p.Y51N	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	51						cytosol (GO:0005829)|intermediate filament (GO:0005882)		p.Y51N(1)		breast(2)|endometrium(1)|lung(7)	10						CGGGAGCCATAGCCATAGCCA	0.597																																						uc002yop.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)TAT>AAT		keratin associated protein 6-1							117.0	122.0	120.0					21																	31986073		2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986073A>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.151T>A	21.37:g.31986073A>T	ENSP00000332690:p.Tyr51Asn					KRTAP20-1_uc011ade.1_5'Flank	p.Y51N	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			1	151	-			51						Missense_Mutation	SNP	ENST00000329122.2	37	c.151T>A	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	A	5.494	0.276180	0.10403	.	.	ENSG00000184724	ENST00000329122	T	0.27720	1.65	4.95	-0.652	0.11450	.	0.239143	0.21027	U	0.081420	T	0.17066	0.0410	.	.	.	0.20403	N	0.9999	B	0.06786	0.001	B	0.08055	0.003	T	0.15492	-1.0435	9	0.87932	D	0	.	1.9344	0.03333	0.5121:0.1379:0.0818:0.2682	.	51	Q3LI64	KRA61_HUMAN	N	51	ENSP00000332690:Y51N	ENSP00000332690:Y51N	Y	-	1	0	KRTAP6-1	30907944	0.727000	0.28069	0.076000	0.20297	0.284000	0.27059	2.456000	0.44997	0.087000	0.17167	-0.350000	0.07774	TAT		PASS	0.597	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		16	69	16	69	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47841961	47841961	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:47841961C>T	ENST00000359568.5	+	32	7209	c.7102C>T	c.(7102-7104)Cct>Tct	p.P2368S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2368					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P2368S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTGTGACCCCTGCTTCCAT	0.612																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(7102-7104)CCT>TCT		pericentrin							70.0	72.0	71.0					21																	47841961		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47841961C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7102C>T	21.37:g.47841961C>T	ENSP00000352572:p.Pro2368Ser					PCNT_uc002zjj.2_Missense_Mutation_p.P2250S	p.P2368S	NM_006031	NP_006022	O95613	PCNT_HUMAN			32	7209	+	Breast(49;0.112)		2368					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7102C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114460	0.37339	.	.	ENSG00000160299	ENST00000359568	T	0.01516	4.81	3.93	-2.68	0.06041	.	.	.	.	.	T	0.01558	0.0050	L	0.51422	1.61	0.09310	N	1	B;P	0.44816	0.123;0.844	B;B	0.39904	0.026;0.313	T	0.42172	-0.9467	9	0.18276	T	0.48	.	2.0718	0.03615	0.1489:0.2253:0.4238:0.202	.	2250;2368	O95613-2;O95613	.;PCNT_HUMAN	S	2368	ENSP00000352572:P2368S	ENSP00000352572:P2368S	P	+	1	0	PCNT	46666389	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.138000	0.10374	-0.448000	0.07128	0.467000	0.42956	CCT		PASS	0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		23	77	23	77	---	---	---	---
PRMT2	3275	broad.mit.edu	37	21	48068369	48068369	+	Splice_Site	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr21:48068369G>T	ENST00000397637.1	+	5	1281		c.e5-1		PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Splice_Site|PRMT2_ENST00000440086.1_Splice_Site|PRMT2_ENST00000291705.6_Splice_Site|PRMT2_ENST00000451211.2_Splice_Site|PRMT2_ENST00000334494.4_Splice_Site|PRMT2_ENST00000397638.2_Splice_Site|PRMT2_ENST00000397628.1_Splice_Site|PRMT2_ENST00000355680.3_Splice_Site			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.?(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		ATTTCTTCCAGAAACTCCACT	0.502																																						uc002zjx.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e6-1		HMT1 hnRNP methyltransferase-like 1							95.0	83.0	87.0					21																	48068369		2203	4300	6503	SO:0001630	splice_region_variant	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48068369G>T	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.328-1G>T	21.37:g.48068369G>T						PRMT2_uc002zjw.2_Splice_Site_p.K110_splice|PRMT2_uc002zjy.2_Splice_Site_p.K110_splice|PRMT2_uc010gqm.2_Splice_Site_p.K110_splice|PRMT2_uc011aga.1_Splice_Site_p.K110_splice|PRMT2_uc011agb.1_Splice_Site_p.K110_splice|PRMT2_uc011agc.1_Splice_Site_p.K110_splice|PRMT2_uc002zjz.1_Splice_Site	p.K110_splice	NM_206962	NP_996845	P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	6	642	+	Breast(49;0.247)	Lung NSC(3;0.245)						B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Splice_Site	SNP	ENST00000397637.1	37	c.328_splice	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502101	0.64298	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000458387;ENST00000451211;ENST00000291705;ENST00000397637;ENST00000334494;ENST00000397628;ENST00000440086;ENST00000455177	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4951	0.84237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT2	46892797	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	7.020000	0.76419	2.579000	0.87056	0.655000	0.94253	.		PASS	0.502	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535	Intron	16	51	16	51	---	---	---	---
ZDHHC8	29801	broad.mit.edu	37	22	20132768	20132768	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:20132768A>T	ENST00000334554.7	+	11	2284	c.2143A>T	c.(2143-2145)Aag>Tag	p.K715*	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.K623*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	715					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K715*(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCTCAGCTGAAGACTCCCCC	0.632																																						uc002zrq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2143-2145)AAG>TAG		zinc finger, DHHC domain containing 8							158.0	162.0	161.0					22																	20132768		2203	4300	6503	SO:0001587	stop_gained	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20132768A>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2143A>T	22.37:g.20132768A>T	ENSP00000334490:p.Lys715*					ZDHHC8_uc002zrr.1_Intron|ZDHHC8_uc010gsa.2_Nonsense_Mutation_p.K521*	p.K715*	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			11	2249	+	Colorectal(54;0.0993)		715			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Nonsense_Mutation	SNP	ENST00000334554.7	37	c.2143A>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	40	8.331994	0.98764	.	.	ENSG00000099904	ENST00000334554;ENST00000320602	.	.	.	5.06	5.06	0.68205	.	1.011550	0.07941	N	0.979297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.149	0.72681	1.0:0.0:0.0:0.0	.	.	.	.	X	715;623	.	ENSP00000317804:K623X	K	+	1	0	ZDHHC8	18512768	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.772000	0.75001	2.053000	0.61076	0.451000	0.29950	AAG		PASS	0.632	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		55	274	55	274	---	---	---	---
SLC2A11	66035	broad.mit.edu	37	22	24224728	24224728	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:24224728C>T	ENST00000345044.6	+	7	1036	c.768C>T	c.(766-768)tgC>tgT	p.C256C	RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000398356.2_Silent_p.C263C|SLC2A11_ENST00000316185.8_Silent_p.C259C|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	256					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.C263C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GCCAGGGCTGCCGTGCCCGGC	0.701																																						uc002zyn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(766-768)TGC>TGT		glucose transporter protein 10 isoform c							12.0	13.0	12.0					22																	24224728		2197	4291	6488	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24224728C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.768C>T	22.37:g.24224728C>T						SLC2A11_uc002zyl.1_Silent_p.C263C|SLC2A11_uc002zym.3_Silent_p.C263C|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.C263C|SLC2A11_uc002zyp.3_Silent_p.C259C	p.C256C	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN			7	867	+			256			Cytoplasmic (Potential).		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.768C>T	CCDS46673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.39|12.39	1.923032|1.923032	0.33908|0.33908	.|.	.|.	ENSG00000251357|ENSG00000133460	ENST00000502845|ENST00000398363	.|.	.|.	.|.	3.88|3.88	-2.35|-2.35	0.06684|0.06684	.|.	.|.	.|.	.|.	.|.	T|T	0.37785|0.37785	0.1016|0.1016	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46233|0.46233	-0.9206|-0.9206	4|5	.|0.72032	.|D	.|0.01	.|.	6.2299|6.2299	0.20728|0.20728	0.0:0.3342:0.3501:0.3157|0.0:0.3342:0.3501:0.3157	.|.	.|.	.|.	.|.	V|S	28|207	.|.	.|ENSP00000381404:P207S	A|P	+|+	2|1	0|0	AP000350.10|SLC2A11	22554728|22554728	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.913000|0.913000	0.28611|0.28611	-0.076000|-0.076000	0.12775|0.12775	0.597000|0.597000	0.82753|0.82753	GCC|CCG		PASS	0.701	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	17	4	17	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24579183	24579183	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:24579183G>T	ENST00000358321.3	+	2	496	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	79					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.V79L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGGACTTTGTGGTGCGGCA	0.637																																						uc002zzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)GTG>TTG		sushi domain containing 2 precursor							61.0	58.0	59.0					22																	24579183		2203	4297	6500	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579183G>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.235G>T	22.37:g.24579183G>T	ENSP00000351075:p.Val79Leu						p.V79L	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			2	279	+			79			Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.235G>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278230	0.23307	.	.	ENSG00000099994	ENST00000358321	T	0.72615	-0.67	3.86	2.82	0.32997	.	0.584387	0.16770	N	0.200239	T	0.59197	0.2176	L	0.52364	1.645	0.21473	N	0.999678	B	0.29378	0.243	B	0.28991	0.097	T	0.47222	-0.9134	10	0.30078	T	0.28	-17.7666	5.613	0.17416	0.1089:0.2044:0.6867:0.0	.	79	Q9UGT4	SUSD2_HUMAN	L	79	ENSP00000351075:V79L	ENSP00000351075:V79L	V	+	1	0	SUSD2	22909183	0.006000	0.16342	0.124000	0.21820	0.616000	0.37450	-0.057000	0.11768	0.993000	0.38866	0.449000	0.29647	GTG		PASS	0.637	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	68	9	68	---	---	---	---
TMEM211	255349	broad.mit.edu	37	22	25331384	25331384	+	Silent	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:25331384G>A	ENST00000423535.1	-	3	518	c.519C>T	c.(517-519)ccC>ccT	p.P173P	TMEM211_ENST00000382744.1_Silent_p.P102P|TMEM211_ENST00000407886.1_Silent_p.P102P			Q6ICI0	TM211_HUMAN	transmembrane protein 211	173						integral component of membrane (GO:0016021)		p.P102P(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGTTGTGTGGGGCCAGCTGA	0.522																																						uc003abk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)CCC>CCT		transmembrane protein 211							95.0	87.0	89.0					22																	25331384		2203	4300	6503	SO:0001819	synonymous_variant	255349					integral to membrane		g.chr22:25331384G>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.519C>T	22.37:g.25331384G>A							p.P102P	NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN			3	331	-			173						Silent	SNP	ENST00000423535.1	37	c.306C>T																																																																																					PASS	0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		18	92	18	92	---	---	---	---
C22orf42	150297	broad.mit.edu	37	22	32546983	32546983	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:32546983G>T	ENST00000382097.3	-	6	561	c.489C>A	c.(487-489)gaC>gaA	p.D163E	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	163								p.D163E(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ACGTACGGTGGTCGTGCTTGG	0.378																																						uc003amd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(487-489)GAC>GAA		chromosome 22 open reading frame 42							64.0	69.0	68.0					22																	32546983		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546983G>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.489C>A	22.37:g.32546983G>T	ENSP00000371529:p.Asp163Glu						p.D163E	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			6	530	-			163					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.489C>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794253	0.02862	.	.	ENSG00000205856	ENST00000382097	T	0.33654	1.4	0.859	-0.426	0.12314	.	.	.	.	.	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	P	0.40909	0.732	B	0.31101	0.124	T	0.13495	-1.0507	9	0.87932	D	0	.	3.7192	0.08449	0.0:0.0:0.4494:0.5506	.	163	Q6IC83	CV042_HUMAN	E	163	ENSP00000371529:D163E	ENSP00000371529:D163E	D	-	3	2	C22orf42	30876983	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.839000	0.04368	-0.190000	0.10465	-0.534000	0.04291	GAC		PASS	0.378	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		40	63	40	63	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38122339	38122339	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:38122339G>C	ENST00000406386.3	+	7	4031	c.3776G>C	c.(3775-3777)gGg>gCg	p.G1259A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1259					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.G1259A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCTCCCGGGGAGACCAGG	0.721																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3775-3777)GGG>GCG		TRIO and F-actin binding protein isoform 6							16.0	22.0	20.0					22																	38122339		1912	4074	5986	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38122339G>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3776G>C	22.37:g.38122339G>C	ENSP00000384312:p.Gly1259Ala					TRIOBP_uc003atu.2_Missense_Mutation_p.G1087A|TRIOBP_uc003atq.1_Missense_Mutation_p.G1259A|TRIOBP_uc003ats.1_Missense_Mutation_p.G1087A	p.G1259A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	4047	+	Melanoma(58;0.0574)		1259					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3776G>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691301	0.68271	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.63417	-0.04	4.93	4.93	0.64822	.	.	.	.	.	T	0.56016	0.1957	L	0.29908	0.895	0.80722	D	1	D	0.52996	0.957	P	0.47981	0.563	T	0.56098	-0.8035	9	0.37606	T	0.19	.	13.7172	0.62705	0.0:0.0:1.0:0.0	.	1259	Q9H2D6	TARA_HUMAN	A	1259	ENSP00000384312:G1259A	ENSP00000384312:G1259A	G	+	2	0	TRIOBP	36452285	1.000000	0.71417	0.969000	0.41365	0.769000	0.43574	4.489000	0.60309	2.306000	0.77630	0.456000	0.33151	GGG		PASS	0.721	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			12	26	12	26	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38529009	38529009	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr22:38529009C>A	ENST00000332509.3	-	7	1089	c.906G>T	c.(904-906)atG>atT	p.M302I	PLA2G6_ENST00000335539.3_Missense_Mutation_p.M302I|PLA2G6_ENST00000402064.1_Missense_Mutation_p.M302I	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	302					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.M302I(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTTTCAGCAGCATGCGGGCCA	0.662																																						uc003auy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(904-906)ATG>ATT		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						45.0	31.0	36.0					22																	38529009		2194	4287	6481	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38529009C>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.906G>T	22.37:g.38529009C>A	ENSP00000333142:p.Met302Ile					PLA2G6_uc003auz.1_Missense_Mutation_p.M302I|PLA2G6_uc003ava.1_Missense_Mutation_p.M302I|PLA2G6_uc003avb.2_Missense_Mutation_p.M302I|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.M267I	p.M302I	NM_003560	NP_003551	O60733	PA2G6_HUMAN			7	1042	-	Melanoma(58;0.045)		302			ANK 5.		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.906G>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.746373|2.746373	0.49257|0.49257	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427114;ENST00000427453;ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	.|T;T;T	.|0.62364	.|0.03;0.03;0.03	5.56|5.56	4.54|4.54	0.55810|0.55810	.|Ankyrin repeat-containing domain (3);	.|0.379178	.|0.29529	.|N	.|0.011884	T|T	0.28499|0.28499	0.0705|0.0705	N|N	0.01417|0.01417	-0.88|-0.88	0.41399|0.41399	D|D	0.98766|0.98766	.|B;B;B	.|0.16166	.|0.016;0.0;0.0	.|B;B;B	.|0.18561	.|0.022;0.001;0.001	T|T	0.23797|0.23797	-1.0178|-1.0178	5|10	.|0.20046	.|T	.|0.44	-21.2295|-21.2295	7.0283|7.0283	0.24952|0.24952	0.1402:0.7195:0.0:0.1403|0.1402:0.7195:0.0:0.1403	.|.	.|267;302;302	.|B7Z6K3;O60733-2;O60733	.|.;.;PA2G6_HUMAN	F|I	107;54;133|302;163;302;302;230;302;267	.|ENSP00000333142:M302I;ENSP00000335149:M302I;ENSP00000386100:M302I	.|ENSP00000333142:M302I	C|M	-|-	2|3	0|0	PLA2G6|PLA2G6	36858955|36858955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.649000|2.649000	0.46656|0.46656	2.620000|2.620000	0.88729|0.88729	0.650000|0.650000	0.86243|0.86243	TGC|ATG		PASS	0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		3	3	3	3	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17746069	17746069	+	Silent	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:17746069C>T	ENST00000380060.3	+	6	4118	c.3780C>T	c.(3778-3780)cgC>cgT	p.R1260R	NHS_ENST00000398097.3_Silent_p.R1104R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1281					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R1104R(1)|p.R1260R(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGCTGCCCGCCCAAATGATT	0.478																																						uc004cxx.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3778-3780)CGC>CGT		Nance-Horan syndrome protein isoform 1							72.0	72.0	72.0					X																	17746069		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17746069C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3780C>T	X.37:g.17746069C>T						NHS_uc011mix.1_Silent_p.R1281R|NHS_uc004cxy.2_Silent_p.R1104R|NHS_uc004cxz.2_Silent_p.R1083R|NHS_uc004cya.2_Silent_p.R983R	p.R1260R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	4118	+	Hepatocellular(33;0.183)		1260					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.3780C>T	CCDS14181.1																																																																																				PASS	0.478	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		64	65	64	65	---	---	---	---
SMS	6611	broad.mit.edu	37	X	21990682	21990682	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:21990682G>A	ENST00000404933.2	+	4	574	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.V12M|SMS_ENST00000379404.1_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	108					cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.V12M(1)|p.V108M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TACTGGGCGGGTGAAACGGTA	0.398																																						uc004dag.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(322-324)GTG>ATG		spermine synthase	Spermine(DB00127)						70.0	63.0	65.0					X																	21990682		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21990682G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.322G>A	X.37:g.21990682G>A	ENSP00000385746:p.Val108Met					SMS_uc011mjq.1_Missense_Mutation_p.V12M|SMS_uc004daf.1_Intron	p.V108M	NM_004595	NP_004586	P52788	SPSY_HUMAN			4	423	+			108					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.322G>A	CCDS14203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.95|14.95	2.686979|2.686979	0.48097|0.48097	.|.	.|.	ENSG00000102172|ENSG00000102172	ENST00000457085|ENST00000404933;ENST00000415881	.|D;T	.|0.83506	.|-1.73;-1.18	5.7|5.7	4.76|4.76	0.60689|0.60689	.|.	.|0.288934	.|0.35615	.|N	.|0.003091	T|T	0.78039|0.78039	0.4221|0.4221	L|L	0.50333|0.50333	1.59|1.59	0.33406|0.33406	D|D	0.578016|0.578016	.|B	.|0.32203	.|0.36	.|B	.|0.36134	.|0.218	T|T	0.80975|0.80975	-0.1142|-0.1142	5|10	.|0.34782	.|T	.|0.22	-6.86|-6.86	9.1116|9.1116	0.36732|0.36732	0.0885:0.0:0.7508:0.1607|0.0885:0.0:0.7508:0.1607	.|.	.|108	.|P52788	.|SPSY_HUMAN	D|M	199|108;12	.|ENSP00000385746:V108M;ENSP00000388906:V12M	.|ENSP00000385746:V108M	G|V	+|+	2|1	0|0	SMS|SMS	21900603|21900603	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.405000|0.405000	0.30901|0.30901	2.812000|2.812000	0.47994|0.47994	2.377000|2.377000	0.81083|0.81083	0.600000|0.600000	0.82982|0.82982	GGT|GTG		PASS	0.398	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		14	23	14	23	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962363	34962363	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:34962363T>G	ENST00000329357.5	+	1	1451	c.1415T>G	c.(1414-1416)cTa>cGa	p.L472R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	472								p.L472R(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGACCTAGGAGTTAAT	0.448																																						uc004ddi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1414-1416)CTA>CGA		hypothetical protein LOC170062							130.0	119.0	123.0					X																	34962363		2202	4297	6499	SO:0001583	missense	170062							g.chrX:34962363T>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1415T>G	X.37:g.34962363T>G	ENSP00000328307:p.Leu472Arg						p.L472R	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1433	+			472					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1415T>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	t	7.164	0.586235	0.13749	.	.	ENSG00000189132	ENST00000329357	T	0.48522	0.81	0.235	-0.47	0.12131	.	.	.	.	.	T	0.56819	0.2011	M	0.75264	2.295	0.09310	N	1	D	0.63880	0.993	P	0.59889	0.865	T	0.48525	-0.9028	8	0.51188	T	0.08	.	.	.	.	.	472	Q8NA70	FA47B_HUMAN	R	472	ENSP00000328307:L472R	ENSP00000328307:L472R	L	+	2	0	FAM47B	34872284	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.628000	0.05515	-0.865000	0.04073	-0.887000	0.02937	CTA		PASS	0.448	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		68	79	68	79	---	---	---	---
ERAS	3266	broad.mit.edu	37	X	48687603	48687603	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:48687603G>A	ENST00000338270.1	+	1	321	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	24					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.E24K(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CTTCCAGGGGGAAACCCACCG	0.657																																						uc004dky.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)	5						c.(70-72)GAA>AAA		ES cell expressed Ras precursor							23.0	17.0	19.0					X																	48687603		2200	4298	6498	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687603G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.70G>A	X.37:g.48687603G>A	ENSP00000339136:p.Glu24Lys						p.E24K	NM_181532	NP_853510	Q7Z444	RASE_HUMAN			1	321	+			24						Missense_Mutation	SNP	ENST00000338270.1	37	c.70G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	14.69	2.610239	0.46527	.	.	ENSG00000187682	ENST00000338270	T	0.70986	-0.53	3.86	2.99	0.34606	.	0.781386	0.10432	N	0.675393	T	0.56426	0.1984	N	0.24115	0.695	0.18873	N	0.999986	B	0.30793	0.295	B	0.29267	0.1	T	0.47129	-0.9141	10	0.41790	T	0.15	.	10.4978	0.44788	0.0:0.2064:0.7936:0.0	.	24	Q7Z444	RASE_HUMAN	K	24	ENSP00000339136:E24K	ENSP00000339136:E24K	E	+	1	0	ERAS	48572547	0.020000	0.18652	0.035000	0.18076	0.014000	0.08584	0.206000	0.17375	0.988000	0.38734	0.540000	0.68198	GAA		PASS	0.657	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		12	5	12	5	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73962784	73962785	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:73962784_73962785GG>CT	ENST00000055682.6	-	3	2218_2219	c.1607_1608CC>AG	c.(1606-1608)cCC>cAG	p.P536Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	536					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P536H(1)|p.P536Q(1)|p.P536P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAATAACAGGGGGCTCCTTACG	0.411																																						uc004eby.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1606-1608)CCC>CCG|c.(1606-1608)CCC>CAC		hypothetical protein LOC340533																																				SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962784G>C|g.chrX:73962785G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1607_1608delinsCT	X.37:g.73962784_73962785delinsCT	ENSP00000055682:p.Pro536Gln						p.P536P|p.P536H	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2225|2224	-			536					A7YY87|Q5JUX9|Q8IVE9	Silent|Missense_Mutation	SNP	ENST00000055682.6	37	c.1608C>G|c.1607C>A	CCDS35337.1																																																																																				PASS	0.411	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		61	55|54	61	54	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963889	73963889	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:73963889C>A	ENST00000055682.6	-	3	1114	c.503G>T	c.(502-504)gGt>gTt	p.G168V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	168					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.G168V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTAGATCACCAACTTTCAG	0.448																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(502-504)GGT>GTT		hypothetical protein LOC340533							78.0	65.0	69.0					X																	73963889		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963889C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.503G>T	X.37:g.73963889C>A	ENSP00000055682:p.Gly168Val						p.G168V	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1120	-			168					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.503G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365461	0.24684	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.38722	1.12;1.12	6.08	4.32	0.51571	.	0.979352	0.08413	N	0.949479	T	0.42787	0.1218	L	0.44542	1.39	0.35641	D	0.810951	P	0.44478	0.836	B	0.43251	0.413	T	0.40175	-0.9577	10	0.72032	D	0.01	0.0081	11.9571	0.52986	0.0:0.8572:0.0:0.1428	.	168	Q5QGS0	K2022_HUMAN	V	168	ENSP00000362567:G168V;ENSP00000055682:G168V	ENSP00000055682:G168V	G	-	2	0	KIAA2022	73880614	0.920000	0.31207	0.473000	0.27253	0.998000	0.95712	3.063000	0.49978	0.681000	0.31386	0.600000	0.82982	GGT		PASS	0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		31	47	31	47	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78010584	78010584	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:78010584A>T	ENST00000435339.3	+	2	604	c.218A>T	c.(217-219)gAg>gTg	p.E73V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	73					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.E73V(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATGAGAAGTGAGACTGCTATT	0.383																																						uc010nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(217-219)GAG>GTG		lysophosphatidic acid receptor 4							237.0	195.0	209.0					X																	78010584		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010584A>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.218A>T	X.37:g.78010584A>T	ENSP00000408205:p.Glu73Val						p.E73V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	623	+			73			Cytoplasmic (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.218A>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	6.460	0.453032	0.12283	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.34275	1.37;1.37	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.25426	0.745	0.54753	D	0.999982	D	0.89917	1.0	D	0.81914	0.995	T	0.15292	-1.0442	10	0.25751	T	0.34	.	11.0205	0.47715	1.0:0.0:0.0:0.0	.	73	Q99677	LPAR4_HUMAN	V	73	ENSP00000408205:E73V;ENSP00000362398:E73V	ENSP00000362398:E73V	E	+	2	0	LPAR4	77897240	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.896000	0.75665	1.471000	0.48121	0.345000	0.21793	GAG		PASS	0.383	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		134	145	134	145	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83371242	83371242	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:83371242A>C	ENST00000262752.2	-	12	1010	c.1003T>G	c.(1003-1005)Tgg>Ggg	p.W335G	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W335G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	335	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W335G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTACATCCCAGTCAATATTT	0.254																																						uc004eej.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1003-1005)TGG>GGG		ribosomal protein S6 kinase polypeptide 6							60.0	53.0	56.0					X																	83371242		2202	4289	6491	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83371242A>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1003T>G	X.37:g.83371242A>C	ENSP00000262752:p.Trp335Gly					RPS6KA6_uc011mqt.1_Missense_Mutation_p.W335G|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W232G	p.W335G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			12	1080	-			335			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1003T>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559530	0.65538	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58060	0.36;0.36	5.21	5.21	0.72293	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	H	0.99847	4.84	0.80722	D	1	D;D	0.61697	0.99;0.974	P;P	0.56960	0.81;0.635	D	0.89277	0.3609	10	0.87932	D	0	.	12.4114	0.55469	1.0:0.0:0.0:0.0	.	335;335	B7ZL90;Q9UK32	.;KS6A6_HUMAN	G	335	ENSP00000262752:W335G;ENSP00000440830:W335G	ENSP00000262752:W335G	W	-	1	0	RPS6KA6	83257898	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.059000	0.89462	1.721000	0.51461	0.486000	0.48141	TGG		PASS	0.254	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		22	42	22	42	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132998	91132998	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:91132998G>A	ENST00000373094.1	+	2	2604	c.1759G>A	c.(1759-1761)Ggt>Agt	p.G587S	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G587S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G587S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G587S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G587S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G587S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G587S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G587S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G587S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G587S(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCAAGGCATGGTACAGTAGG	0.388																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1759-1761)GGT>AGT		protocadherin 11 X-linked isoform c							83.0	74.0	77.0					X																	91132998		2203	4299	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132998G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1759G>A	X.37:g.91132998G>A	ENSP00000362186:p.Gly587Ser					PCDH11X_uc004efl.1_Missense_Mutation_p.G587S|PCDH11X_uc004efo.1_Missense_Mutation_p.G587S|PCDH11X_uc010nmv.1_Missense_Mutation_p.G587S|PCDH11X_uc004efm.1_Missense_Mutation_p.G587S|PCDH11X_uc004efn.1_Missense_Mutation_p.G587S|PCDH11X_uc004efh.1_Missense_Mutation_p.G587S|PCDH11X_uc004efj.1_Missense_Mutation_p.G587S	p.G587S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2604	+			587			Extracellular (Potential).|Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1759G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	2.192	-0.385007	0.04966	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.36	5.36	0.76844	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.00801	-1.175	0.50313	D	0.999866	P;P;P;P;P;P;P;P	0.50710	0.924;0.931;0.924;0.924;0.924;0.938;0.924;0.858	P;P;P;P;P;P;P;P	0.57548	0.73;0.801;0.73;0.73;0.73;0.823;0.73;0.591	T	0.41305	-0.9516	10	0.02654	T	1	.	16.9739	0.86308	0.0:0.0:1.0:0.0	.	587;587;587;587;587;587;587;587	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	587	ENSP00000378746:G587S;ENSP00000362186:G587S;ENSP00000362189:G587S;ENSP00000355040:G587S;ENSP00000362180:G587S;ENSP00000423762:G587S;ENSP00000355105:G587S;ENSP00000384758:G587S;ENSP00000298274:G587S	ENSP00000298274:G587S	G	+	1	0	PCDH11X	91019654	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	7.716000	0.84723	2.216000	0.71823	0.422000	0.28245	GGT		PASS	0.388	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		75	67	75	67	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873532	91873532	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:91873532C>A	ENST00000373094.1	+	7	4482	c.3637C>A	c.(3637-3639)Ccg>Acg	p.P1213T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1195T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1203T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1176T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1205T|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1176T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1213T(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGCCCACCACCGATACAGGT	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3637-3639)CCG>ACG		protocadherin 11 X-linked isoform c							172.0	136.0	148.0					X																	91873532		2203	4298	6501	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873532C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3637C>A	X.37:g.91873532C>A	ENSP00000362186:p.Pro1213Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.P1203T|PCDH11X_uc004efo.1_Missense_Mutation_p.P1176T|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1205T|PCDH11X_uc004efn.1_Missense_Mutation_p.P1195T	p.P1213T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4482	+			1213			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3637C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994336	0.19043	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51325	0.72;0.74;0.71;0.71;0.73;0.71	3.39	2.47	0.30058	.	.	.	.	.	T	0.30541	0.0768	N	0.19112	0.55	0.21147	N	0.999773	B;B;B;B;B	0.14012	0.009;0.009;0.009;0.009;0.005	B;B;B;B;B	0.14023	0.01;0.01;0.01;0.01;0.004	T	0.19160	-1.0314	9	0.42905	T	0.14	.	7.2609	0.26203	0.4795:0.5204:0.0:0.0	.	1176;1195;1205;1203;1213	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1213;1203;1176;1195;1205;1213;1176	ENSP00000362186:P1213T;ENSP00000362189:P1203T;ENSP00000362180:P1176T;ENSP00000355105:P1195T;ENSP00000384758:P1205T;ENSP00000298274:P1176T	ENSP00000298274:P1176T	P	+	1	0	PCDH11X	91760188	0.001000	0.12720	0.095000	0.20976	0.002000	0.02628	0.092000	0.15066	0.739000	0.32628	0.466000	0.42574	CCG		PASS	0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		89	87	89	87	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153423	105153423	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:105153423A>G	ENST00000243300.9	+	13	2093	c.1790A>G	c.(1789-1791)cAt>cGt	p.H597R	NRK_ENST00000428173.2_Missense_Mutation_p.H598R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	597					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.H597R(1)|p.H598R(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAGATCACCATGTGCTGTTG	0.532										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1789-1791)CAT>CGT		Nik related kinase							77.0	69.0	72.0					X																	105153423		2006	4162	6168	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153423A>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1790A>G	X.37:g.105153423A>G	ENSP00000434830:p.His597Arg	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.H265R	p.H597R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2093	+			597					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1790A>G		.	.	.	.	.	.	.	.	.	.	A	12.26	1.883553	0.33255	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.81078	-1.44;-1.45	4.12	4.12	0.48240	.	0.000000	0.47455	D	0.000230	T	0.80999	0.4732	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.989	D;P	0.73380	0.98;0.806	T	0.81495	-0.0907	10	0.87932	D	0	.	6.9071	0.24315	0.7668:0.2332:0.0:0.0	.	265;597	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	R	597;598	ENSP00000434830:H597R;ENSP00000438378:H598R	ENSP00000434830:H597R	H	+	2	0	NRK	105040079	0.984000	0.35163	0.998000	0.56505	0.588000	0.36517	3.612000	0.54142	1.844000	0.53588	0.417000	0.27973	CAT		PASS	0.532	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	29	6	29	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122387382	122387382	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:122387382A>G	ENST00000371251.1	+	3	549	c.497A>G	c.(496-498)gAc>gGc	p.D166G	GRIA3_ENST00000541091.1_Missense_Mutation_p.D150G|GRIA3_ENST00000542149.1_Missense_Mutation_p.D166G|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Missense_Mutation_p.D166G|GRIA3_ENST00000371256.5_Missense_Mutation_p.D166G			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	166					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.D166G(6)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TACCTCTATGACACAGAACGA	0.453																																						uc004etq.3																			6	Substitution - Missense(6)		lung(3)|endometrium(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(496-498)GAC>GGC		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						78.0	69.0	72.0					X																	122387382		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387382A>G	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.497A>G	X.37:g.122387382A>G	ENSP00000360297:p.Asp166Gly					GRIA3_uc004etr.3_Missense_Mutation_p.D166G|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.D150G	p.D166G	NM_007325	NP_015564	P42263	GRIA3_HUMAN			4	790	+			166			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.497A>G	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527323	0.85706	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.60752	-0.7201	10	0.87932	D	0	.	13.8022	0.63208	1.0:0.0:0.0:0.0	.	150;166;166	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	G	166;166;166;166;150	ENSP00000264357:D166G;ENSP00000446146:D166G;ENSP00000360302:D166G;ENSP00000360297:D166G;ENSP00000446440:D150G	ENSP00000264357:D166G	D	+	2	0	GRIA3	122215063	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	1.924000	0.55735	0.417000	0.27973	GAC		PASS	0.453	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		69	65	69	65	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123525965	123525965	+	Silent	SNP	A	A	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:123525965A>G	ENST00000371130.3	-	27	5667	c.5604T>C	c.(5602-5604)agT>agC	p.S1868S	TENM1_ENST00000422452.2_Silent_p.S1875S|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1868					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.S1870S(1)									TAATTTTCCCACTCTGGTCAT	0.358																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(5602-5604)AGT>AGC		odz, odd Oz/ten-m homolog 1 isoform 3							89.0	72.0	78.0					X																	123525965		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:123525965A>G	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.5604T>C	X.37:g.123525965A>G						ODZ1_uc011muj.1_Silent_p.S1874S|ODZ1_uc010nqy.2_Silent_p.S1875S	p.S1868S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			27	5668	-			1868			Extracellular (Potential).|YD 7.		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5604T>C	CCDS14609.1																																																																																				PASS	0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		67	74	67	74	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130408582	130408582	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:130408582C>A	ENST00000361420.3	-	18	3821	c.3742G>T	c.(3742-3744)Ggg>Tgg	p.G1248W	IGSF1_ENST00000370910.1_Missense_Mutation_p.G1239W|IGSF1_ENST00000370904.1_Missense_Mutation_p.G1239W|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1253W			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1248					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.G1248W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCTGCTGCCCCCACCAGCTCC	0.547																																						uc004ewd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3742-3744)GGG>TGG		immunoglobulin superfamily, member 1 isoform 1							121.0	112.0	115.0					X																	130408582		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408582C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3742G>T	X.37:g.130408582C>A	ENSP00000355010:p.Gly1248Trp					IGSF1_uc004ewe.3_Missense_Mutation_p.G1242W|IGSF1_uc004ewf.2_Missense_Mutation_p.G1228W	p.G1248W	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			18	3980	-			1248			Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3742G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196582	0.38806	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00682	5.87;5.87;5.87;5.86	5.42	3.53	0.40419	.	0.133866	0.34750	N	0.003709	T	0.01800	0.0057	L	0.36672	1.1	0.09310	N	0.999999	B;D;D	0.89917	0.372;1.0;1.0	B;D;D	0.87578	0.421;0.995;0.998	T	0.47328	-0.9126	10	0.72032	D	0.01	.	5.36	0.16083	0.0:0.686:0.2037:0.1103	.	1239;692;1248	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	W	1239;1248;1239;1253	ENSP00000359947:G1239W;ENSP00000355010:G1248W;ENSP00000359941:G1239W;ENSP00000359940:G1253W	ENSP00000355010:G1248W	G	-	1	0	IGSF1	130236263	0.993000	0.37304	0.985000	0.45067	0.900000	0.52787	3.018000	0.49625	2.410000	0.81850	0.594000	0.82650	GGG		PASS	0.547	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			88	101	88	101	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136649618	136649618	+	Silent	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:136649618C>A	ENST00000287538.5	+	1	1318	c.768C>A	c.(766-768)atC>atA	p.I256I	ZIC3_ENST00000370606.3_Silent_p.I256I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	256					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I256I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTGGATCGACGAGGCTC	0.617																																						uc004fak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(766-768)ATC>ATA		zinc finger protein of the cerebellum 3							47.0	46.0	46.0					X																	136649618		2202	4297	6499	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649618C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.768C>A	X.37:g.136649618C>A							p.I256I	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1273	+	Acute lymphoblastic leukemia(192;0.000127)		256			C2H2-type 1; atypical.		B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.768C>A	CCDS14663.1																																																																																				PASS	0.617	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			29	49	29	49	---	---	---	---
F9	2158	broad.mit.edu	37	X	138630563	138630563	+	Missense_Mutation	SNP	T	T	A	rs104894807		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:138630563T>A	ENST00000218099.2	+	5	440	c.433T>A	c.(433-435)Tgt>Agt	p.C145S	F9_ENST00000394090.2_Missense_Mutation_p.C107S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	145	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.C145S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CGAGCAGTTTTGTAAAAATAG	0.373																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CM940502	F9	M	rs104894807	c.(433-435)TGT>AGT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						184.0	158.0	167.0					X																	138630563		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630563T>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.433T>A	X.37:g.138630563T>A	ENSP00000218099:p.Cys145Ser					F9_uc004fat.1_Missense_Mutation_p.C107S	p.C145S	NM_000133	NP_000124	P00740	FA9_HUMAN			5	462	+	Acute lymphoblastic leukemia(192;0.000127)		145			EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.433T>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862180	0.51482	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.99966	-10.09;-10.09	4.94	4.94	0.65067	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.922;0.999	D	0.97095	0.9793	9	.	.	.	.	11.7338	0.51752	0.0:0.0:0.0:1.0	.	107;145	Q5FBE1;P00740	.;FA9_HUMAN	S	145;107	ENSP00000218099:C145S;ENSP00000377650:C107S	.	C	+	1	0	F9	138458229	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	5.765000	0.68834	1.742000	0.51746	0.441000	0.28932	TGT		PASS	0.373	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			57	80	57	80	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138711968	138711968	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:138711968C>A	ENST00000370576.4	-	4	533	c.324G>T	c.(322-324)atG>atT	p.M108I	MCF2_ENST00000414978.1_Missense_Mutation_p.M168I|MCF2_ENST00000370578.4_Missense_Mutation_p.M253I|MCF2_ENST00000536274.1_Missense_Mutation_p.M69I|MCF2_ENST00000370573.4_Missense_Mutation_p.M108I|MCF2_ENST00000520602.1_Missense_Mutation_p.M168I|MCF2_ENST00000519895.1_Missense_Mutation_p.M168I|MCF2_ENST00000338585.6_Missense_Mutation_p.M108I	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	108					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M108I(2)|p.M168I(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACATCTGAGCCATTTCTTTCA	0.403																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(322-324)ATG>ATT		MCF.2 cell line derived transforming sequence							167.0	164.0	165.0					X																	138711968		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138711968C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.324G>T	X.37:g.138711968C>A	ENSP00000359608:p.Met108Ile					MCF2_uc004fav.2_Missense_Mutation_p.M108I|MCF2_uc011mwl.1_Missense_Mutation_p.M69I|MCF2_uc010nsh.1_Missense_Mutation_p.M108I|MCF2_uc011mwm.1_Missense_Mutation_p.M69I|MCF2_uc011mwn.1_Missense_Mutation_p.M253I|MCF2_uc004faw.2_Missense_Mutation_p.M168I|MCF2_uc011mwo.1_Missense_Mutation_p.M168I	p.M108I	NM_005369	NP_005360	P10911	MCF2_HUMAN			4	618	-	Acute lymphoblastic leukemia(192;0.000127)		108					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.324G>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862181	0.17178	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.35048	1.47;1.34;1.33;1.46;1.47;1.5;1.35;1.38	5.17	3.2	0.36748	.	0.138081	0.64402	D	0.000004	T	0.12774	0.0310	N	0.03154	-0.405	0.28734	N	0.902353	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.10450	0.002;0.001;0.004;0.002;0.004;0.002;0.005;0.002	T	0.22977	-1.0201	10	0.10111	T	0.7	.	6.2009	0.20575	0.3907:0.3684:0.2409:0.0	.	168;253;69;108;108;253;108;108	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	I	168;108;69;253;168;168;108;108	ENSP00000427745:M168I;ENSP00000359608:M108I;ENSP00000438155:M69I;ENSP00000359610:M253I;ENSP00000397055:M168I;ENSP00000430276:M168I;ENSP00000359605:M108I;ENSP00000342204:M108I	ENSP00000342204:M108I	M	-	3	0	MCF2	138539634	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.573000	0.23699	2.155000	0.67459	0.523000	0.50628	ATG		PASS	0.403	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		160	164	160	164	---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586695	139586695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:139586695C>T	ENST00000370536.2	-	1	530	c.531G>A	c.(529-531)tgG>tgA	p.W177*		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	177					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W177*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCAGTTTCCAGTCGGCGC	0.602																																						uc004fbd.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(529-531)TGG>TGA		SRY (sex determining region Y)-box 3							77.0	72.0	74.0					X																	139586695		2203	4300	6503	SO:0001587	stop_gained	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586695C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.531G>A	X.37:g.139586695C>T	ENSP00000359567:p.Trp177*						p.W177*	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	531	-	Acute lymphoblastic leukemia(192;7.65e-05)		177			HMG box.		P35714|Q5JWI3|Q9NP49	Nonsense_Mutation	SNP	ENST00000370536.2	37	c.531G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	34	5.411484	0.96072	.	.	ENSG00000134595	ENST00000370536	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7169	0.69275	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	.	W	-	3	0	SOX3	139414361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	1.638000	0.50547	0.525000	0.51046	TGG		PASS	0.602	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	124	5	124	---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21448049	21448049	+	IGR	DEL	C	C	-			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr3:21448049delC								AC104183.1 (17940 upstream) : RP11-180N14.1 (5664 downstream)																							CTGTGCAGATCGCATCTGACG	0.592																																						uc003ccd.2																			0					0								Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.																																				SO:0001628	intergenic_variant	391518							g.chr3:21448049delC																													3.37:g.21448049delC								NR_002311						1		+									RNA	DEL		37	c.832delC																																																																																				0		0.592									2	4	2	4	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29407970	29407970	+	Frame_Shift_Del	DEL	T	T	-	rs2074469	byFrequency	TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr6:29407970delT	ENST00000444197.2	+	1	888	c.178delT	c.(178-180)ttcfs	p.F61fs	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCTATGTACTTCTTCCTGCG	0.567																																						uc011dlp.1																			0					0						c.(178-180)TTCfs		olfactory receptor, family 10, subfamily C,							192.0	163.0	173.0					6																	29407970		1511	2707	4218	SO:0001589	frameshift_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407970delT		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.178delT	6.37:g.29407970delT	ENSP00000419119:p.Phe61fs					OR11A1_uc010jrh.1_Intron	p.F60fs	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	178	+			60			Helical; Name=2; (Potential).		Q5SUN7|Q96R18	Frame_Shift_Del	DEL	ENST00000444197.2	37	c.178delT	CCDS34364.1																																																																																					0.567	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			82	65	82	65	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101078415	101078415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr8:101078415delG	ENST00000360863.6	-	7	898	c.704delC	c.(703-705)ccafs	p.P235fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.P54fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.P223fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	235					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGAAATAGCTGGTGATTTAAG	0.343																																						uc003yjb.1																			0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(703-705)CCAfs		regulator of G-protein signaling 22							144.0	136.0	138.0					8																	101078415		1833	4093	5926	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101078415delG	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.704delC	8.37:g.101078415delG	ENSP00000354109:p.Pro235fs					RGS22_uc003yja.1_Frame_Shift_Del_p.P54fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.P223fs|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.P235fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		7	899	-			235					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.704delC	CCDS43758.1																																																																																					0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		90	58	90	58	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720828	89720828	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr10:89720828delA	ENST00000371953.3	+	8	2336	c.979delA	c.(979-981)aaafs	p.K327fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	327	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGATCTTGACAAAGCAAATAA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		53	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(4)|Unknown(2)|Insertion - Frameshift(1)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(979-981)AAAfs		phosphatase and tensin homolog							76.0	78.0	77.0					10																	89720828		2203	4299	6502	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720828delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.979delA	10.37:g.89720828delA	ENSP00000361021:p.Lys327fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.K327fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2010	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	327	KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected.		C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.979delA	CCDS31238.1																																																																																					0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		120	97	120	97	---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661456	116661457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:116661456_116661457insA	ENST00000227665.4	-	3	522_523	c.488_489insT	c.(487-489)ctgfs	p.L163fs	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Frame_Shift_Ins_p.L163fs			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	163					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCACGCCCCCCAGCAACTGGGC	0.649																																						uc001ppr.2																			0					0						c.(487-489)CTGfs		apolipoprotein AV precursor																																				SO:0001589	frameshift_variant	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661456_116661457insA	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.489dupT	11.37:g.116661457_116661457dupA	ENSP00000227665:p.Leu163fs					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Frame_Shift_Ins_p.L163fs|APOA5_uc009yzf.2_Frame_Shift_Ins_p.L163fs|APOA5_uc009yzg.2_Frame_Shift_Ins_p.L189fs	p.L163fs	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	496_497	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	163					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Frame_Shift_Ins	INS	ENST00000227665.4	37	c.488_489insT	CCDS8376.2																																																																																					0.649	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			103	62	103	62	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130284669	130284670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr11:130284669_130284670insC	ENST00000257359.6	-	5	2028_2029	c.1322_1323insG	c.(1321-1323)ggcfs	p.G441fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	441	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCCATGCGGCCCGGGAGGCC	0.653																																						uc001qgg.3																			0				central_nervous_system(1)	1						c.(1321-1323)GGCfs		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284669_130284670insC	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1323dupG	11.37:g.130284672_130284672dupC	ENSP00000257359:p.Gly441fs					ADAMTS8_uc001qgf.2_5'Flank	p.G441fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1680_1681	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	441			Disintegrin.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.1322_1323insG	CCDS41732.1																																																																																					0.653	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		42	29	42	29	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431484	49431484	+	Frame_Shift_Del	DEL	C	C	-	rs369597292		TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr12:49431484delC	ENST00000301067.7	-	34	9654	c.9655delG	c.(9655-9657)gctfs	p.A3219fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3219					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGGTCAAAGCCCCACTCTCG	0.607																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9655-9657)GCTfs		myeloid/lymphoid or mixed-lineage leukemia 2							33.0	34.0	34.0					12																	49431484		2046	4203	6249	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431484delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9655delG	12.37:g.49431484delC	ENSP00000301067:p.Ala3219fs	HNSCC(34;0.089)					p.A3219fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9655	-			3219					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.9655delG	CCDS44873.1																																																																																					0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	8	4	8	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24884692	24884693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr14:24884692_24884693insG	ENST00000382554.3	+	9	4055_4056	c.3737_3738insG	c.(3736-3741)gagggcfs	p.EG1246fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1246					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGGTGCGGGAGGGCCGCAGGG	0.629																																						uc001wpf.3																			0				ovary(2)|central_nervous_system(1)	3						c.(3736-3738)GAGfs		hypothetical protein LOC57523																																				SO:0001589	frameshift_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884692_24884693insG	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3740dupG	14.37:g.24884695_24884695dupG	ENSP00000371994:p.Glu1246fs						p.E1246fs	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4055_4056	+			1246					Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Ins	INS	ENST00000382554.3	37	c.3737_3738insG	CCDS45090.1																																																																																					0.629	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			25	19	25	19	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56203118	56203118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr18:56203118delC	ENST00000361673.3	-	5	4514	c.4301delG	c.(4300-4302)ggtfs	p.G1434fs	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1434						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTGATTGACCCCCTTCTCT	0.502																																						uc002lhj.3																			0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(4300-4302)GGTfs		heart alpha-kinase							56.0	56.0	56.0					18																	56203118		2203	4300	6503	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203118delC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4301delG	18.37:g.56203118delC	ENSP00000354991:p.Gly1434fs					ALPK2_uc002lhk.1_Frame_Shift_Del_p.G765fs	p.G1434fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4515	-			1434					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.4301delG	CCDS11966.2																																																																																					0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		64	50	64	50	---	---	---	---
EEF2	1938	broad.mit.edu	37	19	3980012	3980013	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chr19:3980012_3980013delCA	ENST00000309311.6	-	10	1486_1487	c.1398_1399delTG	c.(1396-1401)tgtgggfs	p.CG466fs	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	466					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAATGTTCCCACAAGGCACAT	0.594																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2																			0					0						c.(1396-1401)TGTGGGfs		eukaryotic translation elongation factor 2																																				SO:0001589	frameshift_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980012_3980013delCA	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1398_1399delTG	19.37:g.3980014_3980015delCA	ENSP00000307940:p.Cys466fs						p.C466fs	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1481_1482	-		Hepatocellular(1079;0.137)	466_467					B2RMP5|D6W618|Q58J86	Frame_Shift_Del	DEL	ENST00000309311.6	37	c.1398_1399delTG	CCDS12117.1																																																																																					0.594	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		42	36	42	36	---	---	---	---
MAGEB3	4114	broad.mit.edu	37	X	30254770	30254771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-22-4599-01A-01D-1441-08	TCGA-22-4599-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	08732b51-8ec8-4888-b0c8-a0cb83181cb9	12096a0b-5d7b-455a-84d5-cd136811d54f	g.chrX:30254770_30254771insC	ENST00000361644.2	+	5	1466_1467	c.729_730insC	c.(730-732)cccfs	p.P244fs		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	244	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TATTTGGGGAGCCCAGAAAGCT	0.455																																						uc004dca.1																			0					0						c.(727-732)GAGCCCfs		melanoma antigen family B, 3																																				SO:0001589	frameshift_variant	4114							g.chrX:30254770_30254771insC	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.732dupC	X.37:g.30254773_30254773dupC	ENSP00000355198:p.Pro244fs						p.E243fs	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1466_1467	+			243_244			MAGE.		A0AVE4|B3KQ52|O75861	Frame_Shift_Ins	INS	ENST00000361644.2	37	c.729_730insC	CCDS14220.1																																																																																					0.455	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		19	21	19	21	---	---	---	---
