#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
PLEKHN1	84069	broad.mit.edu	37	1	909828	909828	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:909828G>A	ENST00000379409.2	+	15	1895	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R535Q|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R570Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	622								p.R570Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCAGATGGTCGGTCCCCCAGG	0.637																																						uc001ace.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1864-1866)CGG>CAG		pleckstrin homology domain containing, family N							49.0	55.0	53.0					1																	909828		2202	4299	6501	SO:0001583	missense	84069							g.chr1:909828G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1865G>A	1.37:g.909828G>A	ENSP00000368719:p.Arg622Gln					PLEKHN1_uc001acd.2_Missense_Mutation_p.R570Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.R535Q	p.R622Q	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	15	1900	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	622					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1865G>A		.	.	.	.	.	.	.	.	.	.	G	7.231	0.599416	0.13939	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.42513	0.98;0.97;0.98	2.68	-1.92	0.07618	.	5.084770	0.00397	N	0.000043	T	0.19927	0.0479	N	0.08118	0	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	0.06807	-1.0806	10	0.15066	T	0.55	4.5622	2.8062	0.05428	0.4202:0.0:0.3749:0.205	.	535;622;570	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	Q	570;535;622	ENSP00000368720:R570Q;ENSP00000368717:R535Q;ENSP00000368719:R622Q	ENSP00000368717:R535Q	R	+	2	0	PLEKHN1	899691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.289000	0.08365	-0.423000	0.07394	-0.989000	0.02550	CGG		PASS	0.637	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		24	61	24	61	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16256434	16256434	+	Silent	SNP	C	C	A	rs111615156		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:16256434C>A	ENST00000375759.3	+	11	3903	c.3699C>A	c.(3697-3699)gtC>gtA	p.V1233V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1233					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.V1233V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGATCATGTCGATTTTGATA	0.463																																						uc001axk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3697-3699)GTC>GTA		spen homolog, transcriptional regulator							99.0	92.0	95.0					1																	16256434		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256434C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3699C>A	1.37:g.16256434C>A						SPEN_uc010obp.1_Silent_p.V1192V	p.V1233V	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	3903	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1233					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.3699C>A	CCDS164.1																																																																																				PASS	0.463	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		39	77	39	77	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32196749	32196749	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:32196749C>A	ENST00000373658.3	-	29	4373	c.4032G>T	c.(4030-4032)gaG>gaT	p.E1344D	BAI2_ENST00000398556.3_Missense_Mutation_p.E1259D|BAI2_ENST00000398538.1_Missense_Mutation_p.E1332D|BAI2_ENST00000527361.1_Missense_Mutation_p.E1311D|BAI2_ENST00000398542.1_Missense_Mutation_p.E1244D|BAI2_ENST00000398547.1_Missense_Mutation_p.E1277D|BAI2_ENST00000257070.4_Missense_Mutation_p.E1311D|BAI2_ENST00000440175.2_Missense_Mutation_p.E953D|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000373655.2_Missense_Mutation_p.E1344D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1344					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1344D(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGAGCCTGGCTCAGTGGGCC	0.701																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(4030-4032)GAG>GAT		brain-specific angiogenesis inhibitor 2							18.0	16.0	17.0					1																	32196749		2190	4291	6481	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196749C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4032G>T	1.37:g.32196749C>A	ENSP00000362762:p.Glu1344Asp					BAI2_uc001btm.2_Missense_Mutation_p.E338D|BAI2_uc001btp.1_Missense_Mutation_p.E338D|BAI2_uc010ogn.1_Missense_Mutation_p.E314D|BAI2_uc010ogo.1_Missense_Mutation_p.E953D|BAI2_uc010ogp.1_Missense_Mutation_p.E1277D|BAI2_uc010ogq.1_Missense_Mutation_p.E1311D|BAI2_uc001bto.2_Missense_Mutation_p.E1344D	p.E1344D	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4386	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1344			Cytoplasmic (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.4032G>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891546	0.33442	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.49720	1.45;1.64;0.8;0.8;1.82;0.77;0.77;1.48;0.83	5.34	-0.269	0.12930	.	0.162448	0.29321	N	0.012493	T	0.25158	0.0611	N	0.24115	0.695	0.30524	N	0.768167	B;B;B;B;B;B;B	0.13145	0.002;0.007;0.001;0.001;0.002;0.001;0.001	B;B;B;B;B;B;B	0.14578	0.004;0.011;0.003;0.003;0.003;0.005;0.005	T	0.05053	-1.0909	10	0.41790	T	0.15	.	2.187	0.03889	0.1225:0.4723:0.1194:0.2858	.	1311;1332;953;1259;1344;1344;1332	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	D	1259;1277;1344;1344;1244;1311;1311;953;1332	ENSP00000381564:E1259D;ENSP00000381555:E1277D;ENSP00000362762:E1344D;ENSP00000362759:E1344D;ENSP00000381550:E1244D;ENSP00000257070:E1311D;ENSP00000435397:E1311D;ENSP00000391071:E953D;ENSP00000381548:E1332D	ENSP00000257070:E1311D	E	-	3	2	BAI2	31969336	0.258000	0.24033	0.814000	0.32528	0.784000	0.44337	0.087000	0.14958	0.041000	0.15688	-0.254000	0.11334	GAG		PASS	0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		7	6	7	6	---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38197148	38197148	+	Missense_Mutation	SNP	G	G	T	rs368330975		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:38197148G>T	ENST00000373048.4	-	7	1597	c.1598C>A	c.(1597-1599)tCc>tAc	p.S533Y	EPHA10_ENST00000540011.1_Missense_Mutation_p.S28Y|EPHA10_ENST00000330210.7_Missense_Mutation_p.S28Y|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.S533Y	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	533	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.S534Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCCCGGGGAAGCGGCCCG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15967	0.0		0.0	False		,,,				2504	0.0					uc009vvi.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|stomach(3)|lung(1)	8						c.(1597-1599)TCC>TAC		EPH receptor A10 isofom 3		G	TYR/SER	1,3769		0,1,1884	82.0	85.0	84.0		1598	5.3	1.0	1		84	0,8210		0,0,4105	no	missense	EPHA10	NM_001099439.1	144	0,1,5989	TT,TG,GG		0.0,0.0265,0.0083	probably-damaging	533/1009	38197148	1,11979	1885	4105	5990	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197148G>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1598C>A	1.37:g.38197148G>T	ENSP00000362139:p.Ser533Tyr					EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.S533Y	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			7	1684	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	533			Fibronectin type-III 2.|Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1598C>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257953	0.80246	2.65E-4	0.0	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.76839	-1.05;0.47;-1.05;0.47	5.29	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000763	D	0.85366	0.5680	L	0.53249	1.67	0.26581	N	0.97339	D	0.76494	0.999	D	0.74348	0.983	T	0.79799	-0.1651	10	0.87932	D	0	.	16.4239	0.83808	0.0:0.0:1.0:0.0	.	533	Q5JZY3	EPHAA_HUMAN	Y	28;533;28;533	ENSP00000330379:S28Y;ENSP00000397746:S533Y;ENSP00000441822:S28Y;ENSP00000362139:S533Y	ENSP00000330379:S28Y	S	-	2	0	EPHA10	37969735	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	5.349000	0.66010	2.459000	0.83118	0.563000	0.77884	TCC		PASS	0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		36	93	36	93	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39851393	39851393	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:39851393C>G	ENST00000372915.3	+	56	14238	c.14151C>G	c.(14149-14151)atC>atG	p.I4717M	MACF1_ENST00000361689.2_Missense_Mutation_p.I2650M|MACF1_ENST00000545844.1_Missense_Mutation_p.I2650M|MACF1_ENST00000539005.1_Missense_Mutation_p.I2629M|MACF1_ENST00000289893.4_Missense_Mutation_p.I3152M|MACF1_ENST00000567887.1_Missense_Mutation_p.I4749M|MACF1_ENST00000564288.1_Missense_Mutation_p.I4712M|MACF1_ENST00000317713.7_Missense_Mutation_p.I2650M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4717					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.I3152M(1)|p.I2650M(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTCAGCTATCAGCACCCAAC	0.507																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9454-9456)ATC>ATG		microfilament and actin filament cross-linker							81.0	78.0	79.0					1																	39851393		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851393C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14151C>G	1.37:g.39851393C>G	ENSP00000362006:p.Ile4717Met					MACF1_uc010ois.1_Missense_Mutation_p.I2650M|MACF1_uc001cda.1_Missense_Mutation_p.I2537M|MACF1_uc001cdc.1_Missense_Mutation_p.I1716M	p.I3152M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	9587	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4717					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9456C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.82|17.82	3.482234|3.482234	0.63962|0.63962	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25|.	6.06|6.06	5.15|5.15	0.70609|0.70609	.|.	0.097598|.	0.44902|.	D|.	0.000408|.	T|T	0.54565|0.54565	0.1866|0.1866	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;B|.	0.76494|.	0.999;0.964;0.325|.	D;P;B|.	0.72982|.	0.979;0.725;0.113|.	T|T	0.51521|0.51521	-0.8695|-0.8695	10|5	0.56958|.	D|.	0.05|.	.|.	11.4496|11.4496	0.50145|0.50145	0.0:0.8631:0.0:0.1369|0.0:0.8631:0.0:0.1369	.|.	4717;2650;2594|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	M|E	2650;4717;2650;2650;2629;3152|1763	ENSP00000439537:I2650M;ENSP00000362006:I4717M;ENSP00000354573:I2650M;ENSP00000313438:I2650M;ENSP00000444364:I2629M;ENSP00000289893:I3152M|.	ENSP00000289893:I3152M|.	I|Q	+|+	3|1	3|0	MACF1|MACF1	39623980|39623980	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.573000|0.573000	0.23699|0.23699	1.585000|1.585000	0.49928|0.49928	0.655000|0.655000	0.94253|0.94253	ATC|CAG		PASS	0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		32	27	32	27	---	---	---	---
TAL1	6886	broad.mit.edu	37	1	47689737	47689737	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:47689737C>G	ENST00000294339.3	-	3	1056	c.480G>C	c.(478-480)atG>atC	p.M160I	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.M162I|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371884.2_Missense_Mutation_p.M160I	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	160					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M160I(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGTGGTGAACATAGGGAAGG	0.567			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(478-480)ATG>ATC		T-cell acute lymphocytic leukemia 1							159.0	142.0	148.0					1																	47689737		2203	4300	6503	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47689737C>G	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.480G>C	1.37:g.47689737C>G	ENSP00000294339:p.Met160Ile					TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.M160I|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA	p.M160I	NM_003189	NP_003180	P17542	TAL1_HUMAN			3	1057	-			160					D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.480G>C	CCDS547.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077036	0.55753	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97430	-4.33;-4.38;-4.33	4.76	4.76	0.60689	.	0.250141	0.43416	D	0.000569	D	0.93605	0.7958	L	0.34521	1.04	0.52099	D	0.999944	B	0.11235	0.004	B	0.12837	0.008	D	0.90917	0.4780	10	0.09590	T	0.72	.	17.4639	0.87627	0.0:1.0:0.0:0.0	.	160	P17542	TAL1_HUMAN	I	160;162;160	ENSP00000360951:M160I;ENSP00000360950:M162I;ENSP00000294339:M160I	ENSP00000294339:M160I	M	-	3	0	TAL1	47462324	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.482000	0.60257	2.195000	0.70347	0.650000	0.86243	ATG		PASS	0.567	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		43	143	43	143	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78098555	78098555	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:78098555C>T	ENST00000370801.3	-	5	960	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	162					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R162Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCGACAAGCTCGTTTAGTCCC	0.393																																						uc001dhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(484-486)CGA>CAA		zinc finger, ZZ-type containing 3							172.0	172.0	172.0					1																	78098555		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098555C>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.485G>A	1.37:g.78098555C>T	ENSP00000359837:p.Arg162Gln					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R162Q|ZZZ3_uc001dhp.2_Missense_Mutation_p.R162Q	p.R162Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	961	-			162					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.485G>A	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107808	0.37242	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	5.34	0.76211	.	0.544804	0.18807	N	0.130603	T	0.57301	0.2044	L	0.41236	1.265	0.80722	D	1	D;P;P	0.67145	0.996;0.89;0.933	P;B;B	0.57371	0.819;0.186;0.344	T	0.52525	-0.8564	8	.	.	.	.	19.4381	0.94806	0.0:1.0:0.0:0.0	.	162;162;162	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Q	162	.	.	R	-	2	0	ZZZ3	77871143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.415000	0.44635	2.649000	0.89929	0.650000	0.86243	CGA		PASS	0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		76	288	76	288	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78435678	78435678	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:78435678C>G	ENST00000370768.2	-	2	223	c.142G>C	c.(142-144)Gat>Cat	p.D48H	FUBP1_ENST00000436586.2_Missense_Mutation_p.D48H|FUBP1_ENST00000370767.1_Missense_Mutation_p.D48H	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	48					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.D48H(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCTGCATCACCTCCAATT	0.303			"""F, N"""		oligodendroglioma																																	uc001dii.2				Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(142-144)GAT>CAT		far upstream element-binding protein							77.0	71.0	73.0					1																	78435678		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78435678C>G	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.142G>C	1.37:g.78435678C>G	ENSP00000359804:p.Asp48His					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.D48H	p.D48H	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			2	231	-			48					Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.142G>C	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870101	0.91587	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.54279	1.37;1.38;1.3;0.58	5.77	5.77	0.91146	.	0.136189	0.64402	D	0.000004	T	0.57562	0.2062	L	0.35854	1.095	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.64237	0.923;0.894	T	0.59606	-0.7423	10	0.66056	D	0.02	-22.9071	19.9592	0.97233	0.0:1.0:0.0:0.0	.	48;48	B4DT31;Q96AE4	.;FUBP1_HUMAN	H	48	ENSP00000359803:D48H;ENSP00000359804:D48H;ENSP00000389536:D48H;ENSP00000402630:D48H	ENSP00000294623:D48H	D	-	1	0	FUBP1	78208266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.723000	0.93209	0.585000	0.79938	GAT		PASS	0.303	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		41	26	41	26	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87031644	87031644	+	Silent	SNP	T	T	C	rs79822589	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:87031644T>C	ENST00000370563.3	+	6	937	c.895T>C	c.(895-897)Ttg>Ctg	p.L299L	CLCA4_ENST00000263723.5_Silent_p.L12L	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	299					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.L299L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGTCTTCTCATTGCTGAAGAT	0.403													T|||	7	0.00139776	0.0	0.0	5008	,	,		16871	0.0069		0.0	False		,,,				2504	0.0					uc009wcs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(895-897)TTG>CTG		chloride channel accessory 4							148.0	141.0	143.0					1																	87031644		1900	4134	6034	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031644T>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.895T>C	1.37:g.87031644T>C						CLCA4_uc009wct.2_Silent_p.L62L|CLCA4_uc009wcu.2_Silent_p.L119L	p.L299L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	939	+		Lung NSC(277;0.238)	299					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.895T>C	CCDS41355.1																																																																																				PASS	0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		82	82	82	82	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145460115	145460115	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:145460115C>T	ENST00000369314.1	-	2	214	c.108G>A	c.(106-108)caG>caA	p.Q36Q	POLR3GL_ENST00000369313.3_Silent_p.Q36Q	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	36					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)		p.Q36Q(1)		endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGAGAAGGCTGCAGGGTGG	0.622																																						uc001enp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)CAG>CAA		polymerase (RNA) III (DNA directed) polypeptide							51.0	49.0	49.0					1																	145460115		2203	4300	6503	SO:0001819	synonymous_variant	84265							g.chr1:145460115C>T	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.108G>A	1.37:g.145460115C>T						NBPF10_uc001emp.3_Intron	p.Q36Q	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN			2	215	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		36					B1MVG5	Silent	SNP	ENST00000369314.1	37	c.108G>A	CCDS914.1																																																																																				PASS	0.622	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		10	22	10	22	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562897	145562897	+	Missense_Mutation	SNP	C	C	A	rs587596448	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:145562897C>A	ENST00000355594.4	+	10	2672	c.2585C>A	c.(2584-2586)aCg>aAg	p.T862K		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	862								p.T862K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTATAATACGGCCTGCCGG	0.677																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2584-2586)ACG>AAG		ankyrin repeat domain 35							17.0	21.0	20.0					1																	145562897		2199	4290	6489	SO:0001583	missense	148741							g.chr1:145562897C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2585C>A	1.37:g.145562897C>A	ENSP00000347802:p.Thr862Lys					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.T705K	p.T862K	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2693	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		862			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2585C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	0.174	-1.069010	0.01918	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54675	0.56	5.49	1.43	0.22495	.	1.060390	0.07354	N	0.882924	T	0.14227	0.0344	L	0.46157	1.445	0.09310	N	1	B	0.28082	0.2	B	0.25987	0.065	T	0.28618	-1.0038	10	0.02654	T	1	-0.279	1.8486	0.03164	0.1649:0.4977:0.1598:0.1776	.	862	Q8N283	ANR35_HUMAN	K	771;862	ENSP00000347802:T862K	ENSP00000347802:T862K	T	+	2	0	ANKRD35	144274254	0.000000	0.05858	0.001000	0.08648	0.408000	0.30992	0.110000	0.15437	0.870000	0.35726	0.650000	0.86243	ACG		PASS	0.677	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		13	10	13	10	---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146680526	146680526	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:146680526G>C	ENST00000254090.4	-	6	1106	c.718C>G	c.(718-720)Ctt>Gtt	p.L240V	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.L240V|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.L240V	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	240						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L240V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AAATGTGTAAGTCGAGAAGAG	0.428																																						uc001epi.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(718-720)CTT>GTT		flavin containing monooxygenase 5 isoform 1							105.0	98.0	101.0					1																	146680526		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146680526G>C	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.718C>G	1.37:g.146680526G>C	ENSP00000254090:p.Leu240Val					FMO5_uc001eph.3_Missense_Mutation_p.L240V|FMO5_uc001epj.2_Missense_Mutation_p.L240V|FMO5_uc001epk.3_Missense_Mutation_p.L240V	p.L240V	NM_001461	NP_001452	P49326	FMO5_HUMAN			6	1107	-	all_hematologic(923;0.0487)		240					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.718C>G	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.085061	0.36758	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272	T;T;T	0.52983	0.64;0.64;0.64	5.96	-4.38	0.03622	.	0.675510	0.16117	N	0.228833	T	0.09642	0.0237	N	0.17278	0.47	0.09310	N	1	B;B;B;B	0.18968	0.003;0.001;0.001;0.032	B;B;B;B	0.19666	0.009;0.009;0.009;0.026	T	0.24297	-1.0164	10	0.45353	T	0.12	-0.193	5.515	0.16902	0.3579:0.0:0.4075:0.2346	.	240;240;240;240	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	V	240	ENSP00000416011:L240V;ENSP00000254090:L240V;ENSP00000358277:L240V	ENSP00000254090:L240V	L	-	1	0	FMO5	145147150	0.000000	0.05858	0.010000	0.14722	0.092000	0.18411	-3.458000	0.00464	-0.719000	0.04942	0.650000	0.86243	CTT		PASS	0.428	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		19	184	19	184	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382780	152382780	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:152382780C>T	ENST00000271835.3	-	3	840	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	260	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.A260T(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATTGGTGGCCTCCTGTGTC	0.597																																						uc001ezx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(778-780)GCC>ACC		cornulin							255.0	258.0	257.0					1																	152382780		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382780C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.778G>A	1.37:g.152382780C>T	ENSP00000271835:p.Ala260Thr						p.A260T	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	852	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		260			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.778G>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644014	0.29246	.	.	ENSG00000143536	ENST00000271835	T	0.04406	3.63	4.83	-1.69	0.08186	.	0.924629	0.09122	N	0.845658	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.48103	-0.9064	10	0.42905	T	0.14	.	1.1102	0.01702	0.495:0.1867:0.1768:0.1415	.	260	Q9UBG3	CRNN_HUMAN	T	260	ENSP00000271835:A260T	ENSP00000271835:A260T	A	-	1	0	CRNN	150649404	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.270000	0.08584	0.047000	0.15862	-1.531000	0.00922	GCC		PASS	0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		99	759	99	759	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317794	153317795	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:153317794_153317795GC>AG	ENST00000359650.5	-	4	267_268	c.203_204GC>CT	c.(202-204)tGC>tCT	p.C68S	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.C64S|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	68					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.C68S(2)|p.C68C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGAATACTGCAGCCAACAGC	0.584																																						uc001fbo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(202-204)TGC>TGT|c.(202-204)TGC>TCC		peptidoglycan recognition protein-I-beta																																				SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317794G>A|g.chr1:153317795C>G	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.203_204delinsAG	1.37:g.153317794_153317795delinsAG	ENSP00000352672:p.Cys68Ser					PGLYRP4_uc001fbp.2_Silent_p.C64C|PGLYRP4_uc001fbp.2_Missense_Mutation_p.C64S	p.C68C|p.C68S	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	269|268	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		68					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent|Missense_Mutation	SNP	ENST00000359650.5	37	c.204C>T|c.203G>C	CCDS30871.1																																																																																				PASS	0.584	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		115|116	159|161	115	159	---	---	---	---
CKS1B	1163	broad.mit.edu	37	1	154947241	154947241	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:154947241A>G	ENST00000308987.5	+	1	67	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	SHC1_ENST00000368453.4_5'Flank|MIR4258_ENST00000580920.1_RNA|SHC1_ENST00000368450.1_5'Flank|CKS1B_ENST00000368439.1_5'UTR|CKS1B_ENST00000368436.1_Missense_Mutation_p.Y7C	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	7					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.Y7C(1)		breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAACAAATTTACTATTCGGAC	0.572																																						uc001fgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TAC>TGC		CDC28 protein kinase 1B							50.0	43.0	46.0					1																	154947241		2203	4300	6503	SO:0001583	missense	1163				cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	g.chr1:154947241A>G	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.20A>G	1.37:g.154947241A>G	ENSP00000311083:p.Tyr7Cys					SHC1_uc001ffx.2_5'Flank|SHC1_uc001ffy.2_5'Flank|CKS1B_uc001fga.2_RNA|hsa-mir-4258|MI0015857_5'Flank	p.Y7C	NM_001826	NP_001817	P61024	CKS1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	124	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		7					P33551	Missense_Mutation	SNP	ENST00000308987.5	37	c.20A>G	CCDS1077.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715607	0.68844	.	.	ENSG00000173207	ENST00000368436;ENST00000308987	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	.	.	.	0.80722	D	1	B	0.23990	0.095	B	0.28139	0.086	T	0.47433	-0.9118	8	0.45353	T	0.12	.	14.2812	0.66213	1.0:0.0:0.0:0.0	.	7	P61024	CKS1_HUMAN	C	7	.	ENSP00000311083:Y7C	Y	+	2	0	CKS1B	153213865	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.231000	0.65327	2.207000	0.71202	0.482000	0.46254	TAC		PASS	0.572	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826		17	30	17	30	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155823139	155823139	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:155823139C>T	ENST00000368331.1	-	2	481	c.433G>A	c.(433-435)Gac>Aac	p.D145N	GON4L_ENST00000437809.1_Missense_Mutation_p.D145N|GON4L_ENST00000271883.5_Missense_Mutation_p.D145N|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.D145N	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D145N(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACATCTGTCTTCTTGGGTA	0.448																																						uc001flz.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)	3						c.(433-435)GAC>AAC		gon-4-like isoform a							150.0	150.0	150.0					1																	155823139		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155823139C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.433G>A	1.37:g.155823139C>T	ENSP00000357315:p.Asp145Asn					GON4L_uc001fly.1_Missense_Mutation_p.D145N|GON4L_uc009wrh.1_Missense_Mutation_p.D145N|GON4L_uc001fma.1_Missense_Mutation_p.D145N|GON4L_uc001fmc.2_Missense_Mutation_p.D145N|GON4L_uc001fmd.3_Missense_Mutation_p.D145N|GON4L_uc009wri.2_5'UTR	p.D145N	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			2	530	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		145					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.433G>A		.	.	.	.	.	.	.	.	.	.	C	13.03	2.114708	0.37339	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.23147	2.08;2.08;2.08;1.92	3.88	2.97	0.34412	.	0.275563	0.26297	N	0.025190	T	0.04861	0.0131	N	0.20986	0.625	0.25307	N	0.989232	B;B;B	0.19073	0.033;0.003;0.004	B;B;B	0.17433	0.018;0.003;0.006	T	0.38156	-0.9674	10	0.16420	T	0.52	.	7.6649	0.28426	0.0:0.8854:0.0:0.1146	.	145;145;145	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	N	145	ENSP00000396117:D145N;ENSP00000357315:D145N;ENSP00000271883:D145N;ENSP00000354322:D145N	ENSP00000271883:D145N	D	-	1	0	GON4L	154089763	1.000000	0.71417	0.994000	0.49952	0.759000	0.43091	1.681000	0.37618	1.210000	0.43336	0.561000	0.74099	GAC		PASS	0.448	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		60	372	60	372	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158326363	158326363	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:158326363C>G	ENST00000368167.3	+	5	1219	c.980C>G	c.(979-981)tCa>tGa	p.S327*	CD1E_ENST00000368155.3_Nonsense_Mutation_p.S182*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.S237*|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368154.1_Nonsense_Mutation_p.S83*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.S272*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.S83*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Nonsense_Mutation_p.S237*|CD1E_ENST00000444681.2_Nonsense_Mutation_p.S228*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.S327*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.S138*|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Nonsense_Mutation_p.S138*	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	327					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.S327L(1)|p.S327*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTAGTTGACTCACGGTTAAAA	0.363																																						uc001fse.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	skin(3)	3						c.(979-981)TCA>TGA		CD1E antigen isoform a precursor							89.0	82.0	84.0					1																	158326363		1838	4098	5936	SO:0001587	stop_gained	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326363C>G	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.980C>G	1.37:g.158326363C>G	ENSP00000357149:p.Ser327*					CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Nonsense_Mutation_p.S237*|CD1E_uc001fsj.2_Nonsense_Mutation_p.S182*|CD1E_uc001fsc.2_Nonsense_Mutation_p.S138*|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Nonsense_Mutation_p.S83*|CD1E_uc001fsf.2_Nonsense_Mutation_p.S327*|CD1E_uc001fry.2_Nonsense_Mutation_p.S272*|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Nonsense_Mutation_p.S138*|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Nonsense_Mutation_p.S228*|CD1E_uc001frz.2_Nonsense_Mutation_p.S237*|CD1E_uc009wsw.2_Intron	p.S327*	NM_030893	NP_112155	P15812	CD1E_HUMAN			5	1219	+	all_hematologic(112;0.0378)		327					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Nonsense_Mutation	SNP	ENST00000368167.3	37	c.980C>G	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358169	0.41801	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	.	.	.	4.61	-6.36	0.01969	.	2.699040	0.01423	N	0.014445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	9.0052	8.5598	0.33503	0.0:0.204:0.1342:0.6618	.	.	.	.	X	228;327;138;237;138;272;83;327;237;182;83	.	ENSP00000357136:S83X	S	+	2	0	CD1E	156592987	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.748000	0.01826	-1.082000	0.03101	-0.137000	0.14449	TCA		PASS	0.363	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		38	47	38	47	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161163501	161163501	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:161163501C>A	ENST00000367996.5	-	6	2092	c.1664G>T	c.(1663-1665)gGt>gTt	p.G555V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	555	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.G555V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTACTTGCCACCATTCCGGGG	0.657																																						uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1663-1665)GGT>GTT		ADAM metallopeptidase with thrombospondin type 1							87.0	95.0	93.0					1																	161163501		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163501C>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1664G>T	1.37:g.161163501C>A	ENSP00000356975:p.Gly555Val						p.G555V	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	2092	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		555			TSP type-1.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1664G>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654793	0.88056	.	.	ENSG00000158859	ENST00000367996	T	0.09073	3.02	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000009	T	0.41213	0.1149	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65005	-0.6273	10	0.87932	D	0	.	17.1519	0.86780	0.0:1.0:0.0:0.0	.	555	O75173	ATS4_HUMAN	V	555	ENSP00000356975:G555V	ENSP00000356975:G555V	G	-	2	0	ADAMTS4	159430125	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.895000	0.69814	2.564000	0.86499	0.563000	0.77884	GGT		PASS	0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		53	312	53	312	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165380257	165380257	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:165380257T>C	ENST00000359842.5	-	5	1014	c.712A>G	c.(712-714)Agg>Ggg	p.R238G	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	238	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R238G(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TCTAGAATCCTCTCCACAGGC	0.478																																						uc001gda.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)AGG>GGG		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						168.0	135.0	146.0					1																	165380257		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380257T>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.712A>G	1.37:g.165380257T>C	ENSP00000352900:p.Arg238Gly						p.R238G	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	1012	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		238			Hinge.		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.712A>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431692	0.62844	.	.	ENSG00000143171	ENST00000359842	T	0.71222	-0.55	4.67	4.67	0.58626	Nuclear hormone receptor, ligand-binding (2);	0.048209	0.85682	D	0.000000	T	0.55641	0.1933	M	0.85630	2.765	0.52501	D	0.999952	P	0.38250	0.624	B	0.23419	0.046	T	0.65034	-0.6266	9	0.35671	T	0.21	.	13.0905	0.59164	0.0:0.0:0.0:1.0	.	238	P48443	RXRG_HUMAN	G	238	ENSP00000352900:R238G	ENSP00000352900:R238G	R	-	1	2	RXRG	163646881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.785000	0.62418	1.957000	0.56846	0.460000	0.39030	AGG		PASS	0.478	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		59	128	59	128	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167847818	167847818	+	Silent	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:167847818A>T	ENST00000367851.4	-	12	1456	c.1272T>A	c.(1270-1272)atT>atA	p.I424I	ADCY10_ENST00000545172.1_Silent_p.I271I|ADCY10_ENST00000367848.1_Silent_p.I332I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	424					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.I424I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CGCAGGTCACAATTCCTGGGT	0.423																																						uc001ger.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1270-1272)ATT>ATA		adenylate cyclase 10							111.0	99.0	103.0					1																	167847818		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167847818A>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1272T>A	1.37:g.167847818A>T						ADCY10_uc009wvk.2_Silent_p.I332I|ADCY10_uc010plj.1_Silent_p.I271I|ADCY10_uc009wvl.2_Silent_p.I423I	p.I424I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			12	1570	-			424					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1272T>A	CCDS1265.1																																																																																				PASS	0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		47	118	47	118	---	---	---	---
F5	2153	broad.mit.edu	37	1	169489835	169489835	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:169489835C>G	ENST00000367797.3	-	22	6317	c.6116G>C	c.(6115-6117)aGa>aCa	p.R2039T	F5_ENST00000367796.3_Missense_Mutation_p.R2044T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2039	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.R2039T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTAATATATCTAGCCACAAT	0.373																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6115-6117)AGA>ACA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						76.0	75.0	75.0					1																	169489835		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489835C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6116G>C	1.37:g.169489835C>G	ENSP00000356771:p.Arg2039Thr						p.R2039T	NM_000130	NP_000121	P12259	FA5_HUMAN			22	6261	-	all_hematologic(923;0.208)		2039			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6116G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831021	0.71258	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99730	-6.56;-6.56	5.46	4.45	0.53987	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.112727	0.64402	D	0.000010	D	0.99661	0.9874	M	0.92833	3.35	0.43043	D	0.994633	D	0.67145	0.996	D	0.66084	0.941	D	0.98563	1.0642	9	0.87932	D	0	-23.7256	9.0748	0.36515	0.0:0.8015:0.0:0.1985	.	2039	P12259	FA5_HUMAN	T	2039;2044	ENSP00000356771:R2039T;ENSP00000356770:R2044T	ENSP00000356770:R2044T	R	-	2	0	F5	167756459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.199000	0.51043	2.563000	0.86464	0.655000	0.94253	AGA		PASS	0.373	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		21	47	21	47	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173478803	173478803	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:173478803G>C	ENST00000367714.3	-	24	3365	c.2943C>G	c.(2941-2943)ggC>ggG	p.G981G	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	981					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G981G(1)									AGGCATCAAAGCCTTCATATA	0.393																																						uc001giz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2941-2943)GGC>GGG		solute carrier family 9, member 11							37.0	39.0	38.0					1																	173478803		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173478803G>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2943C>G	1.37:g.173478803G>C						SLC9A11_uc009wwe.2_Silent_p.G539G	p.G981G	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			24	3366	-			981			cNMP.		Q86UF3	Silent	SNP	ENST00000367714.3	37	c.2943C>G	CCDS1308.1																																																																																				PASS	0.393	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		10	57	10	57	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175299318	175299318	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:175299318C>A	ENST00000367674.2	-	21	4393	c.3685G>T	c.(3685-3687)Gac>Tac	p.D1229Y	TNR_ENST00000263525.2_Missense_Mutation_p.D1229Y|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1229	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.D1229Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCCGCATGTCCACGCGCAGC	0.572																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3685-3687)GAC>TAC		tenascin R precursor							79.0	68.0	72.0					1																	175299318		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175299318C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3685G>T	1.37:g.175299318C>A	ENSP00000356646:p.Asp1229Tyr					TNR_uc009wwu.1_Missense_Mutation_p.D1229Y	p.D1229Y	NM_003285	NP_003276	Q92752	TENR_HUMAN			19	3766	-	Renal(580;0.146)		1229			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3685G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002045	0.74932	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79845	-1.31;-1.31	5.55	5.55	0.83447	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92105	0.5691	10	0.87932	D	0	.	19.0924	0.93233	0.0:1.0:0.0:0.0	.	1229	Q92752	TENR_HUMAN	Y	1229;1229;1139	ENSP00000356646:D1229Y;ENSP00000263525:D1229Y	ENSP00000263525:D1229Y	D	-	1	0	TNR	173565941	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	7.380000	0.79704	2.597000	0.87782	0.655000	0.94253	GAC		PASS	0.572	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		47	88	47	88	---	---	---	---
TOR1AIP2	163590	broad.mit.edu	37	1	179815248	179815248	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:179815248G>C	ENST00000367612.3	-	6	1758	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V	TOR1AIP2_ENST00000609928.1_Silent_p.V457V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0								p.V457V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCACTGGCTGGACTGGCAGTA	0.448																																						uc001gnk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1369-1371)GTC>GTG		torsin A interacting protein 2							95.0	96.0	96.0					1																	179815248		2203	4300	6503	SO:0001819	synonymous_variant	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815248G>C		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.1371C>G	1.37:g.179815248G>C						TOR1AIP2_uc001gnl.2_Silent_p.V457V	p.V457V	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			6	1759	-			457					Q05BU2	Silent	SNP	ENST00000367612.3	37	c.1371C>G	CCDS1334.1																																																																																				PASS	0.448	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		35	160	35	160	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201009468	201009468	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:201009468C>G	ENST00000362061.3	-	43	5487	c.5261G>C	c.(5260-5262)aGa>aCa	p.R1754T	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1735T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1754					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1754T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGCTCTTTCTGTCCTCAGG	0.572																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5260-5262)AGA>ACA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						34.0	32.0	33.0					1																	201009468		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009468C>G	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5261G>C	1.37:g.201009468C>G	ENSP00000355192:p.Arg1754Thr						p.R1754T	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			43	5488	-			1754			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5261G>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451621	0.26074	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96073	-3.9;-3.82	4.67	3.75	0.43078	.	33.330400	0.00166	N	0.000001	D	0.89357	0.6692	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.17722	0.019	T	0.79591	-0.1740	10	0.09843	T	0.71	.	9.6168	0.39696	0.0:0.8991:0.0:0.1009	.	1754	Q13698	CAC1S_HUMAN	T	1754;1735	ENSP00000355192:R1754T;ENSP00000356307:R1735T	ENSP00000355192:R1754T	R	-	2	0	CACNA1S	199276091	0.000000	0.05858	0.017000	0.16124	0.070000	0.16714	-0.154000	0.10130	0.952000	0.37798	0.536000	0.68110	AGA		PASS	0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		23	66	23	66	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201757714	201757714	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:201757714G>A	ENST00000367296.4	+	10	3534	c.3114G>A	c.(3112-3114)gaG>gaA	p.E1038E	NAV1_ENST00000367297.4_Silent_p.E1038E|NAV1_ENST00000367295.1_Silent_p.E647E|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000295624.6_Silent_p.E1038E	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1038					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.E1038E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTGGCCGAGAGACCCAAGG	0.622																																						uc001gwu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(3112-3114)GAG>GAA		neuron navigator 1							126.0	108.0	114.0					1																	201757714		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757714G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3114G>A	1.37:g.201757714G>A						NAV1_uc001gwv.1_Silent_p.E546E|NAV1_uc001gww.1_Silent_p.E647E|NAV1_uc001gwx.2_Silent_p.E647E|NAV1_uc001gwy.1_Silent_p.E419E	p.E1038E	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			10	3461	+			1038					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.3114G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251702	0.22880	.	.	ENSG00000134369	ENST00000430015	T	0.39056	1.1	5.4	3.4	0.38934	.	0.110960	0.64402	D	0.000011	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65071	-0.6257	7	0.66056	D	0.02	-27.7916	15.3058	0.73990	0.0:0.3851:0.6149:0.0	.	.	.	.	K	596	ENSP00000405437:E596K	ENSP00000405437:E596K	E	+	1	0	NAV1	200024337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.671000	0.25172	1.251000	0.43983	0.561000	0.74099	GAG		PASS	0.622	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		65	172	65	172	---	---	---	---
LMOD1	25802	broad.mit.edu	37	1	201868841	201868841	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:201868841C>T	ENST00000367288.4	-	2	1546	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	434					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E434K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTCCATCTCCGTCTTGCCT	0.582																																						uc001gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1300-1302)GAG>AAG		leiomodin 1 (smooth muscle)							78.0	80.0	79.0					1																	201868841		2124	4244	6368	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868841C>T	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1300G>A	1.37:g.201868841C>T	ENSP00000356257:p.Glu434Lys					LMOD1_uc010ppu.1_Missense_Mutation_p.E383K	p.E434K	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	1548	-			434					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1300G>A	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935013	0.92458	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.83914	-1.78	4.53	4.53	0.55603	.	0.000000	0.40385	N	0.001120	D	0.90594	0.7051	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92002	0.5611	10	0.87932	D	0	-38.0593	14.7808	0.69766	0.0:1.0:0.0:0.0	.	383;434	B4E3S9;P29536	.;LMOD1_HUMAN	K	434;434;383	ENSP00000356257:E434K	ENSP00000356257:E434K	E	-	1	0	LMOD1	200135464	0.997000	0.39634	0.909000	0.35828	0.853000	0.48598	7.692000	0.84203	2.033000	0.60031	0.650000	0.86243	GAG		PASS	0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			31	50	31	50	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202538294	202538294	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:202538294G>A	ENST00000608999.1	+	23	2984	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R944H|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R170H|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R170H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	944					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.R944H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCCTTGGAGCGCAAAATGTCA	0.433																																						uc001gya.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2830-2832)CGC>CAC		protein phosphatase 1, regulatory (inhibitor)							112.0	107.0	109.0					1																	202538294		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202538294G>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2831G>A	1.37:g.202538294G>A	ENSP00000476755:p.Arg944His					PPP1R12B_uc001gxz.1_Missense_Mutation_p.R944H|PPP1R12B_uc001gyb.1_Missense_Mutation_p.R170H|PPP1R12B_uc001gyc.1_Missense_Mutation_p.R170H	p.R944H	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		23	2975	+			944					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2831G>A	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576287	0.86645	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.61158	0.17;0.16;2.41;0.13	5.42	5.42	0.78866	.	0.000000	0.49305	D	0.000160	T	0.79936	0.4532	M	0.87971	2.92	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.991;0.998	D	0.83503	0.0076	10	0.87932	D	0	.	17.3898	0.87427	0.0:0.0:1.0:0.0	.	170;944;944	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	H	944;944;170;170	ENSP00000384496:R944H;ENSP00000337897:R944H;ENSP00000375821:R170H;ENSP00000356239:R170H	ENSP00000337897:R944H	R	+	2	0	PPP1R12B	200804917	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.418000	0.66429	2.533000	0.85409	0.655000	0.94253	CGC		PASS	0.433	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		4	118	4	118	---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205632421	205632421	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:205632421G>A	ENST00000367145.3	-	3	793	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	166					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.F166F(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GACTGATCATGAAGGCATAGA	0.632			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(2)	4						c.(496-498)TTC>TTT		prostein							34.0	33.0	34.0					1																	205632421		2200	4298	6498	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205632421G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.498C>T	1.37:g.205632421G>A						SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.F166F	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	837	-	Breast(84;0.07)		166			Helical; Name=5; (Potential).		A8K2U9	Silent	SNP	ENST00000367145.3	37	c.498C>T	CCDS1458.1																																																																																				PASS	0.632	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		5	88	5	88	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821586	206821586	+	Missense_Mutation	SNP	G	G	A	rs200323668		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:206821586G>A	ENST00000367109.2	+	3	1211	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	DYRK3_ENST00000367106.1_Missense_Mutation_p.R328H|DYRK3_ENST00000367108.3_Missense_Mutation_p.R328H|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R348H(2)|p.R313H(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CACCACGGGCGCAGTTCAACC	0.458																																					Melanoma(164;427 2622 26826 51707)	uc001hej.2																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	stomach(2)|central_nervous_system(1)	3						c.(1042-1044)CGC>CAC		dual-specificity tyrosine-(Y)-phosphorylation		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	89.0	96.0	94.0		983,1043	4.2	0.9	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DYRK3	NM_001004023.1,NM_003582.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	328/569,348/589	206821586	1,13005	2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821586G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1043G>A	1.37:g.206821586G>A	ENSP00000356076:p.Arg348His					DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.R328H	p.R348H	NM_003582	NP_003573	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	1211	+	Breast(84;0.183)		348			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1043G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990623	0.35131	0.0	1.16E-4	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20463	2.07;2.07;2.07	5.17	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050585	0.85682	D	0.000000	T	0.27027	0.0662	L	0.31578	0.945	0.80722	D	1	B;D	0.65815	0.139;0.995	B;P	0.54965	0.043;0.765	T	0.02037	-1.1225	10	0.45353	T	0.12	.	14.1405	0.65316	0.0:0.0:0.8488:0.1512	.	348;328	O43781;O43781-2	DYRK3_HUMAN;.	H	348;328;328	ENSP00000356076:R348H;ENSP00000356075:R328H;ENSP00000356073:R328H	ENSP00000356073:R328H	R	+	2	0	DYRK3	204888209	1.000000	0.71417	0.874000	0.34290	0.810000	0.45777	7.760000	0.85248	1.376000	0.46267	0.448000	0.29417	CGC		PASS	0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		5	292	5	292	---	---	---	---
IL19	29949	broad.mit.edu	37	1	207010317	207010317	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:207010317C>T	ENST00000270218.6	+	4	1098	c.159C>T	c.(157-159)acC>acT	p.T53T	IL19_ENST00000340758.2_Silent_p.T91T	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	53					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.T53T(1)|p.T91T(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			CTAAGGACACCTTCCCAAATG	0.408																																						uc001hep.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(157-159)ACC>ACT		interleukin 19 isoform 2 precursor							256.0	221.0	233.0					1																	207010317		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010317C>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.159C>T	1.37:g.207010317C>T						IL19_uc001heo.2_Silent_p.T91T|IL19_uc010prx.1_Silent_p.T53T	p.T53T	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	1098	+			53					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000270218.6	37	c.159C>T	CCDS1469.1																																																																																				PASS	0.408	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		64	137	64	137	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207803911	207803911	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:207803911C>G	ENST00000367049.4	+	46	7402	c.7402C>G	c.(7402-7404)Caa>Gaa	p.Q2468E	CR1_ENST00000367053.1_Missense_Mutation_p.Q2018E|CR1_ENST00000367051.1_Missense_Mutation_p.Q2018E|CR1_ENST00000367052.1_Missense_Mutation_p.Q2018E|CR1_ENST00000400960.2_Missense_Mutation_p.Q2018E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	2018					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.Q2468E(1)|p.Q2023E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTACATTCTCAAGGAGGCAG	0.343																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(6052-6054)CAA>GAA		complement receptor 1 isoform F precursor							59.0	59.0	59.0					1																	207803911		1951	4151	6102	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207803911C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7402C>G	1.37:g.207803911C>G	ENSP00000356016:p.Gln2468Glu					CR1_uc001hfx.2_Missense_Mutation_p.Q2468E	p.Q2018E	NM_000573	NP_000564	P17927	CR1_HUMAN			38	6192	+			2018			Cytoplasmic (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.6052C>G	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370810	0.42003	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.33654	1.4;1.53;1.41;1.41;1.4	4.02	-0.413	0.12363	.	.	.	.	.	T	0.20129	0.0484	N	0.19112	0.55	0.09310	N	1	B;B	0.29627	0.001;0.252	B;B	0.31686	0.001;0.134	T	0.26018	-1.0115	9	0.87932	D	0	.	2.2301	0.03994	0.3548:0.382:0.1613:0.1019	.	2018;2468	P17927;E9PDY4	CR1_HUMAN;.	E	2018;2018;2018;2018;2468	ENSP00000356019:Q2018E;ENSP00000356018:Q2018E;ENSP00000356020:Q2018E;ENSP00000383744:Q2018E;ENSP00000356016:Q2468E	ENSP00000356016:Q2468E	Q	+	1	0	CR1	205870534	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	-0.088000	0.11198	-0.156000	0.11079	-0.379000	0.06801	CAA		PASS	0.343	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		9	26	9	26	---	---	---	---
CD34	947	broad.mit.edu	37	1	208073314	208073314	+	Silent	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:208073314A>T	ENST00000310833.7	-	2	435	c.114T>A	c.(112-114)acT>acA	p.T38T	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000485761.1_5'Flank|CD34_ENST00000356522.4_Silent_p.T38T	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	38					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.T38T(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGGGGTAGCAGTACCGTTGT	0.443																																						uc001hgw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(112-114)ACT>ACA		CD34 antigen isoform a							118.0	114.0	115.0					1																	208073314		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208073314A>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.114T>A	1.37:g.208073314A>T						CD34_uc001hgx.1_Silent_p.T38T|CD34_uc010psj.1_5'UTR	p.T38T	NM_001025109	NP_001020280	P28906	CD34_HUMAN			2	372	-			38			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.114T>A	CCDS31011.1																																																																																				PASS	0.443	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		22	134	22	134	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844357	215844357	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:215844357A>G	ENST00000307340.3	-	64	14476	c.14090T>C	c.(14089-14091)tTt>tCt	p.F4697S	USH2A_ENST00000366943.2_Missense_Mutation_p.F4697S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4697	Fibronectin type-III 32. {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.F4697S(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)		GGAATCTATAAAAGATGTTGA	0.363										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.(14089-14091)TTT>TCT		usherin isoform B							158.0	159.0	159.0					1																	215844357		2203	4300	6503	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.chr1:215844357A>G	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.14090T>C	1.37:g.215844357A>G	ENSP00000305941:p.Phe4697Ser	HNSCC(13;0.011)					p.F4697S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14477	-			4697			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14090T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222996	0.58668	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58652	0.32;0.32	5.21	5.21	0.72293	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000478	T	0.76941	0.4058	M	0.82716	2.605	0.24171	N	0.995624	D	0.71674	0.998	D	0.72338	0.977	T	0.71167	-0.4672	10	0.46703	T	0.11	.	15.3969	0.74801	1.0:0.0:0.0:0.0	.	4697	O75445	USH2A_HUMAN	S	4697	ENSP00000305941:F4697S;ENSP00000355910:F4697S	ENSP00000305941:F4697S	F	-	2	0	USH2A	213910980	0.950000	0.32346	0.031000	0.17742	0.364000	0.29643	2.331000	0.43894	2.087000	0.62958	0.528000	0.53228	TTT		PASS	0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		132	241	132	241	---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231364912	231364912	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr1:231364912T>C	ENST00000366649.2	-	3	519	c.494A>G	c.(493-495)gAa>gGa	p.E165G	C1orf131_ENST00000366651.3_Missense_Mutation_p.E164G|C1orf131_ENST00000318906.2_Missense_Mutation_p.E165G			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	165							poly(A) RNA binding (GO:0044822)	p.E165G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TAGGTTAAATTCTTGTGTATC	0.239																																						uc001hun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(493-495)GAA>GGA		hypothetical protein LOC128061							41.0	42.0	42.0					1																	231364912		2198	4296	6494	SO:0001583	missense	128061							g.chr1:231364912T>C	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.494A>G	1.37:g.231364912T>C	ENSP00000355609:p.Glu165Gly					C1orf131_uc001hul.2_Missense_Mutation_p.E165G|C1orf131_uc001hum.2_Missense_Mutation_p.E164G|C1orf131_uc010pwd.1_Missense_Mutation_p.E164G	p.E165G	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN			3	531	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	165					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.494A>G	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604795	0.46423	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.53423	0.62;0.63;2.56	4.5	4.5	0.54988	.	0.119433	0.53938	D	0.000052	T	0.66376	0.2783	M	0.81497	2.545	0.40690	D	0.982383	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;P;D;D	0.87578	0.998;0.88;0.997;0.997	T	0.70749	-0.4787	10	0.72032	D	0.01	-7.4265	8.4751	0.33007	0.0:0.0:0.1968:0.8032	.	164;165;164;165	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	G	165;165;164	ENSP00000355609:E165G;ENSP00000321341:E165G;ENSP00000355611:E164G	ENSP00000321341:E165G	E	-	2	0	C1orf131	229431535	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	1.811000	0.38942	2.254000	0.74563	0.528000	0.53228	GAA		PASS	0.239	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		23	47	23	47	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1921039	1921039	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:1921039C>A	ENST00000399161.2	-	11	2303	c.1556G>T	c.(1555-1557)gGg>gTg	p.G519V	MYT1L_ENST00000428368.2_Missense_Mutation_p.G517V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	519					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G519V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGGTACAGCCCAGTTACGTG	0.552																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1555-1557)GGG>GTG		myelin transcription factor 1-like							190.0	200.0	196.0					2																	1921039		2002	4180	6182	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1921039C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1556G>T	2.37:g.1921039C>A	ENSP00000382114:p.Gly519Val					MYT1L_uc002qxd.2_Missense_Mutation_p.G517V|MYT1L_uc010ewl.1_RNA	p.G519V	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2383	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	519			C2HC-type 2.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1556G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.072205	0.93950	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70869	-0.52;-0.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89582	0.3821	10	0.87932	D	0	-48.57	19.8984	0.96975	0.0:1.0:0.0:0.0	.	519;517	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	519;465;517	ENSP00000382114:G519V;ENSP00000396103:G517V	ENSP00000295067:G465V	G	-	2	0	MYT1L	1900046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	GGG		PASS	0.552	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		107	164	107	164	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24930643	24930643	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:24930643G>T	ENST00000406961.1	+	13	2956	c.2304G>T	c.(2302-2304)ctG>ctT	p.L768L	NCOA1_ENST00000405141.1_Silent_p.L768L|NCOA1_ENST00000348332.3_Silent_p.L768L|NCOA1_ENST00000407230.1_Silent_p.L617L|NCOA1_ENST00000395856.3_Silent_p.L768L|NCOA1_ENST00000538539.1_Silent_p.L768L|NCOA1_ENST00000288599.5_Silent_p.L768L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	768					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.L768L(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)					ACCTGAGCCTGGATGATGTAA	0.388			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 - coding silent(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2302-2304)CTG>CTT		nuclear receptor coactivator 1 isoform 1							66.0	64.0	64.0					2																	24930643		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24930643G>T	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.2304G>T	2.37:g.24930643G>T						NCOA1_uc010eye.2_Silent_p.L768L|NCOA1_uc002rfi.2_Silent_p.L617L|NCOA1_uc002rfj.2_Silent_p.L768L|NCOA1_uc002rfl.2_Silent_p.L768L	p.L768L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	2562	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		768					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2304G>T	CCDS1712.1																																																																																				PASS	0.388	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		35	62	35	62	---	---	---	---
DNAJC27	51277	broad.mit.edu	37	2	25170608	25170608	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:25170608G>C	ENST00000264711.2	-	7	888	c.699C>G	c.(697-699)gtC>gtG	p.V233V	DNAJC27_ENST00000534855.1_Silent_p.V162V	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	233	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.V233V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACGCTTTATTGACTTCATCCC	0.458																																						uc002rft.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(697-699)GTC>GTG		DnaJ (Hsp40) homolog, subfamily C, member 27							136.0	123.0	128.0					2																	25170608		2203	4300	6503	SO:0001819	synonymous_variant	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25170608G>C		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.699C>G	2.37:g.25170608G>C						DNAJC27_uc010ykn.1_Silent_p.V162V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_3'UTR	p.V233V	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN			7	750	-			233			J.		Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	c.699C>G	CCDS1716.1																																																																																				PASS	0.458	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		24	121	24	121	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27480121	27480121	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:27480121G>T	ENST00000233535.4	-	5	1030	c.678C>A	c.(676-678)ccC>ccA	p.P226P	SLC30A3_ENST00000447008.2_Silent_p.P221P	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	226					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.P226P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCCCAGGGGCAGGGGCT	0.652																																						uc002rjk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)CCC>CCA		solute carrier family 30 (zinc transporter),							36.0	37.0	37.0					2																	27480121		2203	4300	6503	SO:0001819	synonymous_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480121G>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.678C>A	2.37:g.27480121G>T						SLC30A3_uc002rjj.2_Missense_Mutation_p.P72H|SLC30A3_uc010ylh.1_Silent_p.P221P	p.P226P	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			5	864	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		226			Cytoplasmic (Potential).		Q8TC03	Silent	SNP	ENST00000233535.4	37	c.678C>A	CCDS1743.1																																																																																				PASS	0.652	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			22	58	22	58	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32703827	32703827	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:32703827C>A	ENST00000421745.2	+	36	7327	c.7193C>A	c.(7192-7194)tCt>tAt	p.S2398Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2398					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S2398Y(1)|p.S2370Y(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAGATATATCTTGGGGTGGT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(7192-7194)TCT>TAT		baculoviral IAP repeat-containing 6							184.0	170.0	175.0					2																	32703827		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32703827C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.7193C>A	2.37:g.32703827C>A	ENSP00000393596:p.Ser2398Tyr						p.S2398Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			36	7327	+	Acute lymphoblastic leukemia(172;0.155)		2398					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7193C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848011	0.91277	.	.	ENSG00000115760	ENST00000421745	T	0.79845	-1.31	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.82692	0.5092	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	P	0.59221	0.854	D	0.85247	0.1042	10	0.87932	D	0	.	19.0366	0.92982	0.0:1.0:0.0:0.0	.	2398	Q9NR09	BIRC6_HUMAN	Y	2398	ENSP00000393596:S2398Y	ENSP00000393596:S2398Y	S	+	2	0	BIRC6	32557331	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.900000	0.69853	2.487000	0.83934	0.655000	0.94253	TCT		PASS	0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		28	156	28	156	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55254534	55254534	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:55254534G>C	ENST00000337526.6	-	3	944	c.701C>G	c.(700-702)tCt>tGt	p.S234C	RTN4_ENST00000394611.2_Missense_Mutation_p.S28C|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S28C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S28C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.S28C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	234					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S234C(1)|p.S28C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AGAAGGAAGAGAAGCAGCAGT	0.443																																						uc002rye.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(700-702)TCT>TGT		reticulon 4 isoform A							84.0	82.0	83.0					2																	55254534		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254534G>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.701C>G	2.37:g.55254534G>C	ENSP00000337838:p.Ser234Cys					RTN4_uc002ryd.2_Missense_Mutation_p.S28C|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.S234C	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	999	-			234			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.701C>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698874	0.68501	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	T;T;T;T;T	0.24538	1.85;1.85;2.22;1.85;1.85	6.02	6.02	0.97574	.	0.090924	0.49305	D	0.000160	T	0.51126	0.1656	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.46638	-0.9177	10	0.87932	D	0	-8.4783	20.547	0.99278	0.0:0.0:1.0:0.0	.	234	Q9NQC3	RTN4_HUMAN	C	28;28;234;28;28;28	ENSP00000384471:S28C;ENSP00000349944:S28C;ENSP00000337838:S234C;ENSP00000378109:S28C;ENSP00000385650:S28C	ENSP00000337838:S234C	S	-	2	0	RTN4	55108038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.111000	0.64628	2.850000	0.98022	0.650000	0.86243	TCT		PASS	0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			25	121	25	121	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74154148	74154148	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:74154148G>T	ENST00000264093.4	+	1	196	c.111G>T	c.(109-111)ggG>ggT	p.G37G	DGUOK_ENST00000348222.1_Silent_p.G37G|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.G37G	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	37					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)	p.G37G(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	CGGGGCGCGGGCCCCGAAGGC	0.657																																						uc002sjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)GGG>GGT		deoxyguanosine kinase isoform a precursor							34.0	37.0	36.0					2																	74154148		2203	4299	6502	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154148G>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.111G>T	2.37:g.74154148G>T						DGUOK_uc002sjy.2_Silent_p.G37G|DGUOK_uc002sjz.2_RNA	p.G37G	NM_080916	NP_550438	Q16854	DGUOK_HUMAN			1	196	+			37					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.111G>T	CCDS1931.1																																																																																				PASS	0.657	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			55	91	55	91	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74273535	74273535	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:74273535G>C	ENST00000409262.3	+	1	86	c.86G>C	c.(85-87)gGa>gCa	p.G29A		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	29					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.G29A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGCCCGCTGGACCCAGTCTG	0.647																																						uc002skb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GGA>GCA		tet oncogene family member 3							36.0	39.0	38.0					2																	74273535		1906	4111	6017	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273535G>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.86G>C	2.37:g.74273535G>C	ENSP00000386869:p.Gly29Ala					TET3_uc010fez.1_Missense_Mutation_p.G29A	p.G29A	NM_144993	NP_659430	O43151	TET3_HUMAN			1	86	+			29					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.86G>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229347	0.58777	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25579	1.79;2.6	5.41	5.41	0.78517	.	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.34792	D	0.735801	D	0.71674	0.998	P	0.61940	0.896	T	0.36553	-0.9743	9	0.72032	D	0.01	.	11.5331	0.50622	0.0822:0.0:0.9178:0.0	.	29	O43151	TET3_HUMAN	A	71;29;29	ENSP00000307803:G71A;ENSP00000386869:G29A	ENSP00000233310:G29A	G	+	2	0	TET3	74127043	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.482000	0.53186	2.826000	0.97356	0.561000	0.74099	GGA		PASS	0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			23	85	23	85	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309569	89309569	+	RNA	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:89309569A>T	ENST00000493819.1	-	0	318									immunoglobulin kappa variable 1-9																		TCCCAGATCCACTGCCGCTGA	0.478																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							119.0	114.0	115.0					2																	89309569		1822	4068	5890			0							g.chr2:89309569A>T	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309569A>T						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6778T>A																																																																																					PASS	0.478	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		125	152	125	152	---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95943153	95943153	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:95943153A>G	ENST00000317620.9	+	7	947	c.814A>G	c.(814-816)Aca>Gca	p.T272A	PROM2_ENST00000403131.2_Missense_Mutation_p.T272A|PROM2_ENST00000317668.4_Missense_Mutation_p.T272A|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Missense_Mutation_p.T272A	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	272					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.T272A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CTTGAATGCTACAGTGGTAGA	0.647																																						uc002suh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)ACA>GCA		prominin 2 precursor							40.0	48.0	46.0					2																	95943153		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95943153A>G	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.814A>G	2.37:g.95943153A>G	ENSP00000318270:p.Thr272Ala					PROM2_uc002sui.2_Missense_Mutation_p.T272A|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.T272A|PROM2_uc002sul.2_5'UTR	p.T272A	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			7	947	+			272			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.814A>G	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	A	5.168	0.216659	0.09810	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.38	4.21	0.49690	.	0.438793	0.20754	N	0.086298	T	0.31979	0.0814	L	0.48877	1.53	0.18873	N	0.999985	P	0.38420	0.63	B	0.38921	0.285	T	0.13495	-1.0507	10	0.08837	T	0.75	-18.4694	8.5657	0.33538	0.8285:0.0:0.0:0.1715	.	272	Q8N271	PROM2_HUMAN	A	272	ENSP00000385716:T272A;ENSP00000318520:T272A;ENSP00000318270:T272A;ENSP00000442542:T272A	ENSP00000318270:T272A	T	+	1	0	PROM2	95306880	0.555000	0.26530	0.112000	0.21494	0.000000	0.00434	3.280000	0.51677	0.864000	0.35578	-0.496000	0.04628	ACA		PASS	0.647	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		26	61	26	61	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97527051	97527051	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:97527051T>C	ENST00000305476.5	-	15	1946	c.1814A>G	c.(1813-1815)tAc>tGc	p.Y605C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	605	Ig-like C2-type.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)	p.Y605C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CCGGGCATCGTAGAGGAAGGA	0.697																																						uc002sxh.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1813-1815)TAC>TGC		semaphorin 4C precursor							18.0	23.0	22.0					2																	97527051		2201	4295	6496	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527051T>C	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1814A>G	2.37:g.97527051T>C	ENSP00000306844:p.Tyr605Cys					SEMA4C_uc002sxf.3_Missense_Mutation_p.Y105C|SEMA4C_uc002sxe.2_Missense_Mutation_p.Y146C|SEMA4C_uc002sxg.3_Missense_Mutation_p.Y658C	p.Y605C	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN			15	1974	-			605			Extracellular (Potential).|Ig-like C2-type.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1814A>G	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192865	0.38707	.	.	ENSG00000168758	ENST00000305476	T	0.04970	3.52	4.69	3.5	0.40072	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.477800	0.22011	N	0.065873	T	0.09291	0.0229	L	0.55213	1.73	0.39555	D	0.969039	P;P;D	0.63880	0.905;0.905;0.993	P;P;P	0.48270	0.572;0.572;0.533	T	0.12708	-1.0537	10	0.51188	T	0.08	.	6.1386	0.20247	0.1617:0.0:0.1684:0.6699	.	605;315;146	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	C	605	ENSP00000306844:Y605C	ENSP00000306844:Y605C	Y	-	2	0	SEMA4C	96890778	0.331000	0.24713	0.597000	0.28824	0.923000	0.55619	0.619000	0.24388	0.782000	0.33613	0.459000	0.35465	TAC		PASS	0.697	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		17	32	17	32	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99636926	99636926	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:99636926G>T	ENST00000393483.3	-	18	2478	c.1634C>A	c.(1633-1635)tCt>tAt	p.S545Y	TSGA10_ENST00000539964.1_Missense_Mutation_p.S545Y|TSGA10_ENST00000355053.4_Missense_Mutation_p.S545Y|TSGA10_ENST00000410001.1_Missense_Mutation_p.S545Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	545					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.S545Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGAATGAGCAGAATCTAACTC	0.368																																						uc002szg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1633-1635)TCT>TAT		testis specific, 10							45.0	45.0	45.0					2																	99636926		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99636926G>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1634C>A	2.37:g.99636926G>T	ENSP00000377123:p.Ser545Tyr					TSGA10_uc002szh.3_Missense_Mutation_p.S545Y|TSGA10_uc002szi.3_Missense_Mutation_p.S545Y|TSGA10_uc010fin.1_Missense_Mutation_p.S545Y	p.S545Y	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			16	2262	-			545					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1634C>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121808	0.37436	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.78364	2.32;2.32;2.32;2.32;-1.17;2.32	5.49	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.71962	0.3402	L	0.43152	1.355	0.80722	D	1	B	0.16802	0.019	B	0.14023	0.01	T	0.70160	-0.4948	10	0.66056	D	0.02	-2.9217	15.0066	0.71516	0.0:0.0:0.8569:0.1431	.	545	Q9BZW7	TSG10_HUMAN	Y	545;545;545;545;475;545	ENSP00000377123:S545Y;ENSP00000386956:S545Y;ENSP00000347161:S545Y;ENSP00000444419:S545Y;ENSP00000386508:S475Y;ENSP00000377122:S545Y	ENSP00000347161:S545Y	S	-	2	0	TSGA10	99003358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.177000	0.65032	1.542000	0.49330	0.650000	0.86243	TCT		PASS	0.368	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		21	92	21	92	---	---	---	---
SEPT10	151011	broad.mit.edu	37	2	110323374	110323374	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:110323374G>C	ENST00000397712.2	-	7	1203	c.825C>G	c.(823-825)gtC>gtG	p.V275V	SEPT10_ENST00000545389.1_Silent_p.V108V|SEPT10_ENST00000437928.1_Silent_p.V260V|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000356688.4_Silent_p.V275V|SEPT10_ENST00000397714.2_Silent_p.V252V|SEPT10_ENST00000334001.6_Silent_p.V142V|SEPT10_ENST00000415095.1_Silent_p.V275V	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	275	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.V252V(1)|p.V275V(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCGAGCTTTGACCATCTTGT	0.428																																						uc002tew.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(823-825)GTC>GTG		septin 10 isoform 1							244.0	228.0	233.0					2																	110323374		1958	4136	6094	SO:0001819	synonymous_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110323374G>C	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.825C>G	2.37:g.110323374G>C						SEPT10_uc010ywu.1_Silent_p.V108V|SEPT10_uc002tex.2_Silent_p.V252V|SEPT10_uc002tey.2_Silent_p.V275V|SEPT10_uc010ywv.1_Silent_p.V141V|SEPT10_uc002tev.1_Silent_p.V82V|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Silent_p.V50V	p.V275V	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			7	1204	-			275					B3KRQ9|Q86VP5|Q9HAH6	Silent	SNP	ENST00000397712.2	37	c.825C>G	CCDS46383.1																																																																																				PASS	0.428	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		84	377	84	377	---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111806850	111806850	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:111806850G>C	ENST00000389811.4	+	17	1739	c.1515G>C	c.(1513-1515)caG>caC	p.Q505H	ACOXL_ENST00000439055.1_Missense_Mutation_p.Q475H			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	505					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.Q475H(1)|p.Q505H(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAGGACCAGACTTTGTTAA	0.428																																						uc002tgr.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1513-1515)CAG>CAC		acyl-Coenzyme A oxidase-like 2							97.0	84.0	88.0					2																	111806850		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111806850G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1515G>C	2.37:g.111806850G>C	ENSP00000374461:p.Gln505His					ACOXL_uc010fkc.2_Missense_Mutation_p.Q475H|ACOXL_uc010yxk.1_Missense_Mutation_p.Q475H	p.Q505H	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			17	1739	+			505					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1515G>C		.	.	.	.	.	.	.	.	.	.	G	18.51	3.639028	0.67130	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.43294	0.95;0.95;0.95	5.4	5.4	0.78164	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.377447	0.25143	N	0.032808	T	0.56062	0.1960	M	0.62723	1.935	0.80722	D	1	P;P;P	0.46457	0.878;0.852;0.755	P;P;P	0.54965	0.765;0.533;0.726	T	0.55490	-0.8133	10	0.51188	T	0.08	-26.8664	14.6673	0.68918	0.0:0.0:1.0:0.0	.	475;475;505	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	H	505;475;326;313	ENSP00000374461:Q505H;ENSP00000407761:Q475H;ENSP00000387832:Q313H	ENSP00000374461:Q505H	Q	+	3	2	ACOXL	111523321	0.962000	0.33011	0.996000	0.52242	0.976000	0.68499	1.816000	0.38992	2.518000	0.84900	0.655000	0.94253	CAG		PASS	0.428	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		11	73	11	73	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113943490	113943490	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:113943490C>T	ENST00000245796.6	+	5	1481	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	PSD4_ENST00000441564.3_Intron	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	429					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.P429L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAATCTCTTCCCTGCACCTTG	0.647																																						uc002tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1285-1287)CCC>CTC		pleckstrin and Sec7 domain containing 4							25.0	28.0	27.0					2																	113943490		2202	4300	6502	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113943490C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1286C>T	2.37:g.113943490C>T	ENSP00000245796:p.Pro429Leu					PSD4_uc002tjd.2_Missense_Mutation_p.P50L|PSD4_uc002tje.2_Intron|PSD4_uc002tjf.2_Missense_Mutation_p.P50L	p.P429L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1469	+			429					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1286C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	1.444	-0.566859	0.03910	.	.	ENSG00000125637	ENST00000245796	T	0.09163	3.01	5.32	0.343	0.16001	.	0.740191	0.12564	N	0.457922	T	0.04679	0.0127	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.46569	-0.9182	10	0.10902	T	0.67	.	7.6538	0.28363	0.0:0.526:0.0:0.474	.	87;429	Q59HG0;Q8NDX1	.;PSD4_HUMAN	L	429	ENSP00000245796:P429L	ENSP00000245796:P429L	P	+	2	0	PSD4	113659961	0.000000	0.05858	0.006000	0.13384	0.109000	0.19521	-0.302000	0.08221	0.103000	0.17682	-0.251000	0.11542	CCC		PASS	0.647	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		17	35	17	35	---	---	---	---
CFC1	55997	broad.mit.edu	37	2	131356222	131356222	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:131356222G>T	ENST00000259216.4	-	3	502	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	80					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)	p.F80L(1)		endometrium(1)|lung(4)	5	Colorectal(110;0.1)					TACCCTCTCCGAAAGCCCGGG	0.592																																						uc002tro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)TTC>TTA		cripto, FRL-1, cryptic family 1B							38.0	52.0	47.0					2																	131356222		2197	4300	6497	SO:0001583	missense	653275				gastrulation	extracellular region		g.chr2:131356222G>T	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.240C>A	2.37:g.131356222G>T	ENSP00000259216:p.Phe80Leu						p.F80L	NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN			3	631	-	Colorectal(110;0.1)		80					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000259216.4	37	c.240C>A	CCDS2162.1	.	.	.	.	.	.	.	.	.	.	.	2.040	-0.420278	0.04734	.	.	ENSG00000136698	ENST00000259216	D	0.87887	-2.31	1.91	0.023	0.14135	.	1.989710	0.02247	N	0.066335	T	0.76407	0.3983	L	0.33485	1.01	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.61973	-0.6952	10	0.02654	T	1	-38.8697	3.1531	0.06495	0.181:0.285:0.534:0.0	.	80	P0CG37	CFC1_HUMAN	L	80	ENSP00000259216:F80L	ENSP00000259216:F80L	F	-	3	2	CFC1	131072692	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.121000	0.10643	-0.011000	0.14247	-0.465000	0.05216	TTC		PASS	0.592	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		20	126	20	126	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141128305	141128306	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:141128305_141128306CC>AG	ENST00000389484.3	-	71	11952_11953	c.10981_10982GG>CT	c.(10981-10983)GGc>CTc	p.G3661L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3661	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.G3661R(1)|p.G3661V(1)|p.G3661L(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)		TTCATCACTGCCATCCACACAG	0.401										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			3	Substitution - Missense(3)		lung(3)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10981-10983)GGC>GTC|c.(10981-10983)GGC>CGC		low density lipoprotein-related protein 1B																																				SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128305C>A|g.chr2:141128306C>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.10981_10982delinsAG	2.37:g.141128305_141128306delinsAG	ENSP00000374135:p.Gly3661Leu	TSP Lung(27;0.18)					p.G3661V|p.G3661R	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	11954|11953	-		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)	3661			Extracellular (Potential).|LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10982G>T|c.10981G>C	CCDS2182.1																																																																																				PASS	0.401	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		58|57	320|318	57	318	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141250190	141250190	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:141250190G>T	ENST00000389484.3	-	57	10078	c.9107C>A	c.(9106-9108)aCa>aAa	p.T3036K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3036					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.T3036K(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)		TTTTAAAAGTGTGTAGTTGGA	0.363										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.(9106-9108)ACA>AAA		low density lipoprotein-related protein 1B							218.0	189.0	199.0					2																	141250190		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141250190G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9107C>A	2.37:g.141250190G>T	ENSP00000374135:p.Thr3036Lys	TSP Lung(27;0.18)					p.T3036K	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)	57	10079	-		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)	3036			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9107C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396545	0.83011	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	M	0.71920	2.185	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	D	0.94061	0.7326	10	0.40728	T	0.16	.	18.8229	0.92105	0.0:0.0:1.0:0.0	.	3036	Q9NZR2	LRP1B_HUMAN	K	3036;2974	ENSP00000374135:T3036K	ENSP00000374135:T3036K	T	-	2	0	LRP1B	140966660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.770000	0.98971	2.455000	0.83008	0.460000	0.39030	ACA		PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		29	198	29	198	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406748	158406748	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:158406748C>G	ENST00000243349.8	-	4	1061	c.701G>C	c.(700-702)cGt>cCt	p.R234P	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R184P|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R154P	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.R234P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTGCCTCACGAAACCAAGA	0.433																																						uc002tzk.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(700-702)CGT>CCT		activin A receptor, type IC isoform 1							162.0	161.0	161.0					2																	158406748		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406748C>G	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.701G>C	2.37:g.158406748C>G	ENSP00000243349:p.Arg234Pro					ACVR1C_uc002tzl.3_Missense_Mutation_p.R154P|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.R184P	p.R234P	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	944	-			234			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.701G>C	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999294	0.54147	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	D;D;D	0.94537	-3.45;-3.45;-3.45	6.16	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.249575	0.28465	N	0.015246	D	0.97999	0.9341	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	.	16.6214	0.84931	0.1313:0.8687:0.0:0.0	.	154;234	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	P	234;184;154	ENSP00000243349:R234P;ENSP00000387168:R184P;ENSP00000335178:R154P	ENSP00000243349:R234P	R	-	2	0	ACVR1C	158114994	1.000000	0.71417	0.967000	0.41034	0.054000	0.15201	7.818000	0.86416	1.602000	0.50124	-0.188000	0.12872	CGT		PASS	0.433	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		21	199	21	199	---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158406867	158406867	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:158406867C>A	ENST00000243349.8	-	4	942	c.582G>T	c.(580-582)acG>acT	p.T194T	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Silent_p.T144T|ACVR1C_ENST00000335450.7_Silent_p.T114T	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.T194T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAAGCACAATCGTCCTTGCAA	0.398																																						uc002tzk.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(2)	7						c.(580-582)ACG>ACT		activin A receptor, type IC isoform 1							189.0	181.0	184.0					2																	158406867		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406867C>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.582G>T	2.37:g.158406867C>A						ACVR1C_uc002tzl.3_Silent_p.T114T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.T144T	p.T194T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	825	-			194	T->D: Pro-apoptotic.		Cytoplasmic (Potential).|GS.			Silent	SNP	ENST00000243349.8	37	c.582G>T	CCDS2205.1																																																																																				PASS	0.398	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		36	139	36	139	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160755237	160755237	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:160755237C>T	ENST00000263636.4	-	2	455	c.428G>A	c.(427-429)gGa>gAa	p.G143E	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G143E|LY75_ENST00000553424.1_Missense_Mutation_p.G143E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G143E|LY75_ENST00000554112.1_Missense_Mutation_p.G143E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	143	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G143E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTCTGAGCCTCCTTTCTTCCA	0.502																																						uc002ubc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GGA>GAA		lymphocyte antigen 75 precursor							105.0	99.0	101.0					2																	160755237		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755237C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.428G>A	2.37:g.160755237C>T	ENSP00000263636:p.Gly143Glu					LY75_uc002ubb.3_Missense_Mutation_p.G143E|LY75_uc010fos.2_Missense_Mutation_p.G143E|LY75_uc010fot.1_Missense_Mutation_p.G143E	p.G143E	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	2	497	-			143			Extracellular (Potential).|Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.428G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895159	0.72639	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (1);	0.000000	0.34555	N	0.003865	T	0.54481	0.1861	L	0.58302	1.8	0.32776	N	0.503102	P;D;D	0.89917	0.947;0.999;1.0	P;D;D	0.97110	0.701;0.93;1.0	T	0.61028	-0.7145	10	0.23891	T	0.37	-19.6793	7.6121	0.28137	0.0:0.807:0.0:0.193	.	143;143;143	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	E	143	ENSP00000451511:G143E;ENSP00000451446:G143E;ENSP00000263636:G143E;ENSP00000423463:G143E;ENSP00000421035:G143E	ENSP00000423463:G143E	G	-	2	0	LY75;LY75-CD302	160463483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.300000	0.43620	2.756000	0.94617	0.655000	0.94253	GGA		PASS	0.502	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			28	112	28	112	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160755382	160755382	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:160755382G>T	ENST00000263636.4	-	2	310	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L95M|LY75_ENST00000553424.1_Missense_Mutation_p.L95M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L95M|LY75_ENST00000554112.1_Missense_Mutation_p.L95M	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	95	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L95M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AACATTCTCAGCTCATTTACC	0.522																																						uc002ubc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CTG>ATG		lymphocyte antigen 75 precursor							103.0	91.0	95.0					2																	160755382		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755382G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.283C>A	2.37:g.160755382G>T	ENSP00000263636:p.Leu95Met					LY75_uc002ubb.3_Missense_Mutation_p.L95M|LY75_uc010fos.2_Missense_Mutation_p.L95M|LY75_uc010fot.1_Missense_Mutation_p.L95M	p.L95M	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	2	352	-			95			Extracellular (Potential).|Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.283C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	g	10.01	1.234140	0.22626	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.92	-2.43	0.06522	Ricin B-related lectin (1);Ricin B lectin (2);	0.669570	0.11403	N	0.567594	T	0.54983	0.1892	M	0.83483	2.645	0.23795	N	0.996828	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.979;0.981;0.968	T	0.47195	-0.9136	10	0.72032	D	0.01	-5.4349	6.7492	0.23477	0.433:0.2259:0.3411:0.0	.	95;95;95	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	M	95	ENSP00000451511:L95M;ENSP00000451446:L95M;ENSP00000263636:L95M;ENSP00000423463:L95M;ENSP00000421035:L95M	ENSP00000423463:L95M	L	-	1	2	LY75;LY75-CD302	160463628	0.307000	0.24500	0.009000	0.14445	0.000000	0.00434	0.723000	0.25939	-0.290000	0.09025	-1.085000	0.02201	CTG		PASS	0.522	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			66	79	66	79	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107682	168107682	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:168107682G>A	ENST00000409195.1	+	9	9869	c.9780G>A	c.(9778-9780)gaG>gaA	p.E3260E	XIRP2_ENST00000295237.9_Silent_p.E3260E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E3038E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3085					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E3260E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACGCTCAAGAGGAAATCAGGA	0.423																																						uc002udx.2																			1	Substitution - coding silent(1)	p.E3260G(1)	lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9778-9780)GAG>GAA		xin actin-binding repeat containing 2 isoform 1							67.0	63.0	64.0					2																	168107682		1905	4131	6036	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107682G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9780G>A	2.37:g.168107682G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.E3085E|XIRP2_uc010fpq.2_Silent_p.E3038E|XIRP2_uc010fpr.2_Intron	p.E3260E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9798	+			3085					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.9780G>A	CCDS42769.1																																																																																				PASS	0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		25	101	25	101	---	---	---	---
G6PC2	57818	broad.mit.edu	37	2	169764111	169764111	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:169764111C>G	ENST00000375363.3	+	5	682	c.590C>G	c.(589-591)cCa>cGa	p.P197R	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	197					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.P197R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GAACACACTCCAGGCATCCAA	0.517																																						uc002uem.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(589-591)CCA>CGA		islet-specific glucose-6-phosphatase-related							190.0	164.0	173.0					2																	169764111		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764111C>G	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.590C>G	2.37:g.169764111C>G	ENSP00000364512:p.Pro197Arg					G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.P81R	p.P197R	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	682	+			197			Cytoplasmic (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.590C>G	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990034	0.18966	.	.	ENSG00000152254	ENST00000375363	T	0.75477	-0.94	5.88	4.99	0.66335	.	0.251149	0.32314	N	0.006275	T	0.50820	0.1638	N	0.04355	-0.22	0.36541	D	0.871306	B	0.06786	0.001	B	0.10450	0.005	T	0.52071	-0.8624	10	0.16420	T	0.52	-22.3809	11.7401	0.51788	0.1391:0.7271:0.1338:0.0	.	197	Q9NQR9	G6PC2_HUMAN	R	197	ENSP00000364512:P197R	ENSP00000364512:P197R	P	+	2	0	G6PC2	169472357	0.066000	0.20996	1.000000	0.80357	0.916000	0.54674	2.148000	0.42235	1.450000	0.47717	0.655000	0.94253	CCA		PASS	0.517	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		25	169	25	169	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179441933	179441933	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179441933G>A	ENST00000591111.1	-	274	64430	c.64206C>T	c.(64204-64206)ccC>ccT	p.P21402P	TTN_ENST00000342992.6_Silent_p.P20475P|RP11-171I2.5_ENST00000604215.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P13978P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.P23043P|TTN_ENST00000342175.6_Silent_p.P14170P|TTN_ENST00000359218.5_Silent_p.P14103P			Q8WZ42	TITIN_HUMAN	titin	21402	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.P14170P(1)|p.P20475P(1)|p.P14103P(1)|p.P20473P(1)|p.P13978P(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)			CAGGACCTGGGGGACCAGGTA	0.458																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(61423-61425)CCC>CCT		titin isoform N2-A							61.0	59.0	60.0					2																	179441933		1954	4146	6100	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441933G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64206C>T	2.37:g.179441933G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P14170P|TTN_uc010zfi.1_Silent_p.P14103P|TTN_uc010zfj.1_Silent_p.P13978P|uc002umv.1_5'Flank	p.P20475P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61649	-			21402					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.61425C>T																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	69	20	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179453427	179453427	+	Nonsense_Mutation	SNP	G	G	A	rs368452607		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179453427G>A	ENST00000591111.1	-	254	58326	c.58102C>T	c.(58102-58104)Cga>Tga	p.R19368*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R18441*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R11944*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R21009*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R12136*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R12069*			Q8WZ42	TITIN_HUMAN	titin	19368	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R12136*(1)|p.R18441*(1)|p.R18439*(1)|p.R11944*(1)|p.R12069*(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)			GGGACCCATCGTGTTGAATGC	0.423																																						uc010zfg.1																			5	Substitution - Nonsense(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.(55321-55323)CGA>TGA		titin isoform N2-A							164.0	154.0	157.0					2																	179453427		1904	4122	6026	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453427G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58102C>T	2.37:g.179453427G>A	ENSP00000465570:p.Arg19368*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R12136*|TTN_uc010zfi.1_Nonsense_Mutation_p.R12069*|TTN_uc010zfj.1_Nonsense_Mutation_p.R11944*	p.R18441*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55545	-			19368					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.55321C>T		.	.	.	.	.	.	.	.	.	.	G	61	56.630531	0.99989	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6015	0.62022	0.0:0.0:0.5794:0.4206	.	.	.	.	X	18441;11944;12136;12069;11942	.	ENSP00000340554:R12136X	R	-	1	2	TTN	179161673	1.000000	0.71417	0.894000	0.35097	0.967000	0.64934	3.365000	0.52335	1.580000	0.49851	0.650000	0.86243	CGA		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		112	142	112	142	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613541	179613541	+	Intron	SNP	G	G	A	rs138927584		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179613541G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A4529V|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			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)			TAAATTTATTGCAATGTTAGA	0.318																																						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.(13585-13587)GCA>GTA		titin isoform novex-3							100.0	99.0	99.0					2																	179613541		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613541G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4309C>T	2.37:g.179613541G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A4529V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13810	-			660					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.13586C>T		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.829393	0.00584	.	.	ENSG00000155657	ENST00000360870	T	0.54479	0.57	6.04	-1.04	0.10068	.	.	.	.	.	T	0.19167	0.0460	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	9	0.06891	T	0.86	.	2.1447	0.03784	0.5265:0.1204:0.2322:0.1209	.	4529	Q8WZ42-6	.	V	4529	ENSP00000354117:A4529V	ENSP00000354117:A4529V	A	-	2	0	TTN	179321786	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.385000	0.20685	-0.068000	0.12953	-0.471000	0.05019	GCA		PASS	0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	138	43	138	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179613794	179613794	+	Intron	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179613794G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L4445F|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			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)			TCTTCACCAAGGGATTCTTCA	0.348																																						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.(13333-13335)CTT>TTT		titin isoform novex-3							59.0	61.0	60.0					2																	179613794		2202	4296	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613794G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4056C>T	2.37:g.179613794G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.L4445F	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13557	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.13333C>T		.	.	.	.	.	.	.	.	.	.	G	4.091	0.014814	0.07959	.	.	ENSG00000155657	ENST00000360870	T	0.63913	-0.07	5.84	-1.66	0.08265	.	.	.	.	.	T	0.37679	0.1012	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	0.38643	T	0.18	.	5.9839	0.19423	0.5367:0.0:0.3346:0.1286	.	4445	Q8WZ42-6	.	F	4445	ENSP00000354117:L4445F	ENSP00000354117:L4445F	L	-	1	0	TTN	179322039	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.039000	0.12124	-0.189000	0.10482	-0.244000	0.11960	CTT		PASS	0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	128	26	128	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179631292	179631292	+	Silent	SNP	G	G	A	rs151129843	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179631292G>A	ENST00000591111.1	-	41	9743	c.9519C>T	c.(9517-9519)gaC>gaT	p.D3173D	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.D3173D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.D3173D|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Silent_p.D3127D|TTN_ENST00000589042.1_Silent_p.D3173D|TTN_ENST00000342175.6_Silent_p.D3127D|TTN_ENST00000359218.5_Silent_p.D3127D			Q8WZ42	TITIN_HUMAN	titin	13505					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.D3173D(3)|p.D3127D(3)		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)			CATCAACATCGTCTTCATTGA	0.368													G|||	4	0.000798722	0.0	0.0	5008	,	,		20661	0.004		0.0	False		,,,				2504	0.0					uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(9517-9519)GAC>GAT		titin isoform N2-A							126.0	113.0	117.0					2																	179631292		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631292G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9519C>T	2.37:g.179631292G>A						TTN_uc010zfh.1_Silent_p.D3127D|TTN_uc010zfi.1_Silent_p.D3127D|TTN_uc010zfj.1_Silent_p.D3127D|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.D3173D	p.D3173D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9743	-			3173					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.9519C>T																																																																																					PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	87	64	87	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179649052	179649052	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:179649052G>T	ENST00000591111.1	-	16	2744	c.2520C>A	c.(2518-2520)gcC>gcA	p.A840A	TTN_ENST00000342992.6_Silent_p.A840A|TTN_ENST00000360870.5_Silent_p.A840A|TTN_ENST00000460472.2_Silent_p.A794A|TTN_ENST00000589042.1_Silent_p.A840A|TTN_ENST00000342175.6_Silent_p.A794A|TTN_ENST00000359218.5_Silent_p.A794A			Q8WZ42	TITIN_HUMAN	titin	33671					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.A794A(3)|p.A840A(3)		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)			TTTGTAATGTGGCAATAGCAC	0.468																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2518-2520)GCC>GCA		titin isoform N2-A							71.0	62.0	65.0					2																	179649052		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179649052G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2520C>A	2.37:g.179649052G>T						TTN_uc010zfh.1_Silent_p.A794A|TTN_uc010zfi.1_Silent_p.A794A|TTN_uc010zfj.1_Silent_p.A794A|TTN_uc002unb.2_Silent_p.A840A	p.A840A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2744	-			840					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2520C>A																																																																																					PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	79	67	79	---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220435043	220435043	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:220435043G>C	ENST00000404537.1	-	1	968	c.912C>G	c.(910-912)ctC>ctG	p.L304L	OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000491370.1_5'Flank|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373873.4_Silent_p.L304L|OBSL1_ENST00000265318.4_Silent_p.L304L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000603926.1_Silent_p.L304L|OBSL1_ENST00000373876.1_Silent_p.L304L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	304	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.L304L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AAAGCACCTTGAGCACGAAGC	0.697																																						uc010fwk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(910-912)CTC>CTG		obscurin-like 1							27.0	32.0	30.0					2																	220435043		2042	4169	6211	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220435043G>C	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.912C>G	2.37:g.220435043G>C						OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L304L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.L304L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	969	-		Renal(207;0.0376)	304			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.912C>G	CCDS46520.1																																																																																				PASS	0.697	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			6	23	6	23	---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223791784	223791784	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:223791784C>G	ENST00000357430.3	+	12	1873	c.1342C>G	c.(1342-1344)Ctg>Gtg	p.L448V	ACSL3_ENST00000392066.3_Missense_Mutation_p.L448V	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	448					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L448V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TATTCGTCTCCTGTTGTGTGG	0.448			T	ETV1	prostate																																	uc002vni.2				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1342-1344)CTG>GTG		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						126.0	123.0	124.0					2																	223791784		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223791784C>G	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1342C>G	2.37:g.223791784C>G	ENSP00000350012:p.Leu448Val					ACSL3_uc002vnj.2_Missense_Mutation_p.L448V	p.L448V	NM_004457	NP_004448	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	12	1793	+		Renal(207;0.0183)	448			Cytoplasmic (Potential).		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.1342C>G	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	8.691	0.907326	0.17833	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.41065	1.01;1.01	5.88	0.564	0.17302	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.26162	0.8	0.44643	D	0.997627	B	0.31893	0.345	B	0.33799	0.17	T	0.03807	-1.1002	10	0.27082	T	0.32	-11.0544	10.2498	0.43362	0.0:0.5776:0.0:0.4224	.	448	O95573	ACSL3_HUMAN	V	448	ENSP00000350012:L448V;ENSP00000375918:L448V	ENSP00000350012:L448V	L	+	1	2	ACSL3	223500028	0.079000	0.21365	0.258000	0.24420	0.811000	0.45836	0.363000	0.20301	0.024000	0.15214	0.591000	0.81541	CTG		PASS	0.448	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		81	59	81	59	---	---	---	---
CRTAP	10491	broad.mit.edu	37	3	33156012	33156012	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:33156012A>G	ENST00000320954.6	+	1	542	c.443A>G	c.(442-444)tAc>tGc	p.Y148C	CRTAP_ENST00000449224.1_Missense_Mutation_p.Y148C	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	148					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)	p.Y148C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGCGAGCCCTACAAGTTCCTG	0.726																																						uc003cfl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)TAC>TGC		cartilage associated protein precursor							7.0	8.0	8.0					3																	33156012		1470	3277	4747	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33156012A>G	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.443A>G	3.37:g.33156012A>G	ENSP00000323696:p.Tyr148Cys					CRTAP_uc010hfz.2_Missense_Mutation_p.Y148C|CRTAP_uc003cfm.2_5'UTR|CRTAP_uc003cfn.2_5'UTR	p.Y148C	NM_006371	NP_006362	O75718	CRTAP_HUMAN			1	563	+			148					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.443A>G	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359372	0.82353	.	.	ENSG00000170275	ENST00000320954;ENST00000509775;ENST00000539684;ENST00000449224;ENST00000423366	T;T	0.78924	-1.22;-1.22	4.31	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.89902	0.4045	10	0.87932	D	0	-4.0945	13.58	0.61896	1.0:0.0:0.0:0.0	.	148;148	C9JP16;O75718	.;CRTAP_HUMAN	C	148;148;135;148;148	ENSP00000323696:Y148C;ENSP00000409997:Y148C	ENSP00000323696:Y148C	Y	+	2	0	CRTAP	33131016	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.659000	0.91116	1.941000	0.56285	0.383000	0.25322	TAC		PASS	0.726	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			3	2	3	2	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33580423	33580423	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:33580423T>C	ENST00000468888.2	-	33	3486	c.3440A>G	c.(3439-3441)tAt>tGt	p.Y1147C	CLASP2_ENST00000539981.1_Missense_Mutation_p.Y916C|CLASP2_ENST00000480013.1_Missense_Mutation_p.Y926C|CLASP2_ENST00000359576.5_Missense_Mutation_p.Y1138C|CLASP2_ENST00000307312.7_Missense_Mutation_p.Y628C|CLASP2_ENST00000461133.3_Missense_Mutation_p.Y906C|CLASP2_ENST00000399362.4_Missense_Mutation_p.Y1146C			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	927	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.Y1139C(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCTGTGTCATAATCAAATGC	0.313																																						uc003cfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3415-3417)TAT>TGT		CLIP-associating protein 2							44.0	39.0	40.0					3																	33580423		1801	4065	5866	SO:0001583	missense	23122							g.chr3:33580423T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3440A>G	3.37:g.33580423T>C	ENSP00000419974:p.Tyr1147Cys					CLASP2_uc003cfs.2_Missense_Mutation_p.Y346C|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.Y739C	p.Y1139C	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			32	3770	-			1148					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3416A>G		.	.	.	.	.	.	.	.	.	.	T	21.0	4.084545	0.76642	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T	0.68331	2.09;2.09;2.09;-0.32	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;P	0.87578	0.998;0.997;0.827	T	0.79249	-0.1881	10	0.52906	T	0.07	-12.5578	15.1749	0.72903	0.0:0.0:0.0:1.0	.	927;1138;1146	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	C	1147;1146;1138;628;916;926;906	ENSP00000419974:Y1147C;ENSP00000382297:Y1146C;ENSP00000352581:Y1138C;ENSP00000439039:Y916C	ENSP00000304743:Y628C	Y	-	2	0	CLASP2	33555427	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.040000	0.89188	1.980000	0.57719	0.459000	0.35465	TAT		PASS	0.313	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		15	9	15	9	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38622756	38622756	+	Missense_Mutation	SNP	C	C	T	rs199473181		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:38622756C>T	ENST00000333535.4	-	17	3043	c.2894G>A	c.(2893-2895)cGc>cAc	p.R965H	SCN5A_ENST00000449557.2_Missense_Mutation_p.R965H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R965H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R965H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R965H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R965H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	965			R -> C (in BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation). {ECO:0000269|PubMed:11901046, ECO:0000269|PubMed:19272188}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R965H(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCTGGATGCGGGCCAGGGC	0.627																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM067021	SCN5A	M		c.(2893-2895)CGC>CAC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						24.0	26.0	26.0					3																	38622756		2028	4212	6240	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622756C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2894G>A	3.37:g.38622756C>T	ENSP00000328968:p.Arg965His					SCN5A_uc003cin.2_Missense_Mutation_p.R965H|SCN5A_uc003cil.3_Missense_Mutation_p.R965H|SCN5A_uc010hhi.2_Missense_Mutation_p.R965H|SCN5A_uc010hhk.2_Missense_Mutation_p.R965H|SCN5A_uc011ayr.1_Missense_Mutation_p.R965H|SCN5A_uc010hhj.1_Missense_Mutation_p.R576H	p.R965H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3088	-	Medulloblastoma(35;0.163)		965		R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2894G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094462	0.94149	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	4.59	4.59	0.56863	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.90814	3.15	0.53688	D	0.999978	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.989;0.998;0.982;0.989;0.989;0.999;0.982	D	0.99709	1.1006	10	0.87932	D	0	.	17.6188	0.88075	0.0:1.0:0.0:0.0	.	965;965;965;965;965;965;965	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	965	ENSP00000398962:R965H;ENSP00000398266:R965H;ENSP00000410257:R965H;ENSP00000388797:R965H;ENSP00000397915:R965H;ENSP00000416634:R965H;ENSP00000328968:R965H;ENSP00000399524:R965H;ENSP00000403355:R965H;ENSP00000413996:R965H	ENSP00000328968:R965H	R	-	2	0	SCN5A	38597760	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.651000	0.83577	2.399000	0.81585	0.655000	0.94253	CGC		PASS	0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		10	19	10	19	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57493430	57493430	+	Silent	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:57493430A>C	ENST00000351747.2	-	8	1017	c.837T>G	c.(835-837)ggT>ggG	p.G279G	DNAH12_ENST00000311202.6_Silent_p.G279G|DNAH12_ENST00000389536.4_Silent_p.G279G	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	279	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G279G(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CAGGTTTAACACCTTCTAGTG	0.308																																						uc003dit.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(835-837)GGT>GGG		dynein heavy chain domain 2 isoform 1							143.0	136.0	139.0					3																	57493430		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493430A>C	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.837T>G	3.37:g.57493430A>C						DNAH12_uc003diu.2_Silent_p.G279G	p.G279G	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			8	1018	-			279			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.837T>G																																																																																					PASS	0.308	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		55	152	55	152	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108812288	108812288	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:108812288C>T	ENST00000483760.1	-	8	727	c.684G>A	c.(682-684)ctG>ctA	p.L228L	MORC1_ENST00000232603.5_Silent_p.L228L					MORC family CW-type zinc finger 1									p.L228L(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						CATACTCCTCCAGAGCTCCAG	0.438																																						uc003dxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(682-684)CTG>CTA		MORC family CW-type zinc finger 1							155.0	136.0	142.0					3																	108812288		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812288C>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.684G>A	3.37:g.108812288C>T						MORC1_uc011bhn.1_Silent_p.L228L	p.L228L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			8	771	-			228						Silent	SNP	ENST00000483760.1	37	c.684G>A																																																																																					PASS	0.438	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			45	88	45	88	---	---	---	---
C3orf52	79669	broad.mit.edu	37	3	111831716	111831717	+	Intron	DNP	GC	GC	TG			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:111831716_111831717GC>TG	ENST00000264848.5	+	5	526				C3orf52_ENST00000467942.2_Intron|C3orf52_ENST00000431717.2_Intron|MIR567_ENST00000385205.1_RNA|C3orf52_ENST00000430855.1_Intron	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GGAAGAACATGCAAAACTAAAA	0.327																																						hsa-mir-567|MI0003573																			0					0																																												SO:0001627	intron_variant	693152							g.chr3:111831716G>T|g.chr3:111831717C>G	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	Exception_encountered	3.37:g.111831716_111831717delinsTG						C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron										+								B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	RNA	SNP	ENST00000264848.5	37	c.69G>T|c.70C>G	CCDS46887.1																																																																																				PASS	0.327	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1	NM_024616		4|5	26|27	4	26	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379588	127379588	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:127379588G>T	ENST00000342480.6	+	3	756	c.717G>T	c.(715-717)atG>atT	p.M239I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	239					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.M239I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGAGCAGCATGGGGCCCAGCT	0.632																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(715-717)ATG>ATT		podocalyxin-like 2 precursor							56.0	63.0	61.0					3																	127379588		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379588G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.717G>T	3.37:g.127379588G>T	ENSP00000345359:p.Met239Ile						p.M239I	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	741	+			239			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.717G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.957979	0.18507	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.22945	1.93	4.67	2.13	0.27403	.	0.555420	0.18210	N	0.148226	T	0.16685	0.0401	L	0.29908	0.895	0.23550	N	0.997436	B	0.02656	0.0	B	0.04013	0.001	T	0.25467	-1.0131	10	0.19590	T	0.45	-1.1804	10.4252	0.44373	0.1271:0.0:0.8729:0.0	.	239	Q9NZ53	PDXL2_HUMAN	I	239	ENSP00000345359:M239I	ENSP00000304498:M239I	M	+	3	0	PODXL2	128862278	0.999000	0.42202	0.959000	0.39883	0.725000	0.41563	1.157000	0.31724	0.334000	0.23590	0.491000	0.48974	ATG		PASS	0.632	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		56	103	56	103	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132221231	132221231	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:132221231G>T	ENST00000260818.6	+	40	4883	c.4635G>T	c.(4633-4635)tgG>tgT	p.W1545C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1545					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.W1545C(1)|p.W928C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTGTGGTATCTCCTTG	0.413																																						uc003eor.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(4633-4635)TGG>TGT		DnaJ (Hsp40) homolog, subfamily C, member 13							157.0	150.0	152.0					3																	132221231		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132221231G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4635G>T	3.37:g.132221231G>T	ENSP00000260818:p.Trp1545Cys						p.W1545C	NM_015268	NP_056083	O75165	DJC13_HUMAN			40	4700	+			1545					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4635G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369926	0.82573	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.48522	0.81	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78927	-0.2011	10	0.87932	D	0	.	19.7461	0.96252	0.0:0.0:1.0:0.0	.	1545	O75165	DJC13_HUMAN	C	1545;192	ENSP00000260818:W1545C	ENSP00000260818:W1545C	W	+	3	0	DNAJC13	133703921	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.593000	0.98250	2.645000	0.89757	0.650000	0.86243	TGG		PASS	0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		38	241	38	241	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	141006283	141006283	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:141006283C>G	ENST00000286353.4	+	5	630	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V	ACPL2_ENST00000508812.1_Missense_Mutation_p.L156V|ACPL2_ENST00000393007.1_Missense_Mutation_p.L149V|ACPL2_ENST00000504264.1_Missense_Mutation_p.L148V|ACPL2_ENST00000393010.2_Missense_Mutation_p.L165V|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.L127V	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		165						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.L165V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GATGGGAGAGCTCACACAGAC	0.547																																						uc003etu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)CTC>GTC		acid phosphatase-like 2 precursor							109.0	105.0	107.0					3																	141006283		2203	4300	6503	SO:0001583	missense	92370					extracellular region	acid phosphatase activity	g.chr3:141006283C>G																												ENST00000286353.4:c.493C>G	3.37:g.141006283C>G	ENSP00000286353:p.Leu165Val					ACPL2_uc003etv.2_Missense_Mutation_p.L165V|ACPL2_uc011bna.1_Missense_Mutation_p.L127V|ACPL2_uc011bnb.1_Missense_Mutation_p.L148V	p.L165V	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			7	792	+			165					D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	c.493C>G	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604524	0.87157	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000512457;ENST00000504264;ENST00000508812;ENST00000393007	D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97702	1.0185	10	0.87932	D	0	.	17.4922	0.87707	0.0:1.0:0.0:0.0	.	148;165	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	V	165;127;165;127;148;156;149	ENSP00000286353:L165V;ENSP00000422558:L127V;ENSP00000376733:L165V;ENSP00000423702:L127V;ENSP00000426877:L148V;ENSP00000422901:L156V;ENSP00000376731:L149V	ENSP00000286353:L165V	L	+	1	0	ACPL2	142488973	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.744000	0.85034	2.724000	0.93272	0.561000	0.74099	CTC		PASS	0.547	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			81	397	81	397	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	142985589	142985589	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:142985589A>T	ENST00000316549.6	-	16	2101	c.1893T>A	c.(1891-1893)taT>taA	p.Y631*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	631					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.Y631*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCTTGAGTTCATAGCCTCCCA	0.483																																						uc003evn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1891-1893)TAT>TAA		solute carrier family 9 (sodium/hydrogen							118.0	111.0	113.0					3																	142985589		2203	4300	6503	SO:0001587	stop_gained	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985589A>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1893T>A	3.37:g.142985589A>T	ENSP00000320246:p.Tyr631*						p.Y631*	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	2075	-			631					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.1893T>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	A	38	7.157543	0.98103	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.69	0.67	0.17923	.	0.171581	0.41294	D	0.000906	.	.	.	.	.	.	0.51012	D	0.999903	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8507	0.41055	0.617:0.0:0.383:0.0	.	.	.	.	X	631	.	ENSP00000320246:Y631X	Y	-	3	2	SLC9A9	144468279	0.943000	0.32029	0.993000	0.49108	0.998000	0.95712	0.256000	0.18351	0.095000	0.17434	0.528000	0.53228	TAT		PASS	0.483	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		67	129	67	129	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149374962	149374962	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:149374962C>A	ENST00000465804.1	-	3	388	c.132G>T	c.(130-132)cgG>cgT	p.R44R	WWTR1_ENST00000360632.3_Silent_p.R44R|WWTR1_ENST00000467467.1_Silent_p.R44R|WWTR1-AS1_ENST00000479752.1_RNA|WWTR1-AS1_ENST00000466836.1_RNA|WWTR1-AS1_ENST00000495094.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	44					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R44R(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATCTTCTTCCGCCACGAGC	0.627			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2				Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(130-132)CGG>CGT		WW domain containing transcription regulator 1							27.0	28.0	28.0					3																	149374962		2202	4300	6502	SO:0001819	synonymous_variant	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149374962C>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.132G>T	3.37:g.149374962C>A						WWTR1_uc003exf.2_Silent_p.R44R|WWTR1_uc011bns.1_Silent_p.R44R|WWTR1_uc003exh.2_Silent_p.R44R|uc010hvg.1_RNA|uc003exi.1_5'Flank	p.R44R	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	148	-			44					D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000465804.1	37	c.132G>T	CCDS3144.1																																																																																				PASS	0.627	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		26	13	26	13	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157031515	157031515	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:157031515C>G	ENST00000362010.2	-	11	2212	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.Q635H|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	635						plasma membrane (GO:0005886)		p.Q635H(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAGAATGACTCTGAATGGACA	0.463																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1903-1905)CAG>CAC		ventricular zone expressed PH domain homolog 1							79.0	82.0	81.0					3																	157031515		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157031515C>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1905G>C	3.37:g.157031515C>G	ENSP00000354919:p.Gln635His					VEPH1_uc003fbk.1_Missense_Mutation_p.Q635H|VEPH1_uc010hvu.1_Intron	p.Q635H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		11	2222	-			635					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1905G>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010508	0.19277	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.08634	3.07;3.07	4.74	1.39	0.22231	.	0.187687	0.47093	D	0.000254	T	0.04861	0.0131	N	0.19112	0.55	0.80722	D	1	P	0.50066	0.931	B	0.43331	0.416	T	0.50389	-0.8834	10	0.37606	T	0.19	-5.4378	3.4536	0.07507	0.0:0.3771:0.1995:0.4234	.	635	Q14D04	MELT_HUMAN	H	635	ENSP00000354919:Q635H;ENSP00000376577:Q635H	ENSP00000354919:Q635H	Q	-	3	2	VEPH1	158514209	0.308000	0.24509	0.786000	0.31890	0.633000	0.38033	-0.530000	0.06179	0.522000	0.28464	0.484000	0.47621	CAG		PASS	0.463	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		57	210	57	210	---	---	---	---
SI	6476	broad.mit.edu	37	3	164757683	164757683	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:164757683G>C	ENST00000264382.3	-	19	2298	c.2236C>G	c.(2236-2238)Cta>Gta	p.L746V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	746	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.L746V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCTGTTTTAGAACAGGAGTA	0.348										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2236-2238)CTA>GTA		sucrase-isomaltase	Acarbose(DB00284)						102.0	107.0	105.0					3																	164757683		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757683G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2236C>G	3.37:g.164757683G>C	ENSP00000264382:p.Leu746Val	HNSCC(35;0.089)					p.L746V	NM_001041	NP_001032	P14410	SUIS_HUMAN			19	2298	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	746			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2236C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353227	0.41700	.	.	ENSG00000090402	ENST00000264382	D	0.91740	-2.9	4.81	1.05	0.20165	.	0.077879	0.49305	D	0.000145	D	0.90490	0.7021	M	0.64567	1.98	0.29195	N	0.875617	P	0.39696	0.683	P	0.48334	0.574	D	0.85168	0.0996	10	0.87932	D	0	.	3.2521	0.06818	0.3959:0.0:0.4032:0.2009	.	746	P14410	SUIS_HUMAN	V	746	ENSP00000264382:L746V	ENSP00000264382:L746V	L	-	1	2	SI	166240377	1.000000	0.71417	0.960000	0.40013	0.605000	0.37080	1.472000	0.35376	0.347000	0.23924	-0.259000	0.10710	CTA		PASS	0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		82	278	82	278	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905998	164905998	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:164905998G>C	ENST00000475390.1	-	2	3064	c.2621C>G	c.(2620-2622)cCt>cGt	p.P874R	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P874R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	874					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P874R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCCTCCCCCAGGAGGAAACAG	0.577										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2620-2622)CCT>CGT		slit and trk like 3 protein precursor							59.0	56.0	57.0					3																	164905998		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164905998G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2621C>G	3.37:g.164905998G>C	ENSP00000420091:p.Pro874Arg	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.P874R	p.P874R	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3065	-			874			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2621C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133184	0.37630	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.61274	0.12;0.12	5.75	5.75	0.90469	.	0.000000	0.34362	N	0.004036	T	0.48750	0.1517	N	0.14661	0.345	0.38162	D	0.939053	B	0.32160	0.358	B	0.37346	0.247	T	0.57069	-0.7874	10	0.87932	D	0	-10.6738	18.724	0.91705	0.0:0.0:1.0:0.0	.	874	O94933	SLIK3_HUMAN	R	874	ENSP00000420091:P874R;ENSP00000241274:P874R	ENSP00000241274:P874R	P	-	2	0	SLITRK3	166388692	1.000000	0.71417	0.852000	0.33557	0.859000	0.49053	3.179000	0.50887	2.719000	0.93026	0.655000	0.94253	CCT		PASS	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		67	211	67	211	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183855722	183855722	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:183855722G>A	ENST00000273783.3	+	4	665	c.543G>A	c.(541-543)atG>atA	p.M181I	EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608135.1_RNA|RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000444495.1_Missense_Mutation_p.M181I	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	181					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.M181I(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTTCTGTGATGACGATGATCT	0.478																																						uc003fmp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(541-543)ATG>ATA		eukaryotic translation initiation factor 2B,							51.0	49.0	50.0					3																	183855722		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855722G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.543G>A	3.37:g.183855722G>A	ENSP00000273783:p.Met181Ile					EIF2B5_uc003fmq.2_5'UTR	p.M181I	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	907	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		181					Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.543G>A	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.543238	0.86022	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.93712	-3.27;-3.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.89840	3.065	0.80722	D	1	P	0.42692	0.787	B	0.43251	0.413	D	0.95820	0.8849	10	0.59425	D	0.04	-31.1134	19.5766	0.95447	0.0:0.0:1.0:0.0	.	181	Q13144	EI2BE_HUMAN	I	181	ENSP00000273783:M181I;ENSP00000409142:M181I	ENSP00000273783:M181I	M	+	3	0	EIF2B5	185338416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	ATG		PASS	0.478	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			24	186	24	186	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184038451	184038451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:184038451G>T	ENST00000346169.2	+	8	842	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	EIF4G1_ENST00000427845.1_Missense_Mutation_p.D104Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D104Y|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D151Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D191Y|EIF4G1_ENST00000434061.2_5'UTR|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D198Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D27Y|EIF4G1_ENST00000435046.2_5'Flank|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D198Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D151Y|EIF4G1_ENST00000342981.4_Missense_Mutation_p.D191Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D198Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D27Y|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	191	PABPC1-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D191Y(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAGGAAAGGATATCACAGA	0.552																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(571-573)GAT>TAT		eukaryotic translation initiation factor 4							107.0	95.0	99.0					3																	184038451		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184038451G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.571G>T	3.37:g.184038451G>T	ENSP00000316879:p.Asp191Tyr					EIF4G1_uc003fno.1_Missense_Mutation_p.D132Y|EIF4G1_uc010hxw.1_Missense_Mutation_p.D27Y|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.D104Y|EIF4G1_uc003fnr.2_Missense_Mutation_p.D27Y|EIF4G1_uc010hxx.2_Missense_Mutation_p.D198Y|EIF4G1_uc003fns.2_Missense_Mutation_p.D151Y|EIF4G1_uc010hxy.2_Missense_Mutation_p.D198Y|EIF4G1_uc010hxz.1_Missense_Mutation_p.D104Y|EIF4G1_uc003fnv.3_Missense_Mutation_p.D191Y|EIF4G1_uc003fnu.3_Missense_Mutation_p.D191Y|EIF4G1_uc003fnw.2_Missense_Mutation_p.D198Y|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR	p.D191Y	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	769	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		191			PABPC1-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.571G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991016	0.74703	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.38;1.91;1.91;1.91;1.91;1.91;1.91;1.91;-0.19;1.34	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.68689	-0.5342	10	0.02654	T	1	-14.0072	18.6627	0.91477	0.0:0.0:1.0:0.0	.	198;191;191;198	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Y	191;151;104;191;198;198;132;27;198;104;191;191;198;141;151;27;27	ENSP00000316879:D191Y;ENSP00000391935:D151Y;ENSP00000376320:D104Y;ENSP00000391412:D191Y;ENSP00000413159:D198Y;ENSP00000371767:D198Y;ENSP00000403269:D132Y;ENSP00000317600:D27Y;ENSP00000338020:D198Y;ENSP00000407682:D104Y;ENSP00000343450:D191Y;ENSP00000323737:D191Y;ENSP00000416255:D198Y;ENSP00000415943:D141Y;ENSP00000395974:D151Y;ENSP00000398145:D27Y;ENSP00000399858:D27Y	ENSP00000323737:D191Y	D	+	1	0	EIF4G1	185521145	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.263000	0.95617	2.656000	0.90262	0.655000	0.94253	GAT		PASS	0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		12	211	12	211	---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186760650	186760650	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:186760650A>T	ENST00000169298.3	+	4	833	c.159A>T	c.(157-159)aaA>aaT	p.K53N	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.K53N|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	53					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)	p.K53N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTCTGGGGAAATTGGCCATGG	0.517																																						uc003frb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(157-159)AAA>AAT		ST6 beta-galactosamide							80.0	86.0	84.0					3																	186760650		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760650A>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.159A>T	3.37:g.186760650A>T	ENSP00000169298:p.Lys53Asn					ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.K53N	p.K53N	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	591	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		53			Lumenal (Potential).		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.159A>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398389	0.25205	.	.	ENSG00000073849	ENST00000169298;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.25912	1.77;1.77	5.38	0.133	0.14766	.	0.276328	0.40728	N	0.001023	T	0.18964	0.0455	L	0.56769	1.78	0.09310	N	1	B	0.19583	0.037	B	0.15870	0.014	T	0.16660	-1.0395	10	0.54805	T	0.06	-24.8923	2.5471	0.04740	0.4669:0.0:0.1893:0.3438	.	53	P15907	SIAT1_HUMAN	N	53	ENSP00000169298:K53N;ENSP00000389337:K53N	ENSP00000169298:K53N	K	+	3	2	ST6GAL1	188243344	0.000000	0.05858	0.252000	0.24328	0.024000	0.10985	-0.259000	0.08721	0.412000	0.25729	0.459000	0.35465	AAA		PASS	0.517	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		58	486	58	486	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186943130	186943130	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:186943130C>G	ENST00000337774.5	-	13	2112	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	575	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.E575Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGGTCCCTCAGGCAGACAG	0.587																																						uc003frh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1723-1725)GAG>CAG		mannan-binding lectin serine protease 1 isoform							136.0	118.0	124.0					3																	186943130		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186943130C>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1723G>C	3.37:g.186943130C>G	ENSP00000336792:p.Glu575Gln						p.E575Q	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	13	2055	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		575			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1723G>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	7.731	0.699224	0.15106	.	.	ENSG00000127241	ENST00000337774	D	0.88818	-2.43	5.9	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81264	0.4786	L	0.27053	0.805	0.36552	D	0.87194	B	0.06786	0.001	B	0.10450	0.005	T	0.75997	-0.3120	9	0.29301	T	0.29	.	11.0922	0.48123	0.1403:0.7134:0.1463:0.0	.	575	P48740	MASP1_HUMAN	Q	575	ENSP00000336792:E575Q	ENSP00000336792:E575Q	E	-	1	0	MASP1	188425824	0.286000	0.24305	0.014000	0.15608	0.108000	0.19459	1.497000	0.35649	0.838000	0.34948	0.563000	0.77884	GAG		PASS	0.587	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		78	335	78	335	---	---	---	---
XXYLT1	152002	broad.mit.edu	37	3	194877186	194877186	+	Silent	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:194877186T>A	ENST00000310380.6	-	3	885	c.777A>T	c.(775-777)ccA>ccT	p.P259P	XXYLT1_ENST00000355729.4_Silent_p.P56P|XXYLT1_ENST00000429994.1_Silent_p.P113P|XXYLT1_ENST00000437101.1_Silent_p.P56P	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	259						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.P259P(1)									ACCTGTAAACTGGCTGCATCT	0.567																																						uc003fum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)CCA>CCT		hypothetical protein LOC152002							53.0	60.0	58.0					3																	194877186		1965	4134	6099	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194877186T>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.777A>T	3.37:g.194877186T>A						C3orf21_uc003ful.2_Silent_p.P56P|C3orf21_uc011bsw.1_Silent_p.P113P	p.P259P	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	3	885	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		259					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.777A>T	CCDS43188.1																																																																																				PASS	0.567	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		52	143	52	143	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195486098	195486098	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:195486098C>T	ENST00000346145.4	-	16	2214	c.2175G>A	c.(2173-2175)gtG>gtA	p.V725V	MUC4_ENST00000475231.1_Silent_p.V4909V|MUC4_ENST00000349607.4_Silent_p.V674V|MUC4_ENST00000463781.3_Silent_p.V4961V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1718					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4833V(1)|p.V4961V(1)|p.V725V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTTCAATCACACGACCAC	0.547																																						uc011bto.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(14497-14499)GTG>GTA		mucin 4 isoform a							243.0	234.0	237.0					3																	195486098		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195486098C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2175G>A	3.37:g.195486098C>T						MUC4_uc003fuz.2_Silent_p.V559V|MUC4_uc003fva.2_Silent_p.V441V|MUC4_uc003fvb.2_Silent_p.V477V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.V477V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.V441V|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.V525V|MUC4_uc011bti.1_Silent_p.V525V|MUC4_uc011btj.1_Silent_p.V702V|MUC4_uc011btk.1_Silent_p.V441V|MUC4_uc011btl.1_Silent_p.V470V|MUC4_uc011btm.1_Silent_p.V650V|MUC4_uc011btn.1_Silent_p.V441V|MUC4_uc003fvo.2_Silent_p.V725V|MUC4_uc003fvp.2_Silent_p.V674V	p.V4833V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	18	14959	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1718					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14499G>A	CCDS3310.1																																																																																				PASS	0.547	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		112	714	112	714	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197423861	197423861	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr3:197423861C>T	ENST00000296343.5	-	8	1320	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	KIAA0226_ENST00000273582.5_Missense_Mutation_p.E396K|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E441K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	441	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.E441K(1)|p.E396K(1)|p.E289K(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGCTGACTTCACTGCTTTGA	0.468																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1321-1323)GAA>AAA		hypothetical protein LOC9711 isoform 2.							119.0	121.0	120.0					3																	197423861		2013	4166	6179	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197423861C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1321G>A	3.37:g.197423861C>T	ENSP00000296343:p.Glu441Lys					KIAA0226_uc003fyd.3_Missense_Mutation_p.E396K|KIAA0226_uc003fye.1_Missense_Mutation_p.E148K|KIAA0226_uc003fyf.2_Missense_Mutation_p.E289K	p.E441K	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	8	1504	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		441			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1321G>A	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892528	0.52121	.	.	ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665	.	.	.	5.63	4.76	0.60689	.	0.167974	0.38492	U	0.001679	T	0.31295	0.0792	N	0.25647	0.755	0.27183	N	0.960623	B;B;B;B	0.30281	0.275;0.063;0.063;0.01	B;B;B;B	0.30495	0.116;0.022;0.022;0.01	T	0.20840	-1.0263	9	0.41790	T	0.15	.	12.7348	0.57216	0.0:0.9242:0.0:0.0758	.	289;441;396;441	Q5HYI6;Q92622-3;Q92622-2;Q92622	.;.;.;RUBIC_HUMAN	K	396;441;441	.	ENSP00000273582:E396K	E	-	1	0	KIAA0226	198908258	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.551000	0.60740	1.380000	0.46344	0.655000	0.94253	GAA		PASS	0.468	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		38	139	38	139	---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2951675	2951675	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:2951675G>C	ENST00000314262.6	-	8	1316	c.1268C>G	c.(1267-1269)cCc>cGc	p.P423R	NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.P423R|NOP14_ENST00000502735.1_Missense_Mutation_p.P423R|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.P423R	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	423					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.P423R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GAACGTGTAGGGCAGCTCGTC	0.552																																						uc003ggj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1267-1269)CCC>CGC		probable nucleolar complex protein 14							218.0	215.0	216.0					4																	2951675		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2951675G>C	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1268C>G	4.37:g.2951675G>C	ENSP00000315674:p.Pro423Arg					C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.P169R|NOP14_uc003ggk.3_Missense_Mutation_p.P423R|NOP14_uc003ggl.2_Missense_Mutation_p.P423R	p.P423R	NM_003703	NP_003694	P78316	NOP14_HUMAN			8	1340	-			423					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1268C>G	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019130	0.54576	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77242	-0.2660	10	0.87932	D	0	-27.4368	17.3072	0.87198	0.0:0.0:1.0:0.0	.	216;423;423	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	R	423;423;423;423;322	ENSP00000405068:P423R;ENSP00000315674:P423R;ENSP00000427415:P423R;ENSP00000381146:P423R	ENSP00000315674:P423R	P	-	2	0	NOP14	2921473	1.000000	0.71417	0.997000	0.53966	0.064000	0.16182	7.582000	0.82546	2.430000	0.82344	0.655000	0.94253	CCC		PASS	0.552	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		101	212	101	212	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8602926	8602926	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:8602926G>T	ENST00000360986.4	+	3	372	c.198G>T	c.(196-198)caG>caT	p.Q66H	CPZ_ENST00000315782.6_Missense_Mutation_p.Q55H|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	66	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q66H(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCTGCTTCAGCACCGGTCAT	0.652																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(196-198)CAG>CAT		carboxypeptidase Z isoform 1							70.0	54.0	60.0					4																	8602926		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8602926G>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.198G>T	4.37:g.8602926G>T	ENSP00000354255:p.Gln66His					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.Q55H|CPZ_uc003glp.2_RNA	p.Q66H	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	324	+			66			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.198G>T	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540505	0.27563	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.79653	-1.29;-1.29	3.59	0.274	0.15654	Frizzled domain (5);	0.522828	0.19806	N	0.105643	T	0.63260	0.2496	N	0.11789	0.175	0.80722	D	1	P;P	0.41214	0.697;0.742	B;P	0.45558	0.332;0.485	T	0.57711	-0.7764	10	0.59425	D	0.04	-6.7105	1.7638	0.02998	0.1203:0.1301:0.3303:0.4194	.	55;66	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	66;55	ENSP00000354255:Q66H;ENSP00000315074:Q55H	ENSP00000315074:Q55H	Q	+	3	2	CPZ	8653826	1.000000	0.71417	0.388000	0.26195	0.220000	0.24768	0.870000	0.28010	0.183000	0.20059	0.561000	0.74099	CAG		PASS	0.652	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		56	25	56	25	---	---	---	---
PHOX2B	8929	broad.mit.edu	37	4	41750405	41750405	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:41750405T>A	ENST00000226382.2	-	1	582	c.223A>T	c.(223-225)Agc>Tgc	p.S75C	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	75					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.S75C(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TACGGACTGCTCTGGTGGTCC	0.582			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		1	Substitution - Missense(1)		lung(1)	autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(223-225)AGC>TGC		paired-like homeobox 2b							36.0	38.0	38.0					4																	41750405		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750405T>A	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.223A>T	4.37:g.41750405T>A	ENSP00000226382:p.Ser75Cys						p.S75C	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			1	583	-			75					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.223A>T	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016696	0.54468	.	.	ENSG00000109132	ENST00000226382	D	0.92199	-2.99	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	N	0.14661	0.345	0.58432	D	0.999995	D	0.69078	0.997	P	0.61477	0.889	D	0.91392	0.5136	10	0.38643	T	0.18	.	15.6975	0.77512	0.0:0.0:0.0:1.0	.	75	Q99453	PHX2B_HUMAN	C	75	ENSP00000226382:S75C	ENSP00000226382:S75C	S	-	1	0	PHOX2B	41445162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.102000	0.71486	2.113000	0.64589	0.459000	0.35465	AGC		PASS	0.582	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			28	63	28	63	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060612	46060612	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:46060612T>C	ENST00000295452.4	-	6	820	c.653A>G	c.(652-654)tAt>tGt	p.Y218C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	218					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.Y218C(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)	TTTCCACTTATACTCAATTTC	0.358																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)TAT>TGT		gamma-aminobutyric acid A receptor, gamma 1							60.0	59.0	60.0					4																	46060612		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060612T>C	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.653A>G	4.37:g.46060612T>C	ENSP00000295452:p.Tyr218Cys						p.Y218C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	805	-			218			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.653A>G	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270726	0.80469	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80214	-1.35	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.124264	0.56097	D	0.000027	D	0.92335	0.7568	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.94266	0.7506	10	0.87932	D	0	.	15.4245	0.75041	0.0:0.0:0.0:1.0	.	218	Q8N1C3	GBRG1_HUMAN	C	218	ENSP00000295452:Y218C	ENSP00000295452:Y218C	Y	-	2	0	GABRG1	45755369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.967000	0.87967	2.239000	0.73571	0.529000	0.55759	TAT		PASS	0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		18	87	18	87	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930261	46930261	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:46930261T>A	ENST00000264318.3	-	9	2628	c.1646A>T	c.(1645-1647)aAa>aTa	p.K549I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	549					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K549I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACTTTCTGATTTCTCCATAGT	0.289																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1645-1647)AAA>ATA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						45.0	49.0	47.0					4																	46930261		2203	4298	6501	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930261T>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1646A>T	4.37:g.46930261T>A	ENSP00000264318:p.Lys549Ile						p.K549I	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1785	-			549					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1646A>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339353	0.41398	.	.	ENSG00000109158	ENST00000264318	T	0.81247	-1.47	5.52	4.34	0.51931	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.268446	0.38164	N	0.001782	T	0.59662	0.2210	N	0.14661	0.345	0.33708	D	0.615475	B	0.31581	0.329	B	0.22386	0.039	T	0.64474	-0.6399	10	0.12430	T	0.62	.	10.4151	0.44316	0.0:0.0764:0.0:0.9236	.	549	P48169	GBRA4_HUMAN	I	549	ENSP00000264318:K549I	ENSP00000264318:K549I	K	-	2	0	GABRA4	46625018	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	3.119000	0.50422	2.232000	0.73038	0.528000	0.53228	AAA		PASS	0.289	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			52	85	52	85	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47939169	47939169	+	Missense_Mutation	SNP	C	C	A	rs575292558		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:47939169C>A	ENST00000514170.1	-	11	1661	c.1342G>T	c.(1342-1344)Gtt>Ttt	p.V448F	CNGA1_ENST00000420489.2_Missense_Mutation_p.V448F|CNGA1_ENST00000402813.3_Missense_Mutation_p.V517F|CNGA1_ENST00000358519.4_Missense_Mutation_p.V448F|CNGA1_ENST00000544810.1_Missense_Mutation_p.V448F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	448					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	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.V448F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTCATCAACTGTTTTTTTG	0.338																																						uc003gxt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1342-1344)GTT>TTT		cyclic nucleotide gated channel alpha 1 isoform							145.0	139.0	141.0					4																	47939169		1867	4102	5969	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939169C>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1342G>T	4.37:g.47939169C>A	ENSP00000426862:p.Val448Phe					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V517F	p.V448F	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1608	-			448			Extracellular (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1342G>T	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246201	0.59103	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.02	5.02	0.67125	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.94212	0.8142	L	0.57536	1.79	0.54753	D	0.999985	B;B	0.32040	0.353;0.353	B;B	0.26517	0.07;0.07	D	0.93093	0.6501	10	0.20519	T	0.43	.	18.3597	0.90371	0.0:1.0:0.0:0.0	.	448;448	Q4W5E3;P29973	.;CNGA1_HUMAN	F	517;448;448;448;448	ENSP00000384264:V517F;ENSP00000426862:V448F;ENSP00000443401:V448F;ENSP00000351320:V448F;ENSP00000389881:V448F	ENSP00000351320:V448F	V	-	1	0	CNGA1	47633926	0.994000	0.37717	1.000000	0.80357	0.795000	0.44927	3.740000	0.55082	2.326000	0.78906	0.491000	0.48974	GTT		PASS	0.338	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		76	367	76	367	---	---	---	---
ART3	419	broad.mit.edu	37	4	77003475	77003475	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:77003475A>G	ENST00000355810.4	+	3	687	c.568A>G	c.(568-570)Aaa>Gaa	p.K190E	ART3_ENST00000341029.5_Missense_Mutation_p.K190E|ART3_ENST00000349321.3_Missense_Mutation_p.K190E|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	190					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K190E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATATTCAGCCAAACCTCAGGC	0.408																																						uc003hjo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(568-570)AAA>GAA		ADP-ribosyltransferase 3 isoform a							45.0	42.0	43.0					4																	77003475		2203	4300	6503	SO:0001583	missense	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77003475A>G	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.568A>G	4.37:g.77003475A>G	ENSP00000348064:p.Lys190Glu					ART3_uc003hji.2_Missense_Mutation_p.K190E|ART3_uc003hjj.2_Missense_Mutation_p.K190E|ART3_uc003hjk.2_Missense_Mutation_p.K190E|ART3_uc010ija.1_Missense_Mutation_p.K190E|ART3_uc003hjn.2_Missense_Mutation_p.K190E|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.K160E|ART3_uc010ijc.2_Missense_Mutation_p.K160E|ART3_uc010ijd.2_Missense_Mutation_p.K160E	p.K190E	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	687	+			190					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	c.568A>G	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891294	0.33442	.	.	ENSG00000156219	ENST00000341029;ENST00000513122;ENST00000355810;ENST00000349321	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	6.04	2.25	0.28309	.	0.932344	0.09225	N	0.831353	T	0.22898	0.0553	M	0.65498	2.005	0.09310	N	1	D;P;D;D;D;B	0.67145	0.975;0.892;0.996;0.989;0.969;0.321	P;P;D;D;P;B	0.65573	0.784;0.579;0.936;0.92;0.825;0.281	T	0.09530	-1.0670	9	.	.	.	-8.8638	7.796	0.29148	0.7089:0.0:0.2911:0.0	.	160;190;190;190;190;190	D6RBN3;E7ESB3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;.;NAR3_HUMAN;.;.	E	190	ENSP00000343843:K190E;ENSP00000422287:K190E;ENSP00000348064:K190E;ENSP00000304313:K190E	.	K	+	1	0	ART3	77222499	0.002000	0.14202	0.172000	0.22920	0.151000	0.21798	1.681000	0.37618	0.552000	0.29026	0.460000	0.39030	AAA		PASS	0.408	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		5	116	5	116	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677699	77677699	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:77677699A>T	ENST00000296043.6	+	8	5760	c.4807A>T	c.(4807-4809)Act>Tct	p.T1603S	RP11-359D14.3_ENST00000449007.1_RNA|RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1603					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.T1602S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGACTCCAAACTTCTATCAA	0.532																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4807-4809)ACT>TCT		shroom family member 3 protein							69.0	69.0	69.0					4																	77677699		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77677699A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4807A>T	4.37:g.77677699A>T	ENSP00000296043:p.Thr1603Ser					SHROOM3_uc003hkg.2_Missense_Mutation_p.T1381S	p.T1603S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		8	5760	+			1603					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.4807A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034690	0.35893	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.21543	2.0	5.27	-8.53	0.00916	.	1.792790	0.02556	N	0.096237	T	0.12646	0.0307	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.23940	-1.0174	10	0.14656	T	0.56	-0.0265	1.6752	0.02820	0.2268:0.1784:0.3607:0.2341	.	1603	Q8TF72	SHRM3_HUMAN	S	1603;80	ENSP00000296043:T1603S	ENSP00000264907:T80S	T	+	1	0	SHROOM3	77896723	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-0.925000	0.03992	-1.231000	0.02557	-0.361000	0.07541	ACT		PASS	0.532	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		8	77	8	77	---	---	---	---
SOWAHB	345079	broad.mit.edu	37	4	77817078	77817078	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:77817078C>A	ENST00000334306.2	-	1	1924	c.1925G>T	c.(1924-1926)gGt>gTt	p.G642V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	642								p.G642V(1)									CCTGAGGTCACCATGTTTGGC	0.522																																						uc003hki.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1924-1926)GGT>GTT		ankyrin repeat domain 56							97.0	92.0	94.0					4																	77817078		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817078C>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1925G>T	4.37:g.77817078C>A	ENSP00000334879:p.Gly642Val						p.G642V	NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN			1	1925	-			642			ANK 1.		B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1925G>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267675	0.59540	.	.	ENSG00000186212	ENST00000334306	T	0.49432	0.78	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.64402	U	0.000007	T	0.79730	0.4496	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86306	0.1683	10	0.87932	D	0	-11.4805	18.7753	0.91908	0.0:1.0:0.0:0.0	.	642	A6NEL2	ANR56_HUMAN	V	642	ENSP00000334879:G642V	ENSP00000334879:G642V	G	-	2	0	ANKRD56	78036102	1.000000	0.71417	0.312000	0.25196	0.274000	0.26718	7.098000	0.76974	2.655000	0.90218	0.655000	0.94253	GGT		PASS	0.522	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		78	138	78	138	---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78792917	78792917	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:78792917G>T	ENST00000315567.8	+	2	380	c.51G>T	c.(49-51)agG>agT	p.R17S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	17					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R17S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						ATCATCAAAGGCATAGCCTTT	0.303																																						uc003hku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)AGG>AGT		mitochondrial ribosomal protein L1 precursor							91.0	86.0	87.0					4																	78792917		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78792917G>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.51G>T	4.37:g.78792917G>T	ENSP00000315017:p.Arg17Ser						p.R17S	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN			2	249	+			17					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.51G>T	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803369	0.31869	.	.	ENSG00000169288	ENST00000315567	T	0.55588	0.51	5.41	1.53	0.23141	Ribosomal protein L1, chordata (1);	0.157599	0.37577	U	0.002039	T	0.40171	0.1106	L	0.51422	1.61	0.20821	N	0.999849	B	0.13145	0.007	B	0.17722	0.019	T	0.22347	-1.0219	10	0.33940	T	0.23	-2.1261	5.2974	0.15760	0.1747:0.3227:0.5026:0.0	.	17	Q9BYD6	RM01_HUMAN	S	17	ENSP00000315017:R17S	ENSP00000315017:R17S	R	+	3	2	MRPL1	79011941	0.728000	0.28080	0.605000	0.28930	0.890000	0.51754	0.734000	0.26101	0.495000	0.27882	0.650000	0.86243	AGG		PASS	0.303	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		54	148	54	148	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89574024	89574024	+	Silent	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:89574024C>G	ENST00000402738.1	+	6	707	c.468C>G	c.(466-468)ggC>ggG	p.G156G	HERC3_ENST00000264345.3_Silent_p.G156G|HERC3_ENST00000407637.1_Silent_p.G156G	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	156					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.G156G(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)		TTTCAGATGGCCAGTTCTTCA	0.498																																						uc003hrw.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(466-468)GGC>GGG		hect domain and RLD 3							31.0	33.0	32.0					4																	89574024		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.chr4:89574024C>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.468C>G	4.37:g.89574024C>G						HERC3_uc003hrv.2_Silent_p.G156G|HERC3_uc011cdn.1_Silent_p.G38G	p.G156G	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	634	+			156			RCC1 4.		A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.468C>G	CCDS34028.1																																																																																				PASS	0.498	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		28	31	28	31	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91230459	91230459	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:91230459G>A	ENST00000509176.1	+	2	1312	c.1024G>A	c.(1024-1026)Gct>Act	p.A342T	CCSER1_ENST00000333691.8_Missense_Mutation_p.A342T|CCSER1_ENST00000432775.2_Missense_Mutation_p.A342T	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	342								p.A342T(2)									GGAAACCTCTGCTGCTAATCA	0.423																																						uc003hsv.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1024-1026)GCT>ACT		KIAA1680 protein isoform 1							100.0	93.0	95.0					4																	91230459		1859	4104	5963	SO:0001583	missense	401145							g.chr4:91230459G>A		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.1024G>A	4.37:g.91230459G>A	ENSP00000425040:p.Ala342Thr					FAM190A_uc003hsu.3_Missense_Mutation_p.A342T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A342T	p.A342T	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1364	+			342					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1024G>A	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943633	0.53079	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.49720	1.29;0.77;1.29	4.73	4.73	0.59995	.	0.315828	0.30510	N	0.009475	T	0.41488	0.1161	L	0.43152	1.355	0.28590	N	0.909692	B;B;B	0.33318	0.264;0.23;0.408	B;B;B	0.35727	0.131;0.124;0.209	T	0.44283	-0.9338	10	0.46703	T	0.11	-25.062	12.0602	0.53559	0.0808:0.0:0.9192:0.0	.	342;342;342	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	T	342	ENSP00000425040:A342T;ENSP00000389283:A342T;ENSP00000329482:A342T	ENSP00000329482:A342T	A	+	1	0	FAM190A	91449482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.439000	0.52878	2.570000	0.86706	0.591000	0.81541	GCT		PASS	0.423	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		53	54	53	54	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155423	106155423	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:106155423G>A	ENST00000540549.1	+	3	1184	c.324G>A	c.(322-324)caG>caA	p.Q108Q	TET2_ENST00000513237.1_Silent_p.Q129Q|TET2_ENST00000380013.4_Silent_p.Q108Q|TET2_ENST00000305737.2_Silent_p.Q108Q|TET2_ENST00000394764.1_Silent_p.Q108Q|TET2_ENST00000413648.2_Silent_p.Q108Q|TET2_ENST00000545826.1_Silent_p.Q108Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	108					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q108Q(2)|p.L107fs*8(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCTCCTTCAGATCAAGAAAT	0.418			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		3	Substitution - coding silent(2)|Deletion - Frameshift(1)	p.Q108*(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(322-324)CAG>CAA		tet oncogene family member 2 isoform a							63.0	61.0	62.0					4																	106155423		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155423G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.324G>A	4.37:g.106155423G>A						TET2_uc011cez.1_Silent_p.Q129Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q108Q|TET2_uc003hxi.1_Silent_p.Q108Q	p.Q108Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	710	+		Myeloproliferative disorder(5;0.0393)	108					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.324G>A	CCDS47120.1																																																																																				PASS	0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		25	66	25	66	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113568940	113568940	+	Silent	SNP	A	A	G	rs566464249		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:113568940A>G	ENST00000344442.5	+	8	1370	c.1092A>G	c.(1090-1092)aaA>aaG	p.K364K	MIR367_ENST00000362299.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Silent_p.K364K|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Silent_p.K371K|MIR302B_ENST00000505215.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	364	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K364K(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAAACATAAAGAGAGACATA	0.323																																						uc003iay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1090-1092)AAA>AAG		La ribonucleoprotein domain family, member 7							50.0	52.0	51.0					4																	113568940		2203	4299	6502	SO:0001819	synonymous_variant	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568940A>G	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1092A>G	4.37:g.113568940A>G						LARP7_uc003iaz.2_Silent_p.K371K|LARP7_uc003iba.2_Silent_p.K285K|LARP7_uc003ibb.2_Silent_p.K364K	p.K364K	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	8	1370	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	364			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Silent	SNP	ENST00000344442.5	37	c.1092A>G	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	A	10.09	1.256182	0.22965	.	.	ENSG00000174720	ENST00000511529	T	0.54479	0.57	5.89	1.66	0.24008	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	7	0.66056	D	0.02	-35.9151	8.7034	0.34340	0.7256:0.0:0.2744:0.0	.	.	.	.	R	158	ENSP00000426376:K158R	ENSP00000426376:K158R	K	+	2	0	LARP7	113788389	0.992000	0.36948	0.997000	0.53966	0.996000	0.88848	0.375000	0.20518	0.040000	0.15660	0.533000	0.62120	AAG		PASS	0.323	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		24	20	24	20	---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144390336	144390336	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:144390336G>C	ENST00000262994.4	+	10	2381	c.2079G>C	c.(2077-2079)gtG>gtC	p.V693V	GAB1_ENST00000262995.4_Silent_p.V723V|GAB1_ENST00000505913.1_Silent_p.V590V	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	693					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.V723V(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CGAAGAGTGTGAAATGAAAAT	0.418																																						uc003ije.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(2077-2079)GTG>GTC		GRB2-associated binding protein 1 isoform b							85.0	90.0	89.0					4																	144390336		2203	4300	6503	SO:0001819	synonymous_variant	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144390336G>C	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2079G>C	4.37:g.144390336G>C						GAB1_uc003ijd.2_Silent_p.V723V|GAB1_uc011chq.1_Silent_p.V590V	p.V693V	NM_002039	NP_002030	Q13480	GAB1_HUMAN			10	2438	+	all_hematologic(180;0.158)		693					A8K152|Q4W5G2|Q6P1W2	Silent	SNP	ENST00000262994.4	37	c.2079G>C	CCDS3759.1																																																																																				PASS	0.418	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		22	48	22	48	---	---	---	---
MMAA	166785	broad.mit.edu	37	4	146576521	146576521	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:146576521A>C	ENST00000281317.5	+	7	2402	c.1192A>C	c.(1192-1194)Att>Ctt	p.I398L	MMAA_ENST00000541599.1_Missense_Mutation_p.I117L	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	398					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.I398L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGTTCTCATTGGGGCCCT	0.413																																						uc003ikh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)ATT>CTT		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						70.0	70.0	70.0					4																	146576521		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146576521A>C	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.1192A>C	4.37:g.146576521A>C	ENSP00000281317:p.Ile398Leu					MMAA_uc010iow.2_RNA	p.I398L	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			7	1277	+	all_hematologic(180;0.151)		398					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.1192A>C	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	A	9.312	1.055926	0.19907	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	D;D	0.90900	-2.75;-2.75	5.67	-1.45	0.08828	.	0.940554	0.09177	N	0.837949	T	0.75882	0.3910	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62789	-0.6780	10	0.42905	T	0.14	-2.0E-4	2.4573	0.04532	0.5096:0.2509:0.1304:0.1092	.	398	Q8IVH4	MMAA_HUMAN	L	398;398;117	ENSP00000281317:I398L;ENSP00000442284:I117L	ENSP00000281317:I398L	I	+	1	0	MMAA	146795971	0.020000	0.18652	0.604000	0.28916	0.007000	0.05969	0.506000	0.22658	0.102000	0.17638	-1.063000	0.02288	ATT		PASS	0.413	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			34	116	34	116	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898418	175898418	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:175898418G>T	ENST00000359240.3	+	5	2412	c.1742G>T	c.(1741-1743)tGc>tTc	p.C581F	ADAM29_ENST00000514159.1_Missense_Mutation_p.C581F|ADAM29_ENST00000404450.4_Missense_Mutation_p.C581F|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.C581F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	581	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C581F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GACATAATGTGCTGGAGTACT	0.433																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1741-1743)TGC>TTC		ADAM metallopeptidase domain 29 preproprotein							202.0	186.0	191.0					4																	175898418		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898418G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1742G>T	4.37:g.175898418G>T	ENSP00000352177:p.Cys581Phe					ADAM29_uc003iud.2_Missense_Mutation_p.C581F|ADAM29_uc010irr.2_Missense_Mutation_p.C581F|ADAM29_uc011cki.1_Missense_Mutation_p.C581F	p.C581F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2412	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	581			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1742G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111868	0.37242	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	3.69	3.69	0.42338	ADAM, cysteine-rich (2);	0.000000	0.39834	U	0.001254	D	0.86632	0.5979	H	0.98786	4.33	0.33687	D	0.612843	D	0.89917	1.0	D	0.91635	0.999	D	0.93194	0.6586	9	.	.	.	.	13.721	0.62728	0.0:0.0:1.0:0.0	.	581	Q9UKF5	ADA29_HUMAN	F	581	ENSP00000352177:C581F;ENSP00000414544:C581F;ENSP00000384229:C581F;ENSP00000423517:C581F	.	C	+	2	0	ADAM29	176134993	1.000000	0.71417	0.989000	0.46669	0.152000	0.21847	6.387000	0.73191	2.351000	0.79841	0.643000	0.83706	TGC		PASS	0.433	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				80	143	80	143	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177032792	177032792	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:177032792G>A	ENST00000280190.4	+	3	289	c.133G>A	c.(133-135)Gta>Ata	p.V45I	WDR17_ENST00000507824.2_Missense_Mutation_p.V45I|WDR17_ENST00000508596.1_Missense_Mutation_p.V21I|WDR17_ENST00000393643.2_Missense_Mutation_p.V21I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	45								p.V45I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GAACAAGGATGTATGTGCTGC	0.398																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(133-135)GTA>ATA		WD repeat domain 17 isoform 1							143.0	132.0	136.0					4																	177032792		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177032792G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.133G>A	4.37:g.177032792G>A	ENSP00000280190:p.Val45Ile					WDR17_uc003iuk.2_Missense_Mutation_p.V21I|WDR17_uc003ium.3_Missense_Mutation_p.V21I|WDR17_uc003iul.1_Missense_Mutation_p.V21I	p.V45I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	3	289	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	45					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.133G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326506	0.41197	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000296524;ENST00000507824	T;T;T	0.61158	0.17;0.2;0.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.29908	0.895	0.54753	D	0.999985	B;B;B	0.16603	0.01;0.01;0.018	B;B;B	0.16289	0.015;0.015;0.015	T	0.34675	-0.9819	10	0.38643	T	0.18	-12.2957	14.621	0.68584	0.072:0.0:0.928:0.0	.	21;45;45	E7EQX0;E7ESC9;Q8IZU2	.;.;WDR17_HUMAN	I	21;21;45;21;45	ENSP00000422763:V21I;ENSP00000377258:V21I;ENSP00000280190:V45I	ENSP00000280190:V45I	V	+	1	0	WDR17	177269786	1.000000	0.71417	0.951000	0.38953	0.040000	0.13550	7.302000	0.78861	2.582000	0.87167	0.467000	0.42956	GTA		PASS	0.398	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			19	41	19	41	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184182512	184182512	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr4:184182512A>G	ENST00000403733.3	+	11	1935	c.1736A>G	c.(1735-1737)cAt>cGt	p.H579R	WWC2_ENST00000504005.1_Missense_Mutation_p.H261R|WWC2_ENST00000378925.3_Missense_Mutation_p.H481R|WWC2_ENST00000513834.1_Missense_Mutation_p.H579R|WWC2_ENST00000448232.2_Missense_Mutation_p.H579R	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	579					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.H579R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GCCTCTCTCCATCAGTTCACT	0.483																																						uc010irx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1735-1737)CAT>CGT		WW and C2 domain containing 2							92.0	69.0	77.0					4																	184182512		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182512A>G	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1736A>G	4.37:g.184182512A>G	ENSP00000384222:p.His579Arg					WWC2_uc003ivk.3_Missense_Mutation_p.H374R|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.H261R|WWC2_uc003ivn.3_Missense_Mutation_p.H143R	p.H579R	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1918	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	579					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1736A>G	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	A	8.043	0.764292	0.15914	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.11063	3.59;2.81;2.89;3.45;3.45	4.75	2.27	0.28462	.	0.378699	0.25447	N	0.030607	T	0.07773	0.0195	L	0.36672	1.1	0.32483	N	0.541287	B;B	0.18461	0.007;0.028	B;B	0.15484	0.003;0.013	T	0.23368	-1.0190	10	0.20519	T	0.43	-10.0189	7.886	0.29651	0.8351:0.0:0.1649:0.0	.	579;579	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	R	579;481;579;579;261	ENSP00000384222:H579R;ENSP00000368205:H481R;ENSP00000425054:H579R;ENSP00000398577:H579R;ENSP00000427569:H261R	ENSP00000368205:H481R	H	+	2	0	WWC2	184419506	0.991000	0.36638	0.293000	0.24932	0.916000	0.54674	1.760000	0.38430	0.322000	0.23283	0.528000	0.53228	CAT		PASS	0.483	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	14	3	14	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1432617	1432617	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:1432617G>A	ENST00000270349.9	-	4	742	c.615C>T	c.(613-615)aaC>aaT	p.N205N	SLC6A3_ENST00000453492.2_Silent_p.N205N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	205					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.N205N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAAAAGTGTCGTTGAGGCCCG	0.617																																						uc003jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(613-615)AAC>AAT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						96.0	85.0	88.0					5																	1432617		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432617G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.615C>T	5.37:g.1432617G>A							p.N205N	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	736	-			205			Extracellular (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.615C>T	CCDS3863.1																																																																																				PASS	0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		19	190	19	190	---	---	---	---
LPCAT1	79888	broad.mit.edu	37	5	1479781	1479781	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:1479781G>A	ENST00000283415.3	-	8	903	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	257					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.I257I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGAGCCACAGGATTTCCAGCC	0.463											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(769-771)ATC>ATT		lysophosphatidylcholine acyltransferase 1							147.0	115.0	126.0					5																	1479781		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1479781G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.771C>T	5.37:g.1479781G>A			OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596		p.I257I	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	8	888	-			257			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.771C>T	CCDS3864.1																																																																																				PASS	0.463	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		14	129	14	129	---	---	---	---
MRPL36	64979	broad.mit.edu	37	5	1798922	1798922	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:1798922T>C	ENST00000508987.1	-	2	264	c.128A>G	c.(127-129)gAa>gGa	p.E43G	MRPL36_ENST00000505059.2_Missense_Mutation_p.E43G|MRPL36_ENST00000382647.7_Missense_Mutation_p.E43G|MRPL36_ENST00000505818.1_Missense_Mutation_p.E43G|NDUFS6_ENST00000274137.5_5'Flank|NDUFS6_ENST00000469176.1_5'Flank			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	43					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)	p.E43G(1)		breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		TGCCCCGGGTTCCACAGCCAC	0.592																																						uc003jcx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GAA>GGA		mitochondrial ribosomal protein L36 precursor							46.0	50.0	49.0					5																	1798922		2203	4300	6503	SO:0001583	missense	64979				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr5:1798922T>C	AB049654	CCDS3865.1	5p15.3	2012-09-13			ENSG00000171421	ENSG00000171421		"""Mitochondrial ribosomal proteins / large subunits"""	14490	protein-coding gene	gene with protein product	"""putative BRCA1-interacting protein"", ""39S ribosomal protein L36, mitochondrial"""	611842				11543634	Standard	NM_032479		Approved	BRIP1, RPMJ, L36mt, PRPL36, MRP-L36	uc003jcx.4	Q9P0J6	OTTHUMG00000090373	ENST00000508987.1:c.128A>G	5.37:g.1798922T>C	ENSP00000423399:p.Glu43Gly					NDUFS6_uc003jcy.2_5'Flank	p.E43G	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN		GBM - Glioblastoma multiforme(108;0.241)	2	191	-			43					A4UCS0|B2R4Z2|Q3SWV6|Q9UKL7	Missense_Mutation	SNP	ENST00000508987.1	37	c.128A>G	CCDS3865.1	.	.	.	.	.	.	.	.	.	.	T	9.696	1.153149	0.21371	.	.	ENSG00000171421	ENST00000505818;ENST00000382647;ENST00000505059;ENST00000508987	.	.	.	3.95	-4.3	0.03710	.	3.183040	0.01585	U	0.021279	T	0.26629	0.0651	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19582	-1.0301	9	0.31617	T	0.26	.	10.4088	0.44280	0.0:0.0932:0.6971:0.2097	.	43	Q9P0J6	RM36_HUMAN	G	43	.	ENSP00000372093:E43G	E	-	2	0	MRPL36	1851922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.876000	0.00717	-0.863000	0.04084	-0.666000	0.03841	GAA		PASS	0.592	MRPL36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365908.2	NM_032479		58	117	58	117	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34824081	34824081	+	Missense_Mutation	SNP	G	G	C	rs138949061		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:34824081G>C	ENST00000265109.3	+	15	2421	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	RAI14_ENST00000512629.1_Missense_Mutation_p.E683Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E704Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E705Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E712Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E715Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E712Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	712						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E712Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGTTGAATGAGTTGACCCA	0.438																																						uc003jir.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2134-2136)GAG>CAG		retinoic acid induced 14 isoform a							84.0	82.0	83.0					5																	34824081		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824081G>C	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2134G>C	5.37:g.34824081G>C	ENSP00000265109:p.Glu712Gln					RAI14_uc010iur.2_Missense_Mutation_p.E683Q|RAI14_uc011coj.1_Missense_Mutation_p.E712Q|RAI14_uc003jis.2_Missense_Mutation_p.E715Q|RAI14_uc003jit.2_Missense_Mutation_p.E712Q|RAI14_uc011cok.1_Missense_Mutation_p.E704Q	p.E712Q	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	2330	+	all_lung(31;0.000191)		712			Potential.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.2134G>C	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507307	0.64410	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.43294	0.97;0.95;0.97;0.97;1.0;1.04;1.03	5.68	5.68	0.88126	.	.	.	.	.	T	0.57272	0.2042	L	0.34521	1.04	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.997;0.994;0.999;0.994	T	0.58719	-0.7587	9	0.72032	D	0.01	-26.0062	19.7964	0.96487	0.0:0.0:1.0:0.0	.	704;683;715;712	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	712;683;712;712;715;704;705	ENSP00000265109:E712Q;ENSP00000422377:E683Q;ENSP00000388725:E712Q;ENSP00000422942:E712Q;ENSP00000427123:E715Q;ENSP00000423854:E704Q;ENSP00000380591:E705Q	ENSP00000265109:E712Q	E	+	1	0	RAI14	34859838	1.000000	0.71417	0.786000	0.31890	0.904000	0.53231	8.819000	0.91997	2.683000	0.91414	0.555000	0.69702	GAG		PASS	0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		47	100	47	100	---	---	---	---
AGXT2	64902	broad.mit.edu	37	5	35035343	35035343	+	Missense_Mutation	SNP	C	C	G	rs201803834		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:35035343C>G	ENST00000231420.6	-	5	765	c.565G>C	c.(565-567)Gac>Cac	p.D189H	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	189					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.D189H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAATGATGTCTATGTTGTTT	0.443																																						uc003jjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(565-567)GAC>CAC		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						130.0	140.0	136.0					5																	35035343		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035343C>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.565G>C	5.37:g.35035343C>G	ENSP00000231420:p.Asp189His					AGXT2_uc011com.1_Missense_Mutation_p.D189H|AGXT2_uc011con.1_Missense_Mutation_p.D97H	p.D189H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	644	-	all_lung(31;4.52e-05)		189					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.565G>C	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560856	0.65538	.	.	ENSG00000113492	ENST00000231420	D	0.85861	-2.04	6.06	6.06	0.98353	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.91185	0.7223	L	0.56124	1.755	0.80722	D	1	D;D;D	0.69078	0.97;0.995;0.997	P;D;D	0.70935	0.882;0.971;0.938	D	0.90796	0.4690	10	0.72032	D	0.01	-13.1284	20.6282	0.99521	0.0:1.0:0.0:0.0	.	97;189;189	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	H	189	ENSP00000231420:D189H	ENSP00000231420:D189H	D	-	1	0	AGXT2	35071100	1.000000	0.71417	0.976000	0.42696	0.333000	0.28666	7.250000	0.78287	2.871000	0.98454	0.655000	0.94253	GAC		PASS	0.443	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		45	318	45	318	---	---	---	---
KIF2A	3796	broad.mit.edu	37	5	61681323	61681323	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:61681323C>G	ENST00000401507.3	+	20	2359	c.2048C>G	c.(2047-2049)tCt>tGt	p.S683C	KIF2A_ENST00000506857.1_Missense_Mutation_p.S637C|KIF2A_ENST00000381103.2_Missense_Mutation_p.S663C|KIF2A_ENST00000407818.3_Missense_Mutation_p.S721C|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	683					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S656C(1)|p.S721C(1)|p.S656Y(1)|p.S721Y(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAAGTGAAATCTTTCCGTGCA	0.428																																						uc003jsy.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)		0						c.(2047-2049)TCT>TGT		kinesin heavy chain member 2 isoform 1							54.0	50.0	51.0					5																	61681323		2203	4299	6502	SO:0001583	missense	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61681323C>G	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2048C>G	5.37:g.61681323C>G	ENSP00000385622:p.Ser683Cys					KIF2A_uc003jsz.3_Missense_Mutation_p.S721C|KIF2A_uc010iwp.2_Missense_Mutation_p.S664C|KIF2A_uc003jsx.3_Missense_Mutation_p.S663C|KIF2A_uc010iwq.2_Missense_Mutation_p.S486C	p.S683C	NM_004520	NP_004511	O00139	KIF2A_HUMAN		Lung(70;0.14)	20	2359	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	683			Potential.		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	c.2048C>G	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403197	0.62288	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.74842	-0.72;-0.71;-0.88;-0.71	6.03	6.03	0.97812	.	0.111999	0.64402	D	0.000006	T	0.81138	0.4760	L	0.40543	1.245	0.58432	D	0.999999	D;D;P;B	0.61697	0.965;0.99;0.946;0.016	P;P;P;B	0.61003	0.765;0.882;0.619;0.024	T	0.79909	-0.1604	10	0.51188	T	0.08	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	721;721;683;663	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	C	683;663;721;637	ENSP00000385622:S683C;ENSP00000370493:S663C;ENSP00000385000:S721C;ENSP00000423772:S637C	ENSP00000370493:S663C	S	+	2	0	KIF2A	61717080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.525000	0.67110	2.854000	0.98071	0.655000	0.94253	TCT		PASS	0.428	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		3	6	3	6	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71489755	71489755	+	Silent	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:71489755T>C	ENST00000296755.7	+	5	871	c.573T>C	c.(571-573)ccT>ccC	p.P191P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	191					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P191P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGTTCTGTCCTGAAGAAGGGG	0.423																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(571-573)CCT>CCC		microtubule-associated protein 1B							81.0	78.0	79.0					5																	71489755		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71489755T>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.573T>C	5.37:g.71489755T>C						MAP1B_uc010iyw.1_Silent_p.P208P|MAP1B_uc010iyx.1_Silent_p.P65P|MAP1B_uc010iyy.1_Silent_p.P65P	p.P191P	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	814	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	191					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.573T>C	CCDS4012.1																																																																																				PASS	0.423	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	126	4	126	---	---	---	---
AP3B1	8546	broad.mit.edu	37	5	77334898	77334899	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:77334898_77334899TA>AT	ENST00000255194.6	-	23	2952_2953	c.2777_2778TA>AT	c.(2776-2778)aTA>aAT	p.I926N	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Missense_Mutation_p.I877N	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	926					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.I926N(1)|p.I926K(1)|p.I926I(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTTTCATGCCTATAGGAAGTTT	0.267									Hermansky-Pudlak syndrome																													uc003kfj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(2776-2778)ATA>ATT|c.(2776-2778)ATA>AAA		adaptor-related protein complex 3, beta 1																																				SO:0001583	missense	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77334898T>A|g.chr5:77334899A>T	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2777_2778delinsAT	5.37:g.77334898_77334899delinsAT	ENSP00000255194:p.Ile926Asn						p.I926I|p.I926K	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	23	2903|2902	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	926					E5RJ68|O00580|Q7Z393|Q9HD66	Silent|Missense_Mutation	SNP	ENST00000255194.6	37	c.2778A>T|c.2777T>A	CCDS4041.1																																																																																				PASS	0.267	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			25|26	39	25	39	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95728914	95728914	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:95728914G>A	ENST00000311106.3	-	14	2290	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S	PCSK1_ENST00000508626.1_Missense_Mutation_p.P638S|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	685					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.P685S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACTTCTTTGGTGATTGCTTT	0.512																																						uc003kls.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2053-2055)CCA>TCA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						113.0	118.0	116.0					5																	95728914		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728914G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2053C>T	5.37:g.95728914G>A	ENSP00000308024:p.Pro685Ser					PCSK1_uc010jbi.1_Missense_Mutation_p.P375S	p.P685S	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2259	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	685					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2053C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943310	0.18281	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.68624	-0.18;-0.34	5.42	4.54	0.55810	.	0.229367	0.45361	N	0.000363	T	0.60130	0.2245	L	0.54323	1.7	0.45899	D	0.998742	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.56360	-0.7992	10	0.37606	T	0.19	-5.8555	11.3665	0.49675	0.15:0.0:0.85:0.0	.	638;685	E9PHA1;P29120	.;NEC1_HUMAN	S	685;638	ENSP00000308024:P685S;ENSP00000421600:P638S	ENSP00000308024:P685S	P	-	1	0	PCSK1	95754670	1.000000	0.71417	0.951000	0.38953	0.137000	0.21094	5.229000	0.65316	1.240000	0.43803	0.655000	0.94253	CCA		PASS	0.512	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		6	233	6	233	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127420339	127420339	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:127420339C>A	ENST00000262461.2	+	1	882	c.693C>A	c.(691-693)gcC>gcA	p.A231A	CTC-228N24.3_ENST00000501702.2_lincRNA|SLC12A2_ENST00000343225.4_Silent_p.A231A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	231					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.A231A(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGCACACAGCCGCGCAGCTGG	0.622																																						uc003kus.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(691-693)GCC>GCA		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						51.0	51.0	51.0					5																	127420339		2165	4216	6381	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127420339C>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.693C>A	5.37:g.127420339C>A						FLJ33630_uc003kun.2_5'Flank|FLJ33630_uc003kuo.2_5'Flank|FLJ33630_uc003kup.1_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.2_5'Flank|SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.A231A	p.A231A	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	1	857	+		all_cancers(142;0.0972)|Prostate(80;0.151)	231			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.693C>A	CCDS4144.1																																																																																				PASS	0.622	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		8	28	8	28	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134018131	134018131	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:134018131C>G	ENST00000398844.2	+	9	1738	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	SEC24A_ENST00000322887.4_Missense_Mutation_p.Q484E	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.Q484E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGAAGTTCAAAATGCTAC	0.308																																						uc003kzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)CAA>GAA		SEC24 related gene family, member A							110.0	102.0	105.0					5																	134018131		1806	4074	5880	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134018131C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1450C>G	5.37:g.134018131C>G	ENSP00000381823:p.Gln484Glu					SEC24A_uc011cxu.1_Missense_Mutation_p.Q248E	p.Q484E	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1738	+			484					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.1450C>G	CCDS43363.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.34|15.34	2.803492|2.803492	0.50315|0.50315	.|.	.|.	ENSG00000113615|ENSG00000113615	ENST00000513123|ENST00000398844;ENST00000322887	.|T;T	.|0.47177	.|1.12;0.85	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51381|0.51381	0.1671|0.1671	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|P;B	.|0.36144	.|0.539;0.359	.|B;B	.|0.36030	.|0.125;0.216	T|T	0.48103|0.48103	-0.9064|-0.9064	5|10	.|0.25751	.|T	.|0.34	-9.9674|-9.9674	19.8493|19.8493	0.96733|0.96733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|248;484	.|B4E205;O95486	.|.;SC24A_HUMAN	L|E	29|484	.|ENSP00000381823:Q484E;ENSP00000321749:Q484E	.|ENSP00000321749:Q484E	F|Q	+|+	3|1	2|0	SEC24A|SEC24A	134046030|134046030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.689000|7.689000	0.84165|0.84165	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	TTC|CAA		PASS	0.308	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			93	51	93	51	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139886511	139886511	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:139886511A>T	ENST00000360839.2	+	19	3654	c.3500A>T	c.(3499-3501)tAt>tTt	p.Y1167F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y1167F|ANKHD1_ENST00000297183.6_Missense_Mutation_p.Y1167F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1167						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y1167F(2)|p.Y378F(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAGGATATGTTAATATC	0.383																																						uc003lfs.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)	6						c.(3499-3501)TAT>TTT		ANKHD1-EIF4EBP3 protein							192.0	185.0	187.0					5																	139886511		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139886511A>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3500A>T	5.37:g.139886511A>T	ENSP00000354085:p.Tyr1167Phe					ANKHD1_uc003lfq.1_Missense_Mutation_p.Y1186F|ANKHD1_uc003lfr.2_Missense_Mutation_p.Y1167F|ANKHD1_uc003lft.1_Missense_Mutation_p.Y378F|ANKHD1_uc003lfu.1_Missense_Mutation_p.Y647F|ANKHD1_uc003lfv.1_Missense_Mutation_p.Y244F|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank	p.Y1167F	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	3624	+			1167					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3500A>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.078368|5.078368	0.94000|0.94000	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000246149|ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	.|T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1	6.13|6.13	6.13|6.13	0.99165|0.99165	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67664|0.67664	0.2917|0.2917	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;P;P;D;D	.|0.76494	.|0.356;0.863;0.587;0.999;0.999	.|P;P;P;D;D	.|0.79108	.|0.549;0.869;0.672;0.992;0.992	T|T	0.73023|0.73023	-0.4113|-0.4113	5|10	.|0.87932	.|D	.|0	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|378;1167;1186;1167;1167	.|E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.|.;.;.;.;ANKH1_HUMAN	L|F	393|1167;1200;1167;1167;701;378;1186;320;1167	.|ENSP00000354085:Y1167F;ENSP00000297183:Y1167F;ENSP00000394489:Y1186F;ENSP00000405602:Y320F;ENSP00000432016:Y1167F	.|ENSP00000432016:Y1167F	M|Y	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139866695|139866695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.336000|9.336000	0.96533|0.96533	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	ATG|TAT		PASS	0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		133	81	133	81	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140221129	140221129	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140221129C>T	ENST00000531613.1	+	1	223	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L75L|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L75L(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGACCTTCTGGAGGTAAG	0.647																																						uc003lhs.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(223-225)CTG>TTG		protocadherin alpha 8 isoform 1 precursor							51.0	75.0	67.0					5																	140221129		2199	4289	6488	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221129C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.223C>T	5.37:g.140221129C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L75L	p.L75L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	223	+			75			Cadherin 1.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.223C>T	CCDS54919.1																																																																																				PASS	0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		86	299	86	299	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554031	140554031	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140554031C>A	ENST00000231137.3	+	1	1789	c.1615C>A	c.(1615-1617)Ccc>Acc	p.P539T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	539	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.P539T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGGCTCCCCCGCGCTGAG	0.692																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1615-1617)CCC>ACC		protocadherin beta 7 precursor							47.0	52.0	50.0					5																	140554031		2201	4298	6499	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554031C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1615C>A	5.37:g.140554031C>A	ENSP00000231137:p.Pro539Thr						p.P539T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1789	+			539			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1615C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.861356	0.51482	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01152	5.26	4.09	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08891	0.0220	M	0.92784	3.345	0.46564	D	0.999103	D	0.89917	1.0	D	0.97110	1.0	T	0.00684	-1.1611	9	0.87932	D	0	.	11.486	0.50354	0.0:0.9091:0.0:0.0909	.	539	Q9Y5E2	PCDB7_HUMAN	T	539;322	ENSP00000231137:P539T	ENSP00000231137:P539T	P	+	1	0	PCDHB7	140534215	0.538000	0.26394	0.967000	0.41034	0.418000	0.31294	5.749000	0.68704	0.833000	0.34828	0.449000	0.29647	CCC		PASS	0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		59	36	59	36	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554309	140554309	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140554309C>T	ENST00000231137.3	+	1	2067	c.1893C>T	c.(1891-1893)agC>agT	p.S631S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	631	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.S631S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGCTGAGCGAGCGCGACG	0.687																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1891-1893)AGC>AGT		protocadherin beta 7 precursor							40.0	64.0	56.0					5																	140554309		2181	4278	6459	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554309C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1893C>T	5.37:g.140554309C>T							p.S631S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2067	+			631			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1893C>T	CCDS4249.1																																																																																				PASS	0.687	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		39	292	39	292	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559155	140559155	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140559155C>G	ENST00000239444.2	+	1	1785	c.1540C>G	c.(1540-1542)Ctg>Gtg	p.L514V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	514	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.L514V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.687																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1540-1542)CTG>GTG		protocadherin beta 8 precursor							90.0	144.0	126.0					5																	140559155		2202	4296	6498	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559155C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1540C>G	5.37:g.140559155C>G	ENSP00000239444:p.Leu514Val					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.L514V	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1726	+			514			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1540C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625987	0.28889	.	.	ENSG00000120322	ENST00000239444	T	0.61158	0.13	4.22	3.35	0.38373	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.56262	0.1973	N	0.12527	0.23	0.29253	N	0.871835	D	0.69078	0.997	D	0.79108	0.992	T	0.52019	-0.8631	9	0.72032	D	0.01	.	8.227	0.31575	0.0:0.6969:0.2098:0.0933	.	514	Q9UN66	PCDB8_HUMAN	V	514	ENSP00000239444:L514V	ENSP00000239444:L514V	L	+	1	2	PCDHB8	140539339	0.001000	0.12720	0.967000	0.41034	0.224000	0.24922	-0.010000	0.12743	0.774000	0.33427	0.298000	0.19748	CTG		PASS	0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		70	400	70	400	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559354	140559354	+	Missense_Mutation	SNP	C	C	T	rs374505292		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140559354C>T	ENST00000239444.2	+	1	1984	c.1739C>T	c.(1738-1740)gCg>gTg	p.A580V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	580	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.A580V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCCCGGGCGGCCGAGCCG	0.706																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1738-1740)GCG>GTG		protocadherin beta 8 precursor							7.0	15.0	12.0					5																	140559354		1959	3957	5916	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559354C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1739C>T	5.37:g.140559354C>T	ENSP00000239444:p.Ala580Val					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.A580V	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1925	+			580			Cadherin 6.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1739C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939833	0.34189	.	.	ENSG00000120322	ENST00000239444	T	0.68181	-0.31	4.22	2.28	0.28536	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.53867	0.1823	L	0.33245	0.995	0.09310	N	0.999997	B	0.13145	0.007	B	0.26770	0.073	T	0.50092	-0.8868	9	0.56958	D	0.05	.	6.0527	0.19794	0.0:0.5597:0.2578:0.1825	.	580	Q9UN66	PCDB8_HUMAN	V	580	ENSP00000239444:A580V	ENSP00000239444:A580V	A	+	2	0	PCDHB8	140539538	0.000000	0.05858	0.996000	0.52242	0.847000	0.48162	0.279000	0.18771	0.776000	0.33473	-0.708000	0.03648	GCG		PASS	0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		25	110	25	110	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865571	140865571	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:140865571C>T	ENST00000306593.1	+	1	831	c.831C>T	c.(829-831)gtC>gtT	p.V277V	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	277	Cadherin 3. {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.V277V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTAACGTCACCTTTTATT	0.527																																						uc003lky.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(829-831)GTC>GTT		protocadherin gamma subfamily C, 4 isoform 1							74.0	83.0	80.0					5																	140865571		2203	4300	6503	SO:0001819	synonymous_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140865571C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.831C>T	5.37:g.140865571C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.V277V	p.V277V	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	831	+			277			Cadherin 3.|Extracellular (Potential).		Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.831C>T	CCDS4262.1																																																																																				PASS	0.527	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		34	138	34	138	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148712284	148712284	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:148712284G>T	ENST00000296721.4	+	17	2100	c.2002G>T	c.(2002-2004)Gcc>Tcc	p.A668S	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A668S	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	668						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A668S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAAGAAGCCGTGGCCAC	0.547																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(2002-2004)GCC>TCC		actin filament associated protein 1-like 1							36.0	41.0	39.0					5																	148712284		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148712284G>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2002G>T	5.37:g.148712284G>T	ENSP00000296721:p.Ala668Ser					AFAP1L1_uc010jgy.2_Missense_Mutation_p.A668S|AFAP1L1_uc003lqi.1_Missense_Mutation_p.A283S	p.A668S	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2133	+			668			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.2002G>T	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086237	0.36855	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.14144	2.55;2.53	5.53	2.4	0.29515	.	0.516761	0.19933	N	0.102811	T	0.07863	0.0197	N	0.22421	0.69	0.22489	N	0.999052	B;B	0.34015	0.336;0.435	B;B	0.33454	0.164;0.057	T	0.21280	-1.0250	10	0.48119	T	0.1	-13.0464	4.6143	0.12418	0.2879:0.2973:0.4148:0.0	.	668;668	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	S	668	ENSP00000296721:A668S;ENSP00000424427:A668S	ENSP00000296721:A668S	A	+	1	0	AFAP1L1	148692477	0.994000	0.37717	0.973000	0.42090	0.807000	0.45602	0.989000	0.29629	1.346000	0.45694	0.561000	0.74099	GCC		PASS	0.547	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		6	45	6	45	---	---	---	---
RBM22	55696	broad.mit.edu	37	5	150071393	150071393	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:150071393G>A	ENST00000199814.4	-	11	1304	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RBM22_ENST00000540000.1_Missense_Mutation_p.R346W|RBM22_ENST00000447771.2_Missense_Mutation_p.R346W	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	395	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R395W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGAGCCCGCATGAAAGGA	0.537																																						uc003lst.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1183-1185)CGG>TGG		RNA binding motif protein 22							117.0	112.0	114.0					5																	150071393		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150071393G>A	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1183C>T	5.37:g.150071393G>A	ENSP00000199814:p.Arg395Trp						p.R395W	NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1305	-		Medulloblastoma(196;0.167)	395			Pro-rich.		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.1183C>T	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883020	0.51908	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	0.964	0.19655	.	0.047188	0.85682	D	0.000000	T	0.39253	0.1071	L	0.40543	1.245	0.54753	D	0.999981	D	0.58970	0.984	B	0.41299	0.353	T	0.42015	-0.9476	9	0.66056	D	0.02	-22.006	9.5132	0.39089	0.0:0.0718:0.4347:0.4935	.	395	Q9NW64	RBM22_HUMAN	W	395;346;346	.	ENSP00000199814:R395W	R	-	1	2	RBM22	150051586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.610000	0.36869	0.996000	0.38943	-0.264000	0.10439	CGG		PASS	0.537	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		4	147	4	147	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150488040	150488040	+	Missense_Mutation	SNP	C	C	T	rs201027048		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:150488040C>T	ENST00000354546.5	-	23	1983	c.1756G>A	c.(1756-1758)Gtc>Atc	p.V586I	ANXA6_ENST00000356496.5_Missense_Mutation_p.V580I|ANXA6_ENST00000377751.5_Missense_Mutation_p.V243I|ANXA6_ENST00000523714.1_Missense_Mutation_p.V554I|ANXA6_ENST00000521512.1_Missense_Mutation_p.V373I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	586					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.V632I(1)|p.V586I(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCCCTGACATCCCCAGAC	0.527																																						uc003ltl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1756-1758)GTC>ATC		annexin VI isoform 1							212.0	214.0	213.0					5																	150488040		2046	4198	6244	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488040C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1756G>A	5.37:g.150488040C>T	ENSP00000346550:p.Val586Ile					ANXA6_uc011dcp.1_Missense_Mutation_p.V554I|ANXA6_uc003ltm.1_Missense_Mutation_p.V580I|ANXA6_uc003ltn.1_Missense_Mutation_p.V373I|ANXA6_uc003lto.1_Missense_Mutation_p.V173I	p.V586I	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1908	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	586			Annexin 7.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1756G>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986373	0.53934	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	5.57	5.57	0.84162	Annexin repeat, conserved site (1);	0.068372	0.64402	D	0.000019	T	0.07369	0.0186	L	0.31294	0.92	0.58432	D	0.99999	P;P;P	0.52692	0.955;0.641;0.735	P;B;B	0.57620	0.824;0.264;0.264	T	0.53315	-0.8456	10	0.18710	T	0.47	.	13.3156	0.60405	0.1582:0.8418:0.0:0.0	.	373;580;586	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	586;554;243;580;373;460	ENSP00000346550:V586I;ENSP00000430517:V554I;ENSP00000366980:V243I;ENSP00000348889:V580I;ENSP00000430420:V373I	ENSP00000346550:V586I	V	-	1	0	ANXA6	150468233	0.990000	0.36364	0.999000	0.59377	0.884000	0.51177	2.809000	0.47971	2.630000	0.89119	0.655000	0.94253	GTC		PASS	0.527	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		11	266	11	266	---	---	---	---
MED7	9443	broad.mit.edu	37	5	156566273	156566273	+	Missense_Mutation	SNP	C	C	G	rs372006031		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:156566273C>G	ENST00000286317.5	-	2	551	c.170G>C	c.(169-171)cGc>cCc	p.R57P	MED7_ENST00000420343.1_Missense_Mutation_p.R57P	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	57					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.R57P(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	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)			TTCCAAAGGGCGGATGATAAG	0.398																																						uc010jik.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)CGC>CCC		mediator complex subunit 7							76.0	73.0	74.0					5																	156566273		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566273C>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.170G>C	5.37:g.156566273C>G	ENSP00000286317:p.Arg57Pro					MED7_uc003lwm.3_Missense_Mutation_p.R57P	p.R57P	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	562	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	57						Missense_Mutation	SNP	ENST00000286317.5	37	c.170G>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008970	0.54361	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	N	0.25789	0.76	0.80722	D	1	B	0.19073	0.033	B	0.34991	0.193	T	0.41305	-0.9516	9	0.08381	T	0.77	-10.6846	14.7798	0.69756	0.0:0.9309:0.0:0.0691	.	57	O43513	MED7_HUMAN	P	57	.	ENSP00000286317:R57P	R	-	2	0	MED7	156498851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	1.410000	0.46936	0.655000	0.94253	CGC		PASS	0.398	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		26	131	26	131	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580227	161580227	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:161580227C>T	ENST00000361925.4	+	9	1477	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	GABRG2_ENST00000414552.2_Silent_p.C467C|GABRG2_ENST00000393933.4_Silent_p.C324C|GABRG2_ENST00000356592.3_Silent_p.C427C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	419					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.C427C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	GTTTTTTCTGCTGTTTTGAAG	0.468																																						uc003lyz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1255-1257)TGC>TGT		gamma-aminobutyric acid A receptor, gamma 2							213.0	204.0	207.0					5																	161580227		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580227C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1257C>T	5.37:g.161580227C>T						GABRG2_uc010jjc.2_Silent_p.C467C|GABRG2_uc003lyy.3_Silent_p.C427C|GABRG2_uc011dej.1_Silent_p.C324C	p.C419C	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1615	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	419			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1257C>T	CCDS4358.1																																																																																				PASS	0.468	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			129	76	129	76	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167943953	167943953	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:167943953C>G	ENST00000231572.3	+	13	1677	c.1623C>G	c.(1621-1623)atC>atG	p.I541M	RARS_ENST00000538719.1_Missense_Mutation_p.I335M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	541					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I541M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TCACTAGAATCAGGTAATTGT	0.338																																						uc003lzx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1621-1623)ATC>ATG		arginyl-tRNA synthetase							161.0	162.0	162.0					5																	167943953		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167943953C>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1623C>G	5.37:g.167943953C>G	ENSP00000231572:p.Ile541Met					RARS_uc011deo.1_Missense_Mutation_p.I335M	p.I541M	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	13	1664	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	541					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.1623C>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	c	16.17	3.046747	0.55110	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.79352	-1.26;-1.26	5.97	4.01	0.46588	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.79123	2.44	0.58432	D	0.999999	P	0.50272	0.933	P	0.62014	0.897	D	0.89133	0.3511	10	0.87932	D	0	-18.2023	15.7192	0.77694	0.3437:0.6563:0.0:0.0	.	541	P54136	SYRC_HUMAN	M	541;335	ENSP00000231572:I541M;ENSP00000439108:I335M	ENSP00000231572:I541M	I	+	3	3	RARS	167876531	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.654000	0.54453	1.519000	0.48950	0.651000	0.88453	ATC		PASS	0.338	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		58	277	58	277	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171766306	171766306	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:171766306C>A	ENST00000311601.5	-	13	1973	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	601					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.K601N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCCAAGACCTTGTGGCCAC	0.567																																						uc003mbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1801-1803)AAG>AAT		SH3 and PX domains 2B							54.0	63.0	60.0					5																	171766306		2200	4300	6500	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766306C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1803G>T	5.37:g.171766306C>A	ENSP00000309714:p.Lys601Asn						p.K601N	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1974	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	601					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.1803G>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929553	0.52759	.	.	ENSG00000174705	ENST00000311601	T	0.65549	-0.16	5.74	1.05	0.20165	.	0.554792	0.19067	N	0.123584	T	0.45558	0.1348	L	0.34521	1.04	0.43803	D	0.996353	B	0.26635	0.155	B	0.24701	0.055	T	0.17198	-1.0377	9	.	.	.	-23.5043	9.3369	0.38056	0.0:0.5962:0.0:0.4038	.	601	A1X283	SPD2B_HUMAN	N	601	ENSP00000309714:K601N	.	K	-	3	2	SH3PXD2B	171698911	0.986000	0.35501	0.993000	0.49108	0.848000	0.48234	0.335000	0.19806	0.247000	0.21414	0.561000	0.74099	AAG		PASS	0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		77	51	77	51	---	---	---	---
STC2	8614	broad.mit.edu	37	5	172755103	172755103	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:172755103C>G	ENST00000265087.4	-	1	1403	c.94G>C	c.(94-96)Gag>Cag	p.E32Q		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	32					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.E32Q(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)			TGGGGACCCTCGGGTGGGTTG	0.647																																						uc003mco.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(94-96)GAG>CAG		stanniocalcin 2 precursor							98.0	103.0	101.0					5																	172755103		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172755103C>G	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.94G>C	5.37:g.172755103C>G	ENSP00000265087:p.Glu32Gln					STC2_uc003mcn.1_5'Flank	p.E32Q	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1404	-	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)	32						Missense_Mutation	SNP	ENST00000265087.4	37	c.94G>C	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897967	0.52227	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.17	4.31	0.51392	.	0.098369	0.64402	D	0.000002	T	0.68933	0.3055	M	0.70275	2.135	0.48632	D	0.999685	B	0.14805	0.011	B	0.28849	0.095	T	0.68454	-0.5404	9	0.49607	T	0.09	-24.8228	15.63	0.76899	0.0:0.8622:0.1378:0.0	.	32	O76061	STC2_HUMAN	Q	32	.	ENSP00000265087:E32Q	E	-	1	0	STC2	172687709	1.000000	0.71417	0.996000	0.52242	0.533000	0.34776	5.044000	0.64214	1.420000	0.47138	-0.150000	0.13652	GAG		PASS	0.647	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		29	124	29	124	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175782611	175782611	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:175782611G>A	ENST00000298569.4	-	4	703	c.170C>T	c.(169-171)cCa>cTa	p.P57L	KIAA1191_ENST00000510164.1_Missense_Mutation_p.P57L|KIAA1191_ENST00000393725.2_Missense_Mutation_p.P38L|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000533553.1_Intron	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	57						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)	p.P57L(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TGGAATCACTGGCTTCCAAGG	0.577																																						uc003mdw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)CCA>CTA		hypothetical protein LOC57179 isoform a							127.0	104.0	112.0					5																	175782611		2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175782611G>A	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.170C>T	5.37:g.175782611G>A	ENSP00000298569:p.Pro57Leu					KIAA1191_uc003mdx.2_Missense_Mutation_p.P38L|KIAA1191_uc003mdy.2_Missense_Mutation_p.P57L|KIAA1191_uc003mea.2_Intron|KIAA1191_uc003mdz.2_Intron	p.P57L	NM_020444	NP_065177	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	4	542	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	57					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.170C>T	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282536	0.80692	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.74881	2.28	0.80722	D	1	P	0.35628	0.513	B	0.37091	0.241	T	0.72734	-0.4204	9	0.87932	D	0	-11.5816	18.8135	0.92068	0.0:0.0:1.0:0.0	.	57	Q96A73	K1191_HUMAN	L	57;38;57;38;38;38	.	ENSP00000298569:P57L	P	-	2	0	KIAA1191	175715217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.315000	0.78998	2.516000	0.84829	0.591000	0.81541	CCA		PASS	0.577	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		44	134	44	134	---	---	---	---
RMND5B	64777	broad.mit.edu	37	5	177573150	177573150	+	Silent	SNP	C	C	A	rs199566204	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr5:177573150C>A	ENST00000515098.1	+	9	1081	c.730C>A	c.(730-732)Cgg>Agg	p.R244R	RMND5B_ENST00000542098.1_Silent_p.R231R|RMND5B_ENST00000313386.4_Silent_p.R244R			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	244								p.R244R(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGTGTACCTGCGGCTGGGCTT	0.642											OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mim.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(730-732)CGG>AGG		required for meiotic nuclear division 5 homolog							52.0	47.0	49.0					5																	177573150		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177573150C>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.730C>A	5.37:g.177573150C>A			OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1939	RMND5B_uc003min.2_Silent_p.R244R|RMND5B_uc003mio.2_Silent_p.R231R|RMND5B_uc003mip.2_Silent_p.R244R|RMND5B_uc011dgf.1_Silent_p.R285R|RMND5B_uc003miq.2_Silent_p.R184R	p.R244R	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	910	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	244					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.730C>A	CCDS4431.1																																																																																				PASS	0.642	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		8	17	8	17	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	401482	401482	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:401482G>A	ENST00000380956.4	+	7	930	c.804G>A	c.(802-804)acG>acA	p.T268T		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	268					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T268T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGCTGACCACGTCCAGCCCCG	0.612			T	IGH@	MM																																	uc003msz.3				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(802-804)ACG>ACA		interferon regulatory factor 4							60.0	50.0	53.0					6																	401482		2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:401482G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.804G>A	6.37:g.401482G>A						IRF4_uc010jne.1_Silent_p.T268T|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.T267T|IRF4_uc003mtc.1_Silent_p.T98T	p.T268T	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	7	917	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	268					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.804G>A	CCDS4469.1																																																																																				PASS	0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			52	30	52	30	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13228281	13228281	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:13228281G>T	ENST00000379350.1	+	8	1349	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	PHACTR1_ENST00000332995.7_Missense_Mutation_p.S407I|PHACTR1_ENST00000457702.2_Missense_Mutation_p.S262I|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	407					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.S407I(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)			GACGACGACAGCTCATTATAC	0.493																																						uc010jpc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)AGC>ATC		phosphatase and actin regulator 1							80.0	86.0	84.0					6																	13228281		2049	4188	6237	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13228281G>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.1220G>T	6.37:g.13228281G>T	ENSP00000368655:p.Ser407Ile					PHACTR1_uc011dir.1_Missense_Mutation_p.S476I|PHACTR1_uc003nag.1_Missense_Mutation_p.S407I|PHACTR1_uc003nah.1_Missense_Mutation_p.S407I	p.S407I	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1552	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	407					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1220G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.27|13.27	2.187376|2.187376	0.38609|0.38609	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.32988	.|1.44;1.43;1.43	5.76|5.76	3.94|3.94	0.45596|0.45596	.|.	.|0.431417	.|0.30285	.|N	.|0.009970	T|T	0.13586|0.13586	0.0329|0.0329	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.43094	.|0.041;0.697;0.799	.|B;B;P	.|0.44990	.|0.031;0.205;0.466	T|T	0.03051|0.03051	-1.1078|-1.1078	5|10	.|0.87932	.|D	.|0	-6.7629|-6.7629	9.8597|9.8597	0.41107|0.41107	0.0736:0.2766:0.6498:0.0|0.0736:0.2766:0.6498:0.0	.|.	.|476;407;407	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	S|I	242|407;407;476;262	.|ENSP00000368655:S407I;ENSP00000329880:S407I;ENSP00000397669:S262I	.|ENSP00000329880:S407I	A|S	+|+	1|2	0|0	PHACTR1|PHACTR1	13336260|13336260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	2.847000|2.847000	0.48270|0.48270	0.846000|0.846000	0.35142|0.35142	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.493	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		32	31	32	31	---	---	---	---
HIST1H2AM	8336	broad.mit.edu	37	6	27860774	27860774	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:27860774G>C	ENST00000359611.2	-	1	189	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	52						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.L52V(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						ACCGCCGCCAGGTAAACCGGC	0.652																																						uc003nkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(154-156)CTG>GTG		histone cluster 1, H2am							49.0	57.0	55.0					6																	27860774		2202	4299	6501	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860774G>C	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.154C>G	6.37:g.27860774G>C	ENSP00000352627:p.Leu52Val					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.L52V	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	190	-			52					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.154C>G	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575907	0.28092	.	.	ENSG00000233224	ENST00000359611	T	0.74737	-0.87	3.92	3.05	0.35203	.	0.000000	0.25338	U	0.031399	D	0.82889	0.5135	H	0.95328	3.655	0.26133	N	0.980382	.	.	.	.	.	.	T	0.77040	-0.2735	8	0.87932	D	0	.	11.2066	0.48773	0.0936:0.0:0.9064:0.0	.	.	.	.	V	52	ENSP00000352627:L52V	ENSP00000352627:L52V	L	-	1	2	HIST1H2AM	27968753	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	1.050000	0.30404	1.235000	0.43724	-0.258000	0.10820	CTG		PASS	0.652	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		26	83	26	83	---	---	---	---
WDR46	9277	broad.mit.edu	37	6	33254660	33254660	+	Silent	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:33254660A>G	ENST00000374617.4	-	10	1383	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	343							poly(A) RNA binding (GO:0044822)	p.L343L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GGACTCCATAAAGACACAGTA	0.483																																						uc003ods.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1027-1029)TTA>CTA		WD repeat domain 46 isoform 1							122.0	116.0	118.0					6																	33254660		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33254660A>G	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1027T>C	6.37:g.33254660A>G						WDR46_uc011dra.1_Silent_p.L289L|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	p.L343L	NM_005452	NP_005443	O15213	WDR46_HUMAN			10	1071	-			343			WD 4.		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.1027T>C	CCDS4772.1																																																																																				PASS	0.483	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		61	144	61	144	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87969026	87969026	+	Silent	SNP	A	A	G	rs201065528		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:87969026A>G	ENST00000369577.3	+	8	5722	c.5679A>G	c.(5677-5679)caA>caG	p.Q1893Q	ZNF292_ENST00000339907.4_Silent_p.Q1888Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1893						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q1748Q(1)|p.Q1893Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACATTCAATTTAATGACA	0.358													A|||	1	0.000199681	0.0	0.0	5008	,	,		18927	0.001		0.0	False		,,,				2504	0.0					uc003plm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(5677-5679)CAA>CAG		zinc finger protein 292							46.0	47.0	47.0					6																	87969026		1899	4120	6019	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969026A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5679A>G	6.37:g.87969026A>G							p.Q1893Q	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5720	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1893					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.5679A>G	CCDS47457.1																																																																																				PASS	0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	77	5	77	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136990473	136990473	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:136990473G>C	ENST00000359015.4	-	8	1674	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.L438L(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTGCCAGGAGGAGGACCGCAT	0.388																																						uc003qhc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1312-1314)CTC>CTG		mitogen-activated protein kinase kinase kinase							144.0	151.0	149.0					6																	136990473		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990473G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1314C>G	6.37:g.136990473G>C						MAP3K5_uc011edk.1_Silent_p.L283L|MAP3K5_uc010kgw.1_Silent_p.L438L	p.L438L	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1675	-	Colorectal(23;0.24)		438					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1314C>G	CCDS5179.1																																																																																				PASS	0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			32	117	32	117	---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149700431	149700431	+	Silent	SNP	G	G	A	rs150699204	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:149700431G>A	ENST00000367456.1	+	4	1957	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	TAB2_ENST00000392282.1_Silent_p.T460T|TAB2_ENST00000538427.1_Silent_p.T460T|TAB2_ENST00000286332.5_Silent_p.T460T|TAB2_ENST00000536230.1_Silent_p.T428T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	460					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.T460T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AGCCCAATACGAAATACACTT	0.463																																						uc003qmj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1378-1380)ACG>ACA		mitogen-activated protein kinase kinase kinase 7		G		0,4406		0,0,2203	107.0	103.0	104.0		1380	0.5	1.0	6	dbSNP_134	104	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous	TAB2	NM_015093.4		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		460/694	149700431	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700431G>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1380G>A	6.37:g.149700431G>A						TAB2_uc011eec.1_Silent_p.T428T|TAB2_uc010kia.1_Silent_p.T460T|TAB2_uc010kib.1_Silent_p.T460T|TAB2_uc003qmk.3_RNA	p.T460T	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1558	+			460					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.1380G>A	CCDS5214.1																																																																																				PASS	0.463	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			33	93	33	93	---	---	---	---
ERMARD	55780	broad.mit.edu	37	6	170169794	170169794	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr6:170169794G>A	ENST00000366773.3	+	12	1251	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	ERMARD_ENST00000366772.2_Silent_p.L406L|ERMARD_ENST00000392095.4_Silent_p.L280L|ERMARD_ENST00000588451.1_Silent_p.L270L|RP1-266L20.9_ENST00000586101.1_RNA|ERMARD_ENST00000418781.3_Silent_p.L406L	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	406					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L406L(1)									ATGACTGTCTGCTATCAGTTT	0.308																																						uc003qxg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1216-1218)CTG>CTA		hypothetical protein LOC55780							66.0	61.0	62.0					6																	170169794		2203	4300	6503	SO:0001819	synonymous_variant	55780					integral to membrane		g.chr6:170169794G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1218G>A	6.37:g.170169794G>A						C6orf70_uc011ehb.1_Silent_p.L280L|C6orf70_uc003qxh.1_Silent_p.L406L|C6orf70_uc010kky.1_Silent_p.L280L|C6orf70_uc003qxi.1_Silent_p.L54L	p.L406L	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	12	1251	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	406			Helical; (Potential).		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.1218G>A	CCDS34576.1																																																																																				PASS	0.308	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		9	52	9	52	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11075331	11075331	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:11075331A>G	ENST00000403050.3	+	8	1972	c.1520A>G	c.(1519-1521)aAg>aGg	p.K507R	PHF14_ENST00000445996.2_Missense_Mutation_p.K222R	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	507					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K507R(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAAGTGGAAGAGAAAAAAC	0.368																																						uc003sry.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(1519-1521)AAG>AGG		PHD finger protein 14 isoform 2							169.0	168.0	169.0					7																	11075331		1855	4104	5959	SO:0001583	missense	9678						zinc ion binding	g.chr7:11075331A>G	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1520A>G	7.37:g.11075331A>G	ENSP00000385795:p.Lys507Arg					PHF14_uc011jxi.1_Missense_Mutation_p.K222R|PHF14_uc003srz.2_Missense_Mutation_p.K507R|PHF14_uc011jxj.1_Missense_Mutation_p.K222R	p.K507R	NM_014660	NP_055475	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	1955	+			507					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1520A>G	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369531	0.42003	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.70516	-0.09;-0.49	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	N	0.19112	0.55	0.80722	D	1	D;P;D;B	0.69078	0.974;0.956;0.997;0.158	D;D;D;B	0.73380	0.969;0.931;0.98;0.045	T	0.64997	-0.6275	10	0.02654	T	1	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	222;222;507;507	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	R	507;222	ENSP00000385795:K507R;ENSP00000403907:K222R	ENSP00000385795:K507R	K	+	2	0	PHF14	11041856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.317000	0.96327	2.288000	0.76882	0.528000	0.53228	AAG		PASS	0.368	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		51	179	51	179	---	---	---	---
NME8	51314	broad.mit.edu	37	7	37924760	37924760	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:37924760G>T	ENST00000199447.4	+	14	1525	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	NME8_ENST00000440017.1_Missense_Mutation_p.A385S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	385	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.A385S(1)									TCCATCTCTAGCCCTTGTTTT	0.358																																						uc003tfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1153-1155)GCC>TCC		thioredoxin domain containing 3							105.0	91.0	96.0					7																	37924760		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924760G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1153G>T	7.37:g.37924760G>T	ENSP00000199447:p.Ala385Ser						p.A385S	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			14	1525	+			385			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1153G>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965946	0.53507	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.58652	0.32;0.32	3.69	1.8	0.24995	.	1.171620	0.06267	N	0.695036	T	0.79924	0.4530	M	0.92459	3.31	0.20307	N	0.999915	D	0.89917	1.0	D	0.80764	0.994	T	0.55995	-0.8052	10	0.62326	D	0.03	0.4084	7.0228	0.24924	0.1014:0.1751:0.7235:0.0	.	385	Q8N427	TXND3_HUMAN	S	385	ENSP00000199447:A385S;ENSP00000397063:A385S	ENSP00000199447:A385S	A	+	1	0	TXNDC3	37891285	0.812000	0.29077	0.415000	0.26534	0.908000	0.53690	1.469000	0.35343	0.493000	0.27837	0.563000	0.77884	GCC		PASS	0.358	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		17	49	17	49	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44612228	44612228	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:44612228C>T	ENST00000258772.5	-	4	605	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	DDX56_ENST00000431640.1_Missense_Mutation_p.E167K|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	167	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.E167K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGGTCAGCTTCGTCCACCACC	0.498																																						uc003tlg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(499-501)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							140.0	140.0	140.0					7																	44612228		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612228C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.499G>A	7.37:g.44612228C>T	ENSP00000258772:p.Glu167Lys					DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.E103K|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.E167K|DDX56_uc010kyh.1_RNA	p.E167K	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			4	1142	-			167			DEAD box.|Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.499G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	35	5.553651	0.96501	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.62498	0.02;0.02	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92875	0.6318	10	0.87932	D	0	-27.1089	17.2396	0.87009	0.0:1.0:0.0:0.0	.	167;167	C9JV95;Q9NY93	.;DDX56_HUMAN	K	167	ENSP00000258772:E167K;ENSP00000393488:E167K	ENSP00000258772:E167K	E	-	1	0	DDX56	44578753	1.000000	0.71417	0.970000	0.41538	0.868000	0.49771	6.407000	0.73280	2.746000	0.94184	0.655000	0.94253	GAA		PASS	0.498	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		61	196	61	196	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44739744	44739744	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:44739744T>G	ENST00000222673.5	+	19	2477	c.2435T>G	c.(2434-2436)cTt>cGt	p.L812R	OGDH_ENST00000449767.1_Missense_Mutation_p.L808R|OGDH_ENST00000444676.1_Missense_Mutation_p.L827R|OGDH_ENST00000439616.2_Missense_Mutation_p.L662R|OGDH_ENST00000543843.1_Missense_Mutation_p.L763R|OGDH_ENST00000447398.1_Missense_Mutation_p.L823R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	812					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.L812R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTGCAGGACCTTAAAGAAGCC	0.522																																						uc003tln.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2434-2436)CTT>CGT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						154.0	125.0	134.0					7																	44739744		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739744T>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2435T>G	7.37:g.44739744T>G	ENSP00000222673:p.Leu812Arg					OGDH_uc011kbx.1_Missense_Mutation_p.L808R|OGDH_uc011kby.1_Missense_Mutation_p.L662R|OGDH_uc003tlp.2_Missense_Mutation_p.L823R|OGDH_uc011kbz.1_Missense_Mutation_p.L607R	p.L812R	NM_002541	NP_002532	Q02218	ODO1_HUMAN			19	2544	+			812					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2435T>G	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869423	0.32977	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.05649	3.42;3.41;3.42;3.42;3.41;3.42	5.62	5.62	0.85841	Transketolase-like, pyrimidine-binding domain (2);	0.180777	0.48767	D	0.000178	T	0.04227	0.0117	N	0.02721	-0.515	0.43683	D	0.996123	B;P;B;B;B	0.34909	0.336;0.475;0.087;0.013;0.087	B;B;B;B;B	0.43889	0.255;0.435;0.128;0.07;0.255	T	0.59695	-0.7406	10	0.19147	T	0.46	-22.3479	9.9502	0.41634	0.0:0.0765:0.0:0.9235	.	607;662;808;823;812	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	R	662;808;823;827;812;763	ENSP00000398576:L662R;ENSP00000392878:L808R;ENSP00000388183:L823R;ENSP00000414662:L827R;ENSP00000222673:L812R;ENSP00000443821:L763R	ENSP00000222673:L812R	L	+	2	0	OGDH	44706269	0.913000	0.31002	0.890000	0.34922	0.586000	0.36452	6.479000	0.73600	2.144000	0.66660	0.533000	0.62120	CTT		PASS	0.522	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			53	192	53	192	---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44874124	44874124	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:44874124C>T	ENST00000308153.4	-	5	454	c.363G>A	c.(361-363)aaG>aaA	p.K121K	H2AFV_ENST00000350771.3_Silent_p.K95K|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000349299.3_Silent_p.K83K|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000437072.1_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	121						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K121K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GCTGTCCCTTCTTTCCAATCA	0.373																																						uc003tma.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)AAG>AAA		H2A histone family, member V isoform 1							92.0	80.0	84.0					7																	44874124		2203	4300	6503	SO:0001819	synonymous_variant	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44874124C>T	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.363G>A	7.37:g.44874124C>T						H2AFV_uc003tlz.2_Intron|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Silent_p.K83K|H2AFV_uc003tmc.2_3'UTR|H2AFV_uc003tmd.2_Silent_p.K95K	p.K121K	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN			5	518	-			121					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Silent	SNP	ENST00000308153.4	37	c.363G>A	CCDS5496.1																																																																																				PASS	0.373	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		18	67	18	67	---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48056919	48056919	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:48056919C>G	ENST00000297325.4	-	3	387	c.228G>C	c.(226-228)caG>caC	p.Q76H	SUN3_ENST00000395572.2_Missense_Mutation_p.Q76H|SUN3_ENST00000453192.2_Missense_Mutation_p.Q64H|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	76						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.Q76H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGGATTTCTGAGGAACAT	0.289																																						uc003tof.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)CAG>CAC		Sad1 and UNC84 domain containing 1							63.0	63.0	63.0					7																	48056919		2198	4290	6488	SO:0001583	missense	256979					integral to membrane		g.chr7:48056919C>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.228G>C	7.37:g.48056919C>G	ENSP00000297325:p.Gln76His					SUN3_uc003tog.2_Missense_Mutation_p.Q76H|SUN3_uc011kcf.1_Missense_Mutation_p.Q64H	p.Q76H	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			4	325	-			76					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.228G>C	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	7.519	0.656297	0.14580	.	.	ENSG00000164744	ENST00000297325;ENST00000395572;ENST00000453192	T;T;T	0.26373	1.74;1.74;2.35	4.73	-4.54	0.03452	.	0.634365	0.14662	N	0.305926	T	0.15176	0.0366	L	0.34521	1.04	0.21782	N	0.999548	P;P	0.50617	0.937;0.937	P;P	0.46026	0.501;0.501	T	0.11616	-1.0580	9	.	.	.	-7.0293	2.6774	0.05084	0.1279:0.2199:0.1265:0.5257	.	64;76	E7EWC8;Q8TAQ9	.;SUN3_HUMAN	H	76;76;64	ENSP00000297325:Q76H;ENSP00000378939:Q76H;ENSP00000387525:Q64H	.	Q	-	3	2	SUN3	48023444	0.013000	0.17824	0.083000	0.20561	0.618000	0.37518	-1.032000	0.03574	-0.506000	0.06558	-0.253000	0.11424	CAG		PASS	0.289	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		7	67	7	67	---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	56149926	56149926	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:56149926A>T	ENST00000297373.2	-	7	762	c.568T>A	c.(568-570)Tac>Aac	p.Y190N	PHKG1_ENST00000452681.2_Missense_Mutation_p.Y222N|PHKG1_ENST00000537360.1_Missense_Mutation_p.Y136N|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)	p.Y190N(1)		endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGGGCCAGGTAACTGGGGGTC	0.602																																					Melanoma(184;580 2064 5329 24177 35303)	uc003trz.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(568-570)TAC>AAC		phosphorylase kinase gamma subunit 1							64.0	65.0	64.0					7																	56149926		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56149926A>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.568T>A	7.37:g.56149926A>T	ENSP00000297373:p.Tyr190Asn					PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.Y84N|PHKG1_uc011kdb.1_Missense_Mutation_p.Y222N|PHKG1_uc011kdc.1_Missense_Mutation_p.Y181N|PHKG1_uc011kdd.1_Missense_Mutation_p.Y136N	p.Y190N	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	763	-	Breast(14;0.214)		190			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.568T>A	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848202	0.91277	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000432123	T;T;T;T	0.69806	1.73;-0.43;-0.43;0.25	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000009	D	0.87382	0.6163	H	0.96301	3.8	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	D	0.91287	0.5056	10	0.87932	D	0	-35.9376	15.1107	0.72355	1.0:0.0:0.0:0.0	.	136;181;222;190	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	N	222;136;190;112	ENSP00000445440:Y222N;ENSP00000441528:Y136N;ENSP00000297373:Y190N;ENSP00000397193:Y112N	ENSP00000297373:Y190N	Y	-	1	0	PHKG1	56117420	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.246000	0.95438	2.234000	0.73211	0.459000	0.35465	TAC		PASS	0.602	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		11	58	11	58	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82585285	82585285	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:82585285C>T	ENST00000333891.9	-	5	5321	c.4984G>A	c.(4984-4986)Gga>Aga	p.G1662R	PCLO_ENST00000423517.2_Missense_Mutation_p.G1662R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G1662R(2)|p.G1593R(1)		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						CGTAGCCCTCCTCCTCCAGTA	0.368																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(4984-4986)GGA>AGA		piccolo isoform 1							130.0	121.0	124.0					7																	82585285		1892	4112	6004	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.chr7:82585285C>T	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.4984G>A	7.37:g.82585285C>T	ENSP00000334319:p.Gly1662Arg					PCLO_uc003uhv.2_Missense_Mutation_p.G1662R	p.G1662R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5273	-			1593						Missense_Mutation	SNP	ENST00000333891.9	37	c.4984G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.471	1.095683	0.20471	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.34072	1.38;1.4	5.31	5.31	0.75309	.	.	.	.	.	T	0.62708	0.2450	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.66662	-0.5867	9	0.87932	D	0	.	18.9766	0.92740	0.0:1.0:0.0:0.0	.	1662;1662	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1593;1662;1662	ENSP00000334319:G1662R;ENSP00000388393:G1662R	ENSP00000334319:G1662R	G	-	1	0	PCLO	82423221	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.881000	0.69706	2.478000	0.83669	0.650000	0.86243	GGA		PASS	0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	181	15	181	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91715617	91715617	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:91715617T>C	ENST00000359028.2	+	37	9337	c.9112T>C	c.(9112-9114)Ttc>Ctc	p.F3038L	AKAP9_ENST00000356239.3_Missense_Mutation_p.F3034L|AKAP9_ENST00000358100.2_Missense_Mutation_p.F2984L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3038					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.F3038L(1)|p.F3034L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAACAAGTTTTCTTAGAAGA	0.423			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(9100-9102)TTC>CTC		A-kinase anchor protein 9 isoform 2							186.0	179.0	182.0					7																	91715617		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91715617T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9112T>C	7.37:g.91715617T>C	ENSP00000351922:p.Phe3038Leu					AKAP9_uc003ulf.2_Missense_Mutation_p.F3026L|AKAP9_uc003uli.2_Missense_Mutation_p.F2657L|AKAP9_uc003ulj.2_Missense_Mutation_p.F804L|AKAP9_uc003ulk.2_Missense_Mutation_p.F309L	p.F3034L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		37	9325	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3038					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9100T>C		.	.	.	.	.	.	.	.	.	.	T	16.27	3.075525	0.55646	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.08634	3.17;3.15;3.36;3.07	4.89	4.89	0.63831	.	0.000000	0.40818	N	0.001013	T	0.31575	0.0801	M	0.82630	2.6	0.53688	D	0.999973	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.997	T	0.06607	-1.0817	10	0.49607	T	0.09	.	14.9723	0.71243	0.0:0.0:0.0:1.0	.	3038;3038;3038;3034;3026	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	3034;3038;2984;3038;880	ENSP00000348573:F3034L;ENSP00000351922:F3038L;ENSP00000350813:F2984L;ENSP00000378042:F880L	ENSP00000348573:F3034L	F	+	1	0	AKAP9	91553553	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.334000	0.65923	2.175000	0.68902	0.477000	0.44152	TTC		PASS	0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		108	440	108	440	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92000830	92000830	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:92000830G>T	ENST00000265742.3	+	11	1902	c.1526G>T	c.(1525-1527)tGt>tTt	p.C509F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	509							zinc ion binding (GO:0008270)	p.C509F(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCGCCAATTGTCTCTGGTTA	0.408																																						uc003ulw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1525-1527)TGT>TTT		ankyrin repeat and IBR domain containing 1							75.0	69.0	71.0					7																	92000830		1892	4116	6008	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92000830G>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1526G>T	7.37:g.92000830G>T	ENSP00000265742:p.Cys509Phe					ANKIB1_uc010lew.1_5'UTR	p.C509F	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	1902	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		509					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1526G>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591787	0.86953	.	.	ENSG00000001629	ENST00000265742	T	0.10192	2.9	5.39	5.39	0.77823	Zinc finger, C6HC-type (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.17474	0.49	0.80722	D	1	P	0.39551	0.678	P	0.46419	0.516	T	0.07404	-1.0774	10	0.51188	T	0.08	.	19.5141	0.95155	0.0:0.0:1.0:0.0	.	509	Q9P2G1	AKIB1_HUMAN	F	509	ENSP00000265742:C509F	ENSP00000265742:C509F	C	+	2	0	ANKIB1	91838766	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.698000	0.92095	0.563000	0.77884	TGT		PASS	0.408	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			6	30	6	30	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101870950	101870950	+	Splice_Site	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:101870950G>T	ENST00000292535.7	+	21	3471		c.e21+1		CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000546411.2_Splice_Site|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACAACCTCGGTAGGTTCTCC	0.597																																						uc003uyx.3																			1	Unknown(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.e21+1		cut-like homeobox 1 isoform a							47.0	45.0	46.0					7																	101870950		2203	4300	6503	SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870950G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3433+1G>T	7.37:g.101870950G>T						CUX1_uc003uys.3_Splice_Site_p.G1156_splice|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.G1145_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN			21	3471	+								B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	c.3433_splice	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353574	0.95830	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101657670	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	.		PASS	0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	Intron	14	88	14	88	---	---	---	---
ING3	54556	broad.mit.edu	37	7	120606683	120606683	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:120606683C>A	ENST00000315870.5	+	6	516	c.368C>A	c.(367-369)tCt>tAt	p.S123Y	ING3_ENST00000431467.1_Missense_Mutation_p.S108Y	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	123					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S123Y(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTTTTAGGATCTTTGGAATTA	0.428																																						uc003vjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)TCT>TAT		inhibitor of growth family, member 3 isoform 1							233.0	206.0	215.0					7																	120606683		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120606683C>A	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.368C>A	7.37:g.120606683C>A	ENSP00000320566:p.Ser123Tyr					ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.S123Y|ING3_uc011kns.1_Missense_Mutation_p.S108Y	p.S123Y	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			6	502	+	all_neural(327;0.117)		123					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.368C>A	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962293	0.92791	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	D;D	0.96491	-4.01;-4.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.77103	2.36	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.75484	0.986;0.974	D	0.98652	1.0680	10	0.87932	D	0	-15.6142	19.9433	0.97172	0.0:1.0:0.0:0.0	.	123;123	Q5GRH6;Q9NXR8	.;ING3_HUMAN	Y	123;108	ENSP00000320566:S123Y;ENSP00000388506:S108Y	ENSP00000320566:S123Y	S	+	2	0	ING3	120393919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	2.716000	0.92895	0.655000	0.94253	TCT		PASS	0.428	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		39	285	39	285	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122033251	122033251	+	Splice_Site	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:122033251T>A	ENST00000449022.2	-	22	3026	c.3007A>T	c.(3007-3009)Acc>Tcc	p.T1003S	CADPS2_ENST00000334010.7_Splice_Site_p.T1001S|CADPS2_ENST00000313070.7_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000591140.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1003	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.T1000S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATACACACGTGGACTCATAT	0.458																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3007-3009)ACC>TCC		Ca2+-dependent activator protein for secretion 2							61.0	61.0	61.0					7																	122033251		2044	4199	6243	SO:0001630	splice_region_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033251T>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3008+1A>T	7.37:g.122033251T>A						CADPS2_uc011knx.1_Missense_Mutation_p.T378S|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron	p.T1003S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			21	3170	-			1003			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3007A>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	T	6.283	0.420277	0.11928	.	.	ENSG00000081803	ENST00000360097;ENST00000334010;ENST00000420900;ENST00000449022	T;T	0.25250	1.81;1.81	5.63	5.63	0.86233	Munc13 homology 1 (1);	0.058759	0.64402	D	0.000002	T	0.17195	0.0413	N	0.19112	0.55	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.07908	-1.0748	10	0.10111	T	0.7	-11.7566	16.1307	0.81436	0.0:0.0:0.0:1.0	.	1007;1003	B7ZM57;Q86UW7	.;CAPS2_HUMAN	S	176;1001;1008;1003	ENSP00000333940:T1001S;ENSP00000398481:T1003S	ENSP00000333940:T1001S	T	-	1	0	CADPS2	121820487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.641000	0.61375	2.263000	0.75096	0.533000	0.62120	ACC		PASS	0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	Missense_Mutation	11	59	11	59	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129095105	129095105	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:129095105G>A	ENST00000249344.2	+	8	767	c.727G>A	c.(727-729)Gag>Aag	p.E243K	STRIP2_ENST00000435494.2_Missense_Mutation_p.E243K	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	243					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.E243K(1)									GCATAATGAGGAGCCTTTTGC	0.502																																						uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GAG>AAG		hypothetical protein LOC57464 isoform a							158.0	145.0	150.0					7																	129095105		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129095105G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.727G>A	7.37:g.129095105G>A	ENSP00000249344:p.Glu243Lys					FAM40B_uc003vow.2_Missense_Mutation_p.E243K|FAM40B_uc011koz.1_5'Flank	p.E243K	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			8	767	+			243					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.727G>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477710	0.96291	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.48836	0.8;0.8	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.992;0.994	T	0.65232	-0.6218	10	0.23302	T	0.38	-24.7353	17.5475	0.87866	0.0:0.0:1.0:0.0	.	243;243	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	K	243	ENSP00000249344:E243K;ENSP00000392393:E243K	ENSP00000249344:E243K	E	+	1	0	FAM40B	128882341	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.410000	0.97335	2.758000	0.94735	0.561000	0.74099	GAG		PASS	0.502	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		84	467	84	467	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129120722	129120722	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:129120722C>T	ENST00000249344.2	+	19	2081	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	STRIP2_ENST00000435494.2_Missense_Mutation_p.R681W	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	681					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R681R(1)|p.R681W(1)									GAAACATTCCCGGACCATGGT	0.428																																						uc011koy.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(2041-2043)CGG>TGG		hypothetical protein LOC57464 isoform a							141.0	122.0	128.0					7																	129120722		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129120722C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2041C>T	7.37:g.129120722C>T	ENSP00000249344:p.Arg681Trp					FAM40B_uc003vow.2_Missense_Mutation_p.R681W|FAM40B_uc011koz.1_Missense_Mutation_p.R173W	p.R681W	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			19	2081	+			681					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2041C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409314	0.62399	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.69040	-0.31;-0.37	5.7	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.84857	0.5565	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86549	0.1833	10	0.87932	D	0	-19.8706	12.1976	0.54307	0.5744:0.4256:0.0:0.0	.	681;681	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	W	681	ENSP00000249344:R681W;ENSP00000392393:R681W	ENSP00000249344:R681W	R	+	1	2	FAM40B	128907958	0.971000	0.33674	1.000000	0.80357	0.885000	0.51271	2.204000	0.42761	0.414000	0.25790	-0.402000	0.06365	CGG		PASS	0.428	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		119	162	119	162	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632546	143632547	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:143632546_143632547CC>TA	ENST00000408955.2	+	1	288_289	c.221_222CC>TA	c.(220-222)gCC>gTA	p.A74V		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A74V(2)|p.A74A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GTCTCCTATGCCACAAGCGTAG	0.515																																						uc011ktv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(220-222)GCC>GTC|c.(220-222)GCC>GCA		olfactory receptor, family 2, subfamily F,																																				SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632546C>T|g.chr7:143632547C>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	Exception_encountered	7.37:g.143632546_143632547delinsTA	ENSP00000386222:p.Ala74Val						p.A74V|p.A74A	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	221|222	+	Melanoma(164;0.0903)		74			Helical; Name=2; (Potential).		A4D2G0|Q6IFP8	Missense_Mutation|Silent	SNP	ENST00000408955.2	37	c.221C>T|c.222C>A	CCDS43666.1																																																																																				PASS	0.515	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			94	656|662	94	656	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144098543	144098543	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:144098543G>C	ENST00000467773.1	-	4	439	c.440C>G	c.(439-441)tCt>tGt	p.S147C	NOBOX_ENST00000483238.1_Missense_Mutation_p.S147C|NOBOX_ENST00000223140.5_Missense_Mutation_p.S62C	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	147					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)	p.S147C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCTTCTCCAGAGACTGCTGG	0.647																																						uc011kue.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)TCT>TGT		NOBOX oogenesis homeobox							22.0	25.0	24.0					7																	144098543		1874	4102	5976	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098543G>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.440C>G	7.37:g.144098543G>C	ENSP00000419457:p.Ser147Cys						p.S147C	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	440	-	Melanoma(164;0.14)		147					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.440C>G		.	.	.	.	.	.	.	.	.	.	G	16.77	3.214538	0.58452	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.94417	-3.05;-3.42;-3.0	4.87	4.87	0.63330	.	1.225470	0.06537	U	0.742479	D	0.93284	0.7860	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.52710	0.707	D	0.86259	0.1654	10	0.54805	T	0.06	-4.7076	13.3792	0.60759	0.0:0.0:1.0:0.0	.	147	O60393	NOBOX_HUMAN	C	147;147;62	ENSP00000419565:S147C;ENSP00000419457:S147C;ENSP00000223140:S62C	ENSP00000223140:S62C	S	-	2	0	NOBOX	143729476	0.002000	0.14202	0.005000	0.12908	0.004000	0.04260	1.243000	0.32767	2.530000	0.85305	0.561000	0.74099	TCT		PASS	0.647	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		33	29	33	29	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149492724	149492724	+	RNA	SNP	C	C	G	rs113524670	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:149492724C>G	ENST00000378016.2	+	0	6504							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTATCGTGACCTCCTGCCTG	0.587																																						uc010lpk.2																			0					0						c.(6502-6504)GAC>GAG		SCO-spondin precursor							139.0	150.0	146.0					7																	149492724		2107	4236	6343			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492724C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492724C>G							p.D2168E	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		44	6504	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2168			F5/8 type C.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6504C>G																																																																																					PASS	0.587	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				97	378	97	378	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	153584801	153584801	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:153584801G>C	ENST00000404039.1	+	1	620	c.33G>C	c.(31-33)aaG>aaC	p.K11N		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					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.K11N(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)			AGACCGCTAAGATGCAGGGGA	0.587																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wli.2																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|breast(1)	4						c.(31-33)AAG>AAC		dipeptidyl-peptidase 6 isoform 3							62.0	59.0	60.0					7																	153584801		1568	3582	5150	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:153584801G>C	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	ENST00000404039.1:c.33G>C	7.37:g.153584801G>C	ENSP00000385578:p.Lys11Asn						p.K11N	NM_001039350	NP_001034439	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		1	383	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	Error:Variant_position_missing_in_P42658_after_alignment						Missense_Mutation	SNP	ENST00000404039.1	37	c.33G>C		.	.	.	.	.	.	.	.	.	.	G	11.21	1.571654	0.28003	.	.	ENSG00000130226	ENST00000404039	T	0.14516	2.5	4.93	-0.985	0.10256	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.01874	-1.1256	8	0.42905	T	0.14	.	8.2905	0.31954	0.5606:0.0:0.4394:0.0	.	11	E9PF59	.	N	11	ENSP00000385578:K11N	ENSP00000385578:K11N	K	+	3	2	DPP6	153215734	1.000000	0.71417	0.948000	0.38648	0.977000	0.68977	0.405000	0.21015	-0.450000	0.07107	0.557000	0.71058	AAG		PASS	0.587	DPP6-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000322930.1	NM_130797		7	44	7	44	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	13948076	13948076	+	Missense_Mutation	SNP	C	C	A	rs377448428		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:13948076C>A	ENST00000382080.1	-	8	1530	c.815G>T	c.(814-816)aGc>aTc	p.S272I	SGCZ_ENST00000421524.2_Missense_Mutation_p.S225I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	259					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.S272I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACTTGAGGAGCTGGGTGAAGA	0.428																																						uc003wwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(814-816)AGC>ATC		sarcoglycan zeta							129.0	121.0	123.0					8																	13948076		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13948076C>A	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.815G>T	8.37:g.13948076C>A	ENSP00000371512:p.Ser272Ile					SGCZ_uc010lss.2_Missense_Mutation_p.S225I	p.S272I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1475	-			259			Poly-Ser.|Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.815G>T	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779210	0.49891	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.11169	2.8;2.8	5.5	5.5	0.81552	.	0.333930	0.40469	N	0.001098	T	0.11580	0.0282	L	0.43152	1.355	0.38090	D	0.936934	B;P	0.36249	0.371;0.545	B;B	0.36608	0.229;0.192	T	0.03728	-1.1009	10	0.54805	T	0.06	.	12.131	0.53942	0.0:0.9219:0.0:0.0781	.	225;272	Q08AT0;Q96LD1-2	.;.	I	272;225	ENSP00000371512:S272I;ENSP00000405224:S225I	ENSP00000371512:S272I	S	-	2	0	SGCZ	13992447	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.734000	0.55037	2.760000	0.94817	0.655000	0.94253	AGC		PASS	0.428	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		41	182	41	182	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C	rs375815032	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:17611496G>C	ENST00000262102.6	-	2	2045	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433																																						uc003wxv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1819-1821)GCC>GCG		mitochondrial tumor suppressor 1 isoform 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1821C>G	8.37:g.17611496G>C						MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A	p.A607A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2295	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>G	CCDS43717.1																																																																																				PASS	0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		88	458	88	458	---	---	---	---
FGL1	2267	broad.mit.edu	37	8	17722242	17722242	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:17722242C>T	ENST00000398056.2	-	10	1613	c.798G>A	c.(796-798)ctG>ctA	p.L266L	FGL1_ENST00000427924.1_Silent_p.L266L|FGL1_ENST00000398054.1_Silent_p.L266L|FGL1_ENST00000518650.1_Silent_p.L266L|FGL1_ENST00000381841.2_Silent_p.L266L|FGL1_ENST00000381840.2_Silent_p.L266L|FGL1_ENST00000522444.1_Silent_p.L266L			Q08830	FGL1_HUMAN	fibrinogen-like 1	266	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.L266L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ATACACCATTCAGGTTTGCAG	0.413																																						uc003wxx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)CTG>CTA		fibrinogen-like 1 precursor							59.0	61.0	60.0					8																	17722242		2203	4300	6503	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17722242C>T	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.798G>A	8.37:g.17722242C>T						FGL1_uc003wxy.2_Silent_p.L266L|FGL1_uc003wxz.2_Silent_p.L265L|FGL1_uc003wya.2_Silent_p.L266L|FGL1_uc003wyb.2_Silent_p.L266L|FGL1_uc003wyc.2_Silent_p.L266L|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.L316L|FGL1_uc003wyf.2_Silent_p.L236L	p.L266L	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	9	1122	-			266			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.798G>A	CCDS6004.1																																																																																				PASS	0.413	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		10	39	10	39	---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19362722	19362722	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:19362722A>T	ENST00000454498.2	-	4	1637	c.624T>A	c.(622-624)gaT>gaA	p.D208E	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D208E|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D208E|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D208E|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D208E	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	208					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.D208E(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTTCTATGAAATCAGAGGCCG	0.532																																						uc011kyn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(622-624)GAT>GAA		chondroitin sulfate							106.0	99.0	102.0					8																	19362722		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19362722A>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.624T>A	8.37:g.19362722A>T	ENSP00000411816:p.Asp208Glu					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D208E|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D207E|CSGALNACT1_uc003wzh.2_RNA	p.D208E	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1688	-			208			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.624T>A	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.283047	0.59867	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	6.04	-0.205	0.13196	.	0.095643	0.64402	D	0.000001	T	0.19604	0.0471	M	0.63169	1.94	0.54753	D	0.99998	B	0.30361	0.277	B	0.42593	0.392	T	0.05146	-1.0903	10	0.17369	T	0.5	-23.1619	13.8214	0.63322	0.2991:0.0:0.7009:0.0	.	208	Q8TDX6	CGAT1_HUMAN	E	208	ENSP00000411816:D208E;ENSP00000330805:D208E;ENSP00000310891:D208E;ENSP00000429809:D208E;ENSP00000442155:D208E	ENSP00000310891:D208E	D	-	3	2	CSGALNACT1	19407002	1.000000	0.71417	0.974000	0.42286	0.498000	0.33706	0.842000	0.27627	-0.254000	0.09500	0.460000	0.39030	GAT		PASS	0.532	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		52	120	52	120	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30706460	30706460	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:30706460C>A	ENST00000256246.2	-	1	148	c.74G>T	c.(73-75)aGt>aTt	p.S25I	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	25					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S25I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTAAGACCACTTAAAATATT	0.378																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(73-75)AGT>ATT		testis expressed 15							95.0	92.0	93.0					8																	30706460		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30706460C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.74G>T	8.37:g.30706460C>A	ENSP00000256246:p.Ser25Ile					TEX15_uc011lbc.1_Missense_Mutation_p.S412I	p.S25I	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	74	-			25						Missense_Mutation	SNP	ENST00000256246.2	37	c.74G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149994	0.37923	.	.	ENSG00000133863	ENST00000256246	T	0.12361	2.69	5.87	2.5	0.30297	.	0.263977	0.33650	N	0.004695	T	0.19886	0.0478	L	0.34521	1.04	0.26573	N	0.973518	P;D	0.76494	0.93;0.999	P;D	0.68943	0.564;0.961	T	0.01330	-1.1383	10	0.87932	D	0	.	5.8828	0.18864	0.0:0.63:0.1568:0.2132	.	305;25	D3DSV6;Q9BXT5	.;TEX15_HUMAN	I	25	ENSP00000256246:S25I	ENSP00000256246:S25I	S	-	2	0	TEX15	30826002	0.291000	0.24352	0.975000	0.42487	0.209000	0.24338	0.308000	0.19314	1.495000	0.48549	0.591000	0.81541	AGT		PASS	0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			107	125	107	125	---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33318925	33318925	+	Missense_Mutation	SNP	C	C	A	rs368379310		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:33318925C>A	ENST00000327671.5	-	2	677	c.46G>T	c.(46-48)Gtc>Ttc	p.V16F	FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552																																						uc003xje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(46-48)GTC>TTC		fucosyltransferase 10							193.0	140.0	158.0					8																	33318925		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33318925C>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.46G>T	8.37:g.33318925C>A	ENSP00000332757:p.Val16Phe					FUT10_uc003xjd.2_Intron|FUT10_uc011lbi.1_Intron|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_5'UTR|FUT10_uc003xjh.2_Missense_Mutation_p.V16F|FUT10_uc003xji.1_Missense_Mutation_p.V16F	p.V16F	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	2	402	-			16			Helical; Signal-anchor for type II membrane protein; (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.46G>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613314	0.28712	.	.	ENSG00000172728	ENST00000327671;ENST00000380081	T	0.24723	1.84	5.79	-7.96	0.01144	.	4.130980	0.00397	N	0.000045	T	0.10895	0.0266	N	0.08118	0	0.19300	N	0.99998	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.001;0.002;0.003	T	0.16217	-1.0410	10	0.32370	T	0.25	-4.1582	5.2209	0.15368	0.1187:0.5015:0.1214:0.2584	.	16;16;16	B4DLS4;Q6P4F1-5;Q6P4F1	.;.;FUT10_HUMAN	F	16	ENSP00000332757:V16F	ENSP00000332757:V16F	V	-	1	0	FUT10	33438467	0.000000	0.05858	0.268000	0.24571	0.925000	0.55904	-3.147000	0.00583	-1.286000	0.02384	-0.304000	0.09214	GTC		PASS	0.552	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		45	59	45	59	---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37972489	37972489	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:37972489G>T	ENST00000343823.6	+	7	1057	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	ASH2L_ENST00000428278.2_Missense_Mutation_p.D156Y|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000250635.7_Missense_Mutation_p.D156Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.D156Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.D111Y	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	250					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.D250Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TCCAGAAGAAGATTACCCCAA	0.338																																						uc003xkt.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(748-750)GAT>TAT		ash2-like isoform a							73.0	75.0	74.0					8																	37972489		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37972489G>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.748G>T	8.37:g.37972489G>T	ENSP00000340896:p.Asp250Tyr					ASH2L_uc011lbk.1_Missense_Mutation_p.D111Y|ASH2L_uc003xku.3_Missense_Mutation_p.D156Y|ASH2L_uc010lwa.2_Missense_Mutation_p.D156Y	p.D250Y	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN			7	806	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	250					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.748G>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758827	0.89843	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.45	5.45	0.79879	.	0.087328	0.85682	D	0.000000	T	0.29783	0.0744	L	0.29908	0.895	0.80722	D	1	P;D	0.63880	0.909;0.993	B;P	0.48677	0.337;0.586	T	0.02132	-1.1208	10	0.52906	T	0.07	.	19.2841	0.94063	0.0:0.0:1.0:0.0	.	156;250	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	250;156;111;156;156	ENSP00000340896:D250Y;ENSP00000250635:D156Y;ENSP00000443606:D111Y;ENSP00000395310:D156Y;ENSP00000430259:D156Y	ENSP00000250635:D156Y	D	+	1	0	ASH2L	38091646	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.563000	0.98148	2.558000	0.86282	0.561000	0.74099	GAT		PASS	0.338	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		13	74	13	74	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538974	55538974	+	Silent	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:55538974T>A	ENST00000220676.1	+	4	2680	c.2532T>A	c.(2530-2532)tcT>tcA	p.S844S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	844					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S844S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTGGCATCTGGGTATTTGA	0.333																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(2530-2532)TCT>TCA		retinitis pigmentosa RP1 protein							43.0	46.0	45.0					8																	55538974		2201	4298	6499	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538974T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2532T>A	8.37:g.55538974T>A						RP1_uc011ldy.1_Intron	p.S844S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2680	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	844						Silent	SNP	ENST00000220676.1	37	c.2532T>A	CCDS6160.1																																																																																				PASS	0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		45	65	45	65	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68169977	68169977	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:68169977T>C	ENST00000262215.3	-	17	2905	c.2516A>G	c.(2515-2517)cAc>cGc	p.H839R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.H293R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	839	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.H839R(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGTGGACTGTGAAGGTCTGT	0.313																																						uc003xxo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(2515-2517)CAC>CGC		brefeldin A-inhibited guanine							118.0	118.0	118.0					8																	68169977		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68169977T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2516A>G	8.37:g.68169977T>C	ENSP00000262215:p.His839Arg					ARFGEF1_uc003xxl.1_Missense_Mutation_p.H293R	p.H839R	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		17	2906	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	839			SEC7.		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2516A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467144	0.84533	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.69561	-0.41;-0.41	5.2	5.2	0.72013	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.88100	0.6346	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92318	0.5863	10	0.87932	D	0	.	15.0933	0.72215	0.0:0.0:0.0:1.0	.	839;293	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	R	293;839	ENSP00000428429:H293R;ENSP00000262215:H839R	ENSP00000262215:H839R	H	-	2	0	ARFGEF1	68332531	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	1.961000	0.56991	0.460000	0.39030	CAC		PASS	0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		44	195	44	195	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92401612	92401613	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:92401612_92401613GG>TT	ENST00000276609.3	+	16	1961_1962	c.1722_1723GG>TT	c.(1720-1725)ctGGat>ctTTat	p.D575Y	SLC26A7_ENST00000523719.1_Missense_Mutation_p.D575Y|SLC26A7_ENST00000309536.2_Missense_Mutation_p.D575Y|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.D575Y(4)|p.L574L(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATTTAATCCTGGATTGCAGTGG	0.401																																						uc003yex.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)	2						c.(1720-1722)CTG>CTT|c.(1723-1725)GAT>TAT		solute carrier family 26, member 7 isoform a																																				SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92401612G>T|g.chr8:92401613G>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	Exception_encountered	8.37:g.92401612_92401613delinsTT	ENSP00000276609:p.Asp575Tyr					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.L574L|SLC26A7_uc003yfa.2_Silent_p.L574L|SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.D575Y|SLC26A7_uc003yfa.2_Missense_Mutation_p.D575Y	p.L574L|p.D575Y	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		17	2000|2001	+			574|575			STAS.|Cytoplasmic (Potential).			Silent|Missense_Mutation	SNP	ENST00000276609.3	37	c.1722G>T|c.1723G>T	CCDS6254.1																																																																																				PASS	0.401	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			107|108	260|257	107	257	---	---	---	---
STK3	6788	broad.mit.edu	37	8	99539019	99539019	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:99539019T>C	ENST00000419617.2	-	10	1408	c.1268A>G	c.(1267-1269)aAc>aGc	p.N423S	STK3_ENST00000523601.1_Missense_Mutation_p.N451S	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	423					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)	p.N423S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AGGAAAAACGTTTTTGGACAT	0.338																																						uc003yip.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1267-1269)AAC>AGC		serine/threonine kinase 3							123.0	116.0	118.0					8																	99539019		1848	4096	5944	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99539019T>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1268A>G	8.37:g.99539019T>C	ENSP00000390500:p.Asn423Ser					STK3_uc003yio.2_Missense_Mutation_p.N451S	p.N423S	NM_006281	NP_006272	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	10	1409	-	Breast(36;2.4e-06)	Breast(495;0.106)	423					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1268A>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	9.825	1.186810	0.21870	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.32272	1.46;1.46	5.42	4.22	0.49857	.	0.106286	0.64402	N	0.000009	T	0.14399	0.0348	N	0.08118	0	0.41431	D	0.98786	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07328	-1.0778	10	0.09338	T	0.73	.	11.7689	0.51947	0.0:0.0704:0.0:0.9296	.	423;451	Q13188;B3KYA7	STK3_HUMAN;.	S	423;451	ENSP00000390500:N423S;ENSP00000429744:N451S	ENSP00000390500:N423S	N	-	2	0	STK3	99608195	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.980000	0.49321	0.946000	0.37632	0.455000	0.32223	AAC		PASS	0.338	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		79	92	79	92	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106801085	106801085	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:106801085G>T	ENST00000407775.2	+	6	922	c.672G>T	c.(670-672)ctG>ctT	p.L224L	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.L92L|ZFPM2_ENST00000517361.1_Silent_p.L92L|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	224					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L224L(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACGCCTGCTGGACTCAATTC	0.498																																						uc003ymd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(670-672)CTG>CTT		zinc finger protein, multitype 2							93.0	91.0	91.0					8																	106801085		1998	4191	6189	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106801085G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.672G>T	8.37:g.106801085G>T						ZFPM2_uc011lhs.1_5'UTR	p.L224L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		6	695	+			224					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.672G>T	CCDS47908.1																																																																																				PASS	0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			17	119	17	119	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106813738	106813738	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:106813738C>T	ENST00000407775.2	+	8	1678	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.S207S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S344S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.S344S|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	476					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S476S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCCCTCTAGCCCAAGACTTG	0.443																																						uc003ymd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1426-1428)AGC>AGT		zinc finger protein, multitype 2							93.0	97.0	96.0					8																	106813738		1872	4099	5971	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813738C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1428C>T	8.37:g.106813738C>T						ZFPM2_uc011lhs.1_Silent_p.S207S	p.S476S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1451	+			476					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1428C>T	CCDS47908.1																																																																																				PASS	0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			53	241	53	241	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110424514	110424514	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:110424514G>C	ENST00000378402.5	+	20	2210	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	702					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q704H(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)			ACAGAGGGCAGAAGACAGCTG	0.408										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.(2104-2106)CAG>CAC		fibrocystin L precursor							119.0	111.0	113.0					8																	110424514		1860	4106	5966	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110424514G>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.2106G>C	8.37:g.110424514G>C	ENSP00000367655:p.Gln702His	HNSCC(38;0.096)					p.Q702H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		20	2210	+			702			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2106G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737184	0.49045	.	.	ENSG00000205038	ENST00000378402	D	0.85955	-2.05	4.9	4.02	0.46733	.	0.485483	0.20250	N	0.096101	T	0.81118	0.4756	L	0.57536	1.79	0.25043	N	0.991185	P	0.38148	0.62	B	0.37508	0.252	T	0.72134	-0.4382	10	0.40728	T	0.16	.	9.3905	0.38370	0.1001:0.0:0.8999:0.0	.	702	Q86WI1	PKHL1_HUMAN	H	702	ENSP00000367655:Q702H	ENSP00000367655:Q702H	Q	+	3	2	PKHD1L1	110493690	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.967000	0.40491	1.192000	0.43071	0.485000	0.47835	CAG		PASS	0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		22	104	22	104	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326155	113326155	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:113326155C>G	ENST00000297405.5	-	49	7920	c.7676G>C	c.(7675-7677)gGc>gCc	p.G2559A	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2519A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2489A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2455A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2559	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2559A(1)|p.G2519A(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						TATCCGGAAGCCTTTTTTGTT	0.358										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.(7675-7677)GGC>GCC		CUB and Sushi multiple domains 3 isoform 1							115.0	119.0	117.0					8																	113326155		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326155C>G	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.7676G>C	8.37:g.113326155C>G	ENSP00000297405:p.Gly2559Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1761A|CSMD3_uc003ynt.2_Missense_Mutation_p.G2519A|CSMD3_uc011lhx.1_Missense_Mutation_p.G2455A|CSMD3_uc003ynw.1_Missense_Mutation_p.G270A	p.G2559A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			49	7835	-			2559			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7676G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712919	0.89112	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.63	5.63	0.86233	CUB (5);	0.000000	0.64402	D	0.000001	T	0.78246	0.4253	H	0.99211	4.47	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.993;1.0	D	0.86778	0.1977	10	0.54805	T	0.06	.	19.6579	0.95851	0.0:1.0:0.0:0.0	.	2455;2559;2519	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2519;2559;1829;2455;2489	ENSP00000345799:G2519A;ENSP00000297405:G2559A;ENSP00000341558:G1829A;ENSP00000412263:G2455A;ENSP00000343124:G2489A	ENSP00000297405:G2559A	G	-	2	0	CSMD3	113395331	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.072000	0.71238	2.636000	0.89361	0.579000	0.79373	GGC		PASS	0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		62	123	62	123	---	---	---	---
DEPTOR	64798	broad.mit.edu	37	8	120977528	120977528	+	Missense_Mutation	SNP	A	A	T	rs369187195		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:120977528A>T	ENST00000286234.5	+	4	612	c.482A>T	c.(481-483)tAt>tTt	p.Y161F	DEPTOR_ENST00000523492.1_Missense_Mutation_p.Y60F	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	161	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.Y161F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGGGTCAAGTATGAGCGCACC	0.522																																						uc003yow.3																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)TAT>TTT		DEP domain containing 6							111.0	96.0	101.0					8																	120977528		2203	4300	6503	SO:0001583	missense	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977528A>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.482A>T	8.37:g.120977528A>T	ENSP00000286234:p.Tyr161Phe					DEPDC6_uc011lid.1_Missense_Mutation_p.Y60F	p.Y161F	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	669	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		161			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.482A>T	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954355	0.53293	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.18810	2.19;2.19	5.31	5.31	0.75309	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.116646	0.64402	D	0.000013	T	0.33235	0.0856	M	0.73372	2.23	0.54753	D	0.999987	P;P	0.48230	0.907;0.907	P;P	0.48654	0.585;0.585	T	0.06844	-1.0804	10	0.31617	T	0.26	-21.1665	15.2821	0.73794	1.0:0.0:0.0:0.0	.	60;161	E7EV87;Q8TB45	.;DPTOR_HUMAN	F	60;161	ENSP00000430457:Y60F;ENSP00000286234:Y161F	ENSP00000286234:Y161F	Y	+	2	0	DEPTOR	121046709	1.000000	0.71417	0.933000	0.37362	0.350000	0.29205	5.024000	0.64090	2.013000	0.59113	0.533000	0.62120	TAT		PASS	0.522	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		75	99	75	99	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964616	123964616	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:123964616A>T	ENST00000314393.4	+	3	1701	c.866A>T	c.(865-867)cAg>cTg	p.Q289L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	289	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q289L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TACCCGACCCAGGCTGAGTTG	0.517																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(865-867)CAG>CTG		zinc fingers and homeoboxes 2							97.0	96.0	97.0					8																	123964616		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964616A>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.866A>T	8.37:g.123964616A>T	ENSP00000314709:p.Gln289Leu						p.Q289L	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1433	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		289			Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Homeobox 1.			Missense_Mutation	SNP	ENST00000314393.4	37	c.866A>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	9.325	1.059144	0.19987	.	.	ENSG00000178764	ENST00000314393	D	0.91295	-2.82	5.93	5.93	0.95920	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90349	0.4365	10	0.15952	T	0.53	-19.5871	16.3817	0.83467	1.0:0.0:0.0:0.0	.	289	Q9Y6X8	ZHX2_HUMAN	L	289	ENSP00000314709:Q289L	ENSP00000314709:Q289L	Q	+	2	0	ZHX2	124033797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.918000	0.92759	2.276000	0.75962	0.454000	0.30748	CAG		PASS	0.517	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		109	132	109	132	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139825240	139825240	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:139825240A>G	ENST00000303045.6	-	8	1714	c.1268T>C	c.(1267-1269)aTc>aCc	p.I423T	COL22A1_ENST00000435777.1_Missense_Mutation_p.I423T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	423	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I423T(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)			GTCACAATAGATCACAATCCG	0.512										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1267-1269)ATC>ACC		collagen, type XXII, alpha 1							142.0	119.0	127.0					8																	139825240		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139825240A>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.1268T>C	8.37:g.139825240A>G	ENSP00000303153:p.Ile423Thr	HNSCC(7;0.00092)					p.I423T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		8	1715	-	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)		423			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1268T>C	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739998	0.69304	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.04083	3.71;3.71	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.162476	0.28262	U	0.015989	T	0.08403	0.0209	M	0.77616	2.38	0.51767	D	0.999939	P	0.37781	0.608	B	0.34722	0.188	T	0.08700	-1.0709	9	.	.	.	.	11.984	0.53135	1.0:0.0:0.0:0.0	.	423	Q8NFW1	COMA1_HUMAN	T	423	ENSP00000303153:I423T;ENSP00000387655:I423T	.	I	-	2	0	COL22A1	139894422	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	8.730000	0.91510	1.787000	0.52448	0.378000	0.23410	ATC		PASS	0.512	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		77	110	77	110	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874791	144874791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:144874791G>A	ENST00000320476.3	-	31	4198	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q1317*|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q1398*|SCRIB_ENST00000546337.1_5'UTR|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1398					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.Q1398*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCTCTTCTGCTGTAGTTTT	0.682																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Nonsense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(4192-4194)CAG>TAG		scribble isoform b							20.0	21.0	21.0					8																	144874791		2200	4295	6495	SO:0001587	stop_gained	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874791G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4192C>T	8.37:g.144874791G>A	ENSP00000322938:p.Gln1398*					SCRIB_uc003yzn.1_Nonsense_Mutation_p.Q131*|SCRIB_uc003yzo.1_Nonsense_Mutation_p.Q1398*	p.Q1398*	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		31	4199	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1398			Potential.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	c.4192C>T	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.719456|9.719456	0.99247|0.99247	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533	.|.	.|.	.|.	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53049|.	-0.8493|.	3|.	.|0.34782	.|T	.|0.22	.|.	6.3471|6.3471	0.21355|0.21355	0.0957:0.0:0.7239:0.1803|0.0957:0.0:0.7239:0.1803	.|.	.|.	.|.	.|.	V|X	417|1398;1398;1317	.|.	.|ENSP00000322938:Q1398X	A|Q	-|-	2|1	0|0	SCRIB|SCRIB	144946779|144946779	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.579000|0.579000	0.36224|0.36224	2.837000|2.837000	0.48191|0.48191	1.027000|1.027000	0.39758|0.39758	0.561000|0.561000	0.74099|0.74099	GCA|CAG		PASS	0.682	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		8	9	8	9	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145692682	145692682	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr8:145692682G>T	ENST00000301332.2	+	4	804	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	CYHR1_ENST00000403000.2_5'Flank|KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	143					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G143W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTGCTCCAGGGGACTCAGCC	0.617											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(427-429)GGG>TGG		kinesin family member C2							41.0	50.0	47.0					8																	145692682		2203	4299	6502	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145692682G>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.427G>T	8.37:g.145692682G>T	ENSP00000301332:p.Gly143Trp		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.G143W	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		4	492	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		143					E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.427G>T	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286156	0.59867	.	.	ENSG00000167702	ENST00000301332	T	0.48522	0.81	4.94	2.99	0.34606	.	0.232382	0.22265	N	0.062349	T	0.47322	0.1439	L	0.32530	0.975	0.25166	N	0.990315	D	0.63046	0.992	P	0.58577	0.841	T	0.24119	-1.0169	10	0.66056	D	0.02	-5.7625	7.2018	0.25885	0.0953:0.0:0.7315:0.1732	.	143	Q96AC6	KIFC2_HUMAN	W	143	ENSP00000301332:G143W	ENSP00000301332:G143W	G	+	1	0	KIFC2	145663490	0.000000	0.05858	0.416000	0.26546	0.867000	0.49689	0.262000	0.18460	2.441000	0.82636	0.563000	0.77884	GGG		PASS	0.617	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		61	111	61	111	---	---	---	---
B4GALT1	2683	broad.mit.edu	37	9	33135352	33135352	+	Silent	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:33135352C>G	ENST00000379731.4	-	2	669	c.483G>C	c.(481-483)gtG>gtC	p.V161V	B4GALT1_ENST00000535206.1_Silent_p.V161V	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	161					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)	p.V161V(1)		endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CGCCCATCTTCACATTTGGGT	0.577																																						uc003zsg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)GTG>GTC		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						91.0	77.0	82.0					9																	33135352		2203	4300	6503	SO:0001819	synonymous_variant	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135352C>G	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.483G>C	9.37:g.33135352C>G							p.V161V	NM_001497	NP_001488	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	672	-			161			Lumenal (Potential).		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Silent	SNP	ENST00000379731.4	37	c.483G>C	CCDS6535.1																																																																																				PASS	0.577	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		19	101	19	101	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34493233	34493233	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:34493233G>C	ENST00000242317.4	+	9	894	c.723G>C	c.(721-723)caG>caC	p.Q241H	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	241					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.Q241H(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TTGAGAAGCAGGAAAAGACCA	0.463									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)CAG>CAC		dynein, axonemal, intermediate chain 1							115.0	112.0	113.0					9																	34493233		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34493233G>C	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.723G>C	9.37:g.34493233G>C	ENSP00000242317:p.Gln241His						p.Q241H	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	9	916	+	all_epithelial(49;0.244)		241					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.723G>C	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518697	0.64634	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.74947	-0.89;-0.89	5.36	2.07	0.26955	.	0.381500	0.27027	N	0.021298	T	0.79155	0.4398	M	0.85630	2.765	0.80722	D	1	D	0.60160	0.987	P	0.51266	0.664	T	0.78773	-0.2073	10	0.56958	D	0.05	.	7.9999	0.30291	0.2984:0.0:0.7016:0.0	.	241	Q9UI46	DNAI1_HUMAN	H	230;241;230	ENSP00000242317:Q241H;ENSP00000395396:Q230H	ENSP00000242317:Q241H	Q	+	3	2	DNAI1	34483233	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.470000	0.35354	0.657000	0.30906	0.563000	0.77884	CAG		PASS	0.463	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			36	170	36	170	---	---	---	---
CNTFR	1271	broad.mit.edu	37	9	34556282	34556282	+	Missense_Mutation	SNP	G	G	C	rs555346811		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:34556282G>C	ENST00000378980.3	-	7	1032	c.739C>G	c.(739-741)Cga>Gga	p.R247G	CNTFR_ENST00000351266.4_Missense_Mutation_p.R247G	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	247	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.R247G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ATGAGGGGTCGGTAGCGCAGA	0.612																																						uc003zup.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(739-741)CGA>GGA		ciliary neurotrophic factor receptor							77.0	56.0	63.0					9																	34556282		2203	4300	6503	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34556282G>C	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.739C>G	9.37:g.34556282G>C	ENSP00000368265:p.Arg247Gly					CNTFR_uc003zuq.1_Missense_Mutation_p.R247G	p.R247G	NM_147164	NP_671693	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	7	1020	-	all_epithelial(49;0.0899)		247			Fibronectin type-III 2.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.739C>G	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032908	0.75504	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.77877	0.28;0.28;-1.13	5.52	4.59	0.56863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.074134	0.52532	D	0.000069	D	0.84875	0.5569	M	0.64080	1.96	0.38513	D	0.948511	D	0.65815	0.995	D	0.80764	0.994	D	0.88509	0.3088	9	0.87932	D	0	.	11.6504	0.51286	0.0:0.0:0.6956:0.3044	.	247	P26992	CNTFR_HUMAN	G	247	ENSP00000368265:R247G;ENSP00000242338:R247G;ENSP00000388082:R247G	ENSP00000242338:R247G	R	-	1	2	CNTFR	34546282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.423000	0.52756	2.592000	0.87571	0.651000	0.88453	CGA		PASS	0.612	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			8	49	8	49	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555352	35555352	+	Missense_Mutation	SNP	G	G	C	rs369541476		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:35555352G>C	ENST00000455600.1	+	3	2879	c.2310G>C	c.(2308-2310)gaG>gaC	p.E770D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	770						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.E770D(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGAGCCAGAGACCTCTCGGC	0.652																																						uc003zww.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2308-2310)GAG>GAC		RUN and SH3 domain containing 2							62.0	68.0	66.0					9																	35555352		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555352G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2310G>C	9.37:g.35555352G>C	ENSP00000393922:p.Glu770Asp					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E770D	p.E770D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2565	+			770					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2310G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794957	0.16327	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23754	1.89;1.89	4.54	-0.109	0.13584	.	0.200124	0.42821	D	0.000647	T	0.09642	0.0237	N	0.12746	0.255	0.30540	N	0.766513	B	0.09022	0.002	B	0.08055	0.003	T	0.09840	-1.0656	10	0.25106	T	0.35	-12.0738	2.0391	0.03546	0.3122:0.1328:0.4211:0.1339	.	770	Q8N2Y8	RUSC2_HUMAN	D	770	ENSP00000355177:E770D;ENSP00000393922:E770D	ENSP00000355177:E770D	E	+	3	2	RUSC2	35545352	0.996000	0.38824	1.000000	0.80357	0.718000	0.41266	0.289000	0.18957	0.352000	0.24053	0.563000	0.77884	GAG		PASS	0.652	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	274	9	274	---	---	---	---
SIT1	27240	broad.mit.edu	37	9	35650382	35650382	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:35650382C>T	ENST00000259608.3	-	3	353	c.267G>A	c.(265-267)ctG>ctA	p.L89L	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	89					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)	p.L89L(1)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTCCCATACAGCGGGACCT	0.587																																						uc003zxe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(265-267)CTG>CTA		SHP2-interacting transmembrane adaptor protein							83.0	83.0	83.0					9																	35650382		2203	4300	6503	SO:0001819	synonymous_variant	27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650382C>T		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.267G>A	9.37:g.35650382C>T						SIT1_uc003zxf.1_RNA	p.L89L	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	364	-			89			Cytoplasmic (Potential).		B2RBP9	Silent	SNP	ENST00000259608.3	37	c.267G>A	CCDS6582.1																																																																																				PASS	0.587	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		23	137	23	137	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39177329	39177329	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:39177329C>A	ENST00000297668.6	-	6	986	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D305Y|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D305Y|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D305Y|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D217Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	305	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D305Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAATTAAGATCCAAGTAACTG	0.368																																						uc004abi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)GAT>TAT		cell recognition molecule CASPR3 precursor							59.0	59.0	59.0					9																	39177329		2202	4299	6501	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39177329C>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.913G>T	9.37:g.39177329C>A	ENSP00000297668:p.Asp305Tyr					CNTNAP3_uc004abj.2_Missense_Mutation_p.D305Y|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.D305Y|CNTNAP3_uc011lqs.1_Missense_Mutation_p.D305Y|CNTNAP3_uc004abl.1_Missense_Mutation_p.D217Y	p.D305Y	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	6	1152	-			305			Extracellular (Potential).|Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.913G>T	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564712	0.86439	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	3.02	3.02	0.34903	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.88797	0.6534	M	0.89904	3.07	0.44129	D	0.99691	D;D;D;D;P	0.76494	0.999;0.958;0.993;0.984;0.915	D;D;P;D;P	0.79108	0.992;0.91;0.88;0.958;0.88	D	0.90143	0.4215	9	0.51188	T	0.08	.	13.1143	0.59292	0.0:1.0:0.0:0.0	.	305;305;305;305;305	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	Y	305;305;217;305;305;217	ENSP00000297668:D305Y;ENSP00000366884:D305Y;ENSP00000350863:D217Y;ENSP00000320728:D305Y;ENSP00000366887:D305Y	ENSP00000297668:D305Y	D	-	1	0	CNTNAP3	39167329	1.000000	0.71417	0.884000	0.34674	0.896000	0.52359	2.146000	0.42216	1.675000	0.50919	0.558000	0.71614	GAT		PASS	0.368	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		64	73	64	73	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84608637	84608637	+	Silent	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:84608637T>C	ENST00000344803.2	+	4	3299	c.3252T>C	c.(3250-3252)gaT>gaC	p.D1084D		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1084					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D1084D(2)									CAACAGAGGATGGCAGACAGA	0.498																																						uc004amn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3250-3252)GAT>GAC		hypothetical protein LOC389763							44.0	47.0	46.0					9																	84608637		1919	4124	6043	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84608637T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3252T>C	9.37:g.84608637T>C							p.D1084D	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3299	+			1084						Silent	SNP	ENST00000344803.2	37	c.3252T>C	CCDS47986.1																																																																																				PASS	0.498	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		16	93	16	93	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88967621	88967621	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:88967621G>A	ENST00000375963.3	-	2	666	c.494C>T	c.(493-495)aCg>aTg	p.T165M	ZCCHC6_ENST00000375947.1_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.T165M|ZCCHC6_ENST00000277141.6_De_novo_Start_OutOfFrame|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.T165M	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	165					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.T165M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATTTCTGACGTGGTTTCTAG	0.403																																						uc004aoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(493-495)ACG>ATG		zinc finger, CCHC domain containing 6							158.0	159.0	159.0					9																	88967621		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967621G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.494C>T	9.37:g.88967621G>A	ENSP00000365130:p.Thr165Met					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aou.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aov.2_Missense_Mutation_p.T165M|ZCCHC6_uc004aow.2_Missense_Mutation_p.T165M|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T165M	p.T165M	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			2	709	-			165					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.494C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	0.485	-0.877976	0.02550	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.37915	1.17;1.17;1.17	4.46	-0.655	0.11439	.	0.688144	0.14769	N	0.299488	T	0.09992	0.0245	N	0.01576	-0.805	0.22996	N	0.998456	B;B;B;B;B	0.12013	0.005;0.001;0.003;0.005;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.002;0.003;0.0	T	0.32771	-0.9894	10	0.12430	T	0.62	-16.3883	4.7849	0.13220	0.6344:0.0:0.2304:0.1353	.	165;165;165;165;165	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	M	165	ENSP00000365127:T165M;ENSP00000365128:T165M;ENSP00000365130:T165M	ENSP00000365127:T165M	T	-	2	0	ZCCHC6	88157441	0.686000	0.27661	0.993000	0.49108	0.978000	0.69477	1.871000	0.39539	-0.103000	0.12175	-0.469000	0.05056	ACG		PASS	0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		49	252	49	252	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797579	117797579	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:117797579C>G	ENST00000350763.4	-	22	6102	c.5691G>C	c.(5689-5691)gaG>gaC	p.E1897D	TNC_ENST00000340094.3_Missense_Mutation_p.E1533D|TNC_ENST00000346706.3_Missense_Mutation_p.E1351D|TNC_ENST00000537320.1_Missense_Mutation_p.E1260D|TNC_ENST00000423613.2_Missense_Mutation_p.E1624D|TNC_ENST00000542877.1_Missense_Mutation_p.E1534D|TNC_ENST00000345230.3_Missense_Mutation_p.E1260D|TNC_ENST00000535648.1_Missense_Mutation_p.E1442D|TNC_ENST00000341037.4_Missense_Mutation_p.E1715D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1897	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1897D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCGACTGAACCTCAGTAGCAG	0.517																																						uc004bjj.3																			1	Substitution - Missense(1)	p.E1897K(1)	lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5689-5691)GAG>GAC		tenascin C precursor							79.0	78.0	78.0					9																	117797579		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797579C>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5691G>C	9.37:g.117797579C>G	ENSP00000265131:p.Glu1897Asp					TNC_uc010mvf.2_Missense_Mutation_p.E1624D	p.E1897D	NM_002160	NP_002151	P24821	TENA_HUMAN			22	6053	-			1897			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5691G>C	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.86|11.86	1.764485|1.764485	0.31228|0.31228	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.57273|.	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41|.	5.97|5.97	1.96|1.96	0.26148|0.26148	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.191551|.	0.56097|.	N|.	0.000030|.	T|T	0.33962|0.33962	0.0881|0.0881	N|N	0.25286|0.25286	0.73|0.73	0.28319|0.28319	N|N	0.922315|0.922315	P;B|.	0.50819|.	0.939;0.193|.	P;B|.	0.57720|.	0.826;0.208|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.06891|.	T|.	0.86|.	.|.	14.1386|14.1386	0.65303|0.65303	0.1109:0.4305:0.4586:0.0|0.1109:0.4305:0.4586:0.0	.|.	1624;1897|.	E9PC84;P24821|.	.;TENA_HUMAN|.	D|R	1533;1442;1351;1260;1897;969;1715;1624;1260;1534|460	ENSP00000344400:E1533D;ENSP00000438152:E1442D;ENSP00000344555:E1351D;ENSP00000345861:E1260D;ENSP00000265131:E1897D;ENSP00000339553:E1715D;ENSP00000411406:E1624D;ENSP00000443478:E1260D;ENSP00000442242:E1534D|.	ENSP00000344400:E1533D|.	E|G	-|-	3|1	2|0	TNC|TNC	116837400|116837400	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.919000|0.919000	0.55068|0.55068	0.586000|0.586000	0.23894|0.23894	0.089000|0.089000	0.17243|0.17243	0.655000|0.655000	0.94253|0.94253	GAG|GGT		PASS	0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		40	170	40	170	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117848712	117848712	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:117848712T>C	ENST00000350763.4	-	3	1709	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	TNC_ENST00000340094.3_Missense_Mutation_p.D433G|TNC_ENST00000346706.3_Missense_Mutation_p.D433G|TNC_ENST00000537320.1_Missense_Mutation_p.D433G|TNC_ENST00000423613.2_Missense_Mutation_p.D433G|TNC_ENST00000542877.1_Missense_Mutation_p.D433G|TNC_ENST00000345230.3_Missense_Mutation_p.D433G|TNC_ENST00000535648.1_Missense_Mutation_p.D433G|TNC_ENST00000341037.4_Missense_Mutation_p.D433G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	433	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.D433G(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGGCTGCAGTCCTCCCCAGT	0.587																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(1297-1299)GAC>GGC		tenascin C precursor							139.0	116.0	124.0					9																	117848712		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848712T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1298A>G	9.37:g.117848712T>C	ENSP00000265131:p.Asp433Gly					TNC_uc010mvf.2_Missense_Mutation_p.D433G	p.D433G	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1660	-			433			EGF-like 9.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1298A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125085	0.37533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11063	2.81;3.38;2.81;2.81;3.38;3.38;3.38;2.81;2.81	5.65	4.5	0.54988	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07309	-1.0779	10	0.87932	D	0	.	12.3986	0.55399	0.0:0.0:0.1408:0.8591	.	433;433	E9PC84;P24821	.;TENA_HUMAN	G	433	ENSP00000344400:D433G;ENSP00000438152:D433G;ENSP00000344555:D433G;ENSP00000345861:D433G;ENSP00000265131:D433G;ENSP00000339553:D433G;ENSP00000411406:D433G;ENSP00000443478:D433G;ENSP00000442242:D433G	ENSP00000344400:D433G	D	-	2	0	TNC	116888533	1.000000	0.71417	0.991000	0.47740	0.002000	0.02628	4.132000	0.57977	1.054000	0.40438	-0.460000	0.05396	GAC		PASS	0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	187	11	187	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131765730	131765730	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:131765730C>A	ENST00000372577.2	+	38	4452	c.4431C>A	c.(4429-4431)atC>atA	p.I1477I	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1477					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.I1477I(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCGTGATATCCAGGTGGGGG	0.567																																						uc004bws.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(4429-4431)ATC>ATA		nucleoporin 188kDa							80.0	78.0	79.0					9																	131765730		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765730C>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4431C>A	9.37:g.131765730C>A						NUP188_uc004bwu.2_Silent_p.I820I	p.I1477I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			38	4453	+			1477					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.4431C>A	CCDS35156.1																																																																																				PASS	0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			119	75	119	75	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134351441	134351441	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:134351441A>C	ENST00000357304.4	+	15	3980	c.3925A>C	c.(3925-3927)Aag>Cag	p.K1309Q	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1309							poly(A) RNA binding (GO:0044822)	p.K1309Q(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACGCCAAGATAAGCCCCCTCG	0.642											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004can.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3925-3927)AAG>CAG		HLA-B associated transcript 2-like							51.0	60.0	57.0					9																	134351441		1894	4115	6009	SO:0001583	missense	84726						protein binding	g.chr9:134351441A>C	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3925A>C	9.37:g.134351441A>C	ENSP00000349856:p.Lys1309Gln		OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	BAT2L1_uc010mzj.1_Missense_Mutation_p.K892Q|BAT2L1_uc004cao.3_Missense_Mutation_p.K667Q	p.K1309Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	3980	+			1309					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3925A>C	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.009605|4.009605	0.75046|0.75046	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000357304;ENST00000418650|ENST00000451855	T|.	0.10288|.	2.89|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	T|.	0.74550|.	0.3731|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|.	0.75121|.	-0.3429|.	9|.	0.52906|.	T|.	0.07|.	.|.	15.0673|15.0673	0.72005|0.72005	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	605;42;1309|.	Q5H9R5;Q5JSZ8;Q5JSZ5|.	.;.;PRC2B_HUMAN|.	Q|S	1309;605|42	ENSP00000349856:K1309Q|.	ENSP00000349856:K1309Q|.	K|X	+|+	1|2	0|2	PRRC2B|PRRC2B	133341262|133341262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.775000|0.775000	0.43874|0.43874	8.905000|8.905000	0.92613|0.92613	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	AAG|TAA		PASS	0.642	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	110	20	110	---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135553825	135553825	+	Silent	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:135553825T>C	ENST00000372146.4	+	2	1383	c.819T>C	c.(817-819)agT>agC	p.S273S	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	273					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.S273S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGTTGGCAGTGTGCTCCTGG	0.517																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(817-819)AGT>AGC		general transcription factor IIIC 4							133.0	126.0	128.0					9																	135553825		2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553825T>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.819T>C	9.37:g.135553825T>C						GTF3C4_uc010mzw.2_RNA	p.S273S	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1077	+			273					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.819T>C	CCDS6953.1																																																																																				PASS	0.517	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			191	71	191	71	---	---	---	---
UBAC1	10422	broad.mit.edu	37	9	138831596	138831596	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:138831596A>C	ENST00000371756.3	-	8	1103	c.886T>G	c.(886-888)Tcc>Gcc	p.S296A	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	296	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.S296A(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCCATCAGGGAAATGACGGCC	0.622																																					NSCLC(78;973 1398 27381 29552 42415)	uc004cgt.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(886-888)TCC>GCC		ubiquitin associated domain containing 1							233.0	190.0	205.0					9																	138831596		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138831596A>C	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.886T>G	9.37:g.138831596A>C	ENSP00000360821:p.Ser296Ala					UBAC1_uc004cgs.1_Missense_Mutation_p.S296A|UBAC1_uc004cgu.2_RNA	p.S296A	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	8	1104	-		Myeloproliferative disorder(178;0.0511)	296			UBA 2.		O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.886T>G	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	A	7.512	0.654954	0.14580	.	.	ENSG00000130560	ENST00000371756	T	0.21734	1.99	5.01	3.91	0.45181	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.051080	0.85682	D	0.000000	T	0.14442	0.0349	L	0.32530	0.975	0.45515	D	0.998476	B	0.02656	0.0	B	0.08055	0.003	T	0.07501	-1.0769	10	0.21540	T	0.41	-23.4188	9.5837	0.39504	0.5872:0.4128:0.0:0.0	.	296	Q9BSL1	UBAC1_HUMAN	A	296	ENSP00000360821:S296A	ENSP00000360821:S296A	S	-	1	0	UBAC1	137971417	1.000000	0.71417	0.930000	0.37139	0.119000	0.20118	3.808000	0.55598	1.893000	0.54813	0.459000	0.35465	TCC		PASS	0.622	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		12	178	12	178	---	---	---	---
CARD9	64170	broad.mit.edu	37	9	139270830	139270830	+	5'Flank	SNP	C	C	T	rs201999899		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr9:139270830C>T	ENST00000371732.5	-	0	0				CARD9_ENST00000371734.3_5'Flank|SNAPC4_ENST00000298532.2_Missense_Mutation_p.R1463Q|CARD9_ENST00000315908.7_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9						defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|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 stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.R1463Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTCCGCTTCCGGGTGTGCCT	0.632																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4387-4389)CGG>CAG		small nuclear RNA activating complex,		C	GLN/ARG	0,4406		0,0,2203	111.0	106.0	108.0		4388	2.8	0.0	9		108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAPC4	NM_003086.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1463/1470	139270830	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139270830C>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925		9.37:g.139270830C>T	Exception_encountered					CARD9_uc004chg.3_5'Flank|CARD9_uc011mdw.1_5'Flank|CARD9_uc011mdx.1_5'Flank|CARD9_uc010nbj.2_5'Flank	p.R1463Q	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	22	4397	-		Myeloproliferative disorder(178;0.0511)	1463					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.4388G>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439651	0.43326	0.0	1.16E-4	ENSG00000165684	ENST00000298532	T	0.54479	0.57	3.69	2.79	0.32731	.	.	.	.	.	T	0.51432	0.1674	L	0.34521	1.04	0.09310	N	1	D	0.71674	0.998	P	0.55508	0.777	T	0.36672	-0.9738	9	0.87932	D	0	-27.3889	6.8433	0.23975	0.0:0.8697:0.0:0.1303	.	1463	Q5SXM2	SNPC4_HUMAN	Q	1463	ENSP00000298532:R1463Q	ENSP00000298532:R1463Q	R	-	2	0	SNAPC4	138390651	0.021000	0.18746	0.016000	0.15963	0.093000	0.18481	0.299000	0.19138	0.761000	0.33130	0.511000	0.50034	CGG		PASS	0.632	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		97	126	97	126	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33208813	33208813	+	Splice_Site	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:33208813C>T	ENST00000396033.2	-	11	1604	c.1469G>A	c.(1468-1470)aGg>aAg	p.R490K	ITGB1_ENST00000302278.3_Splice_Site_p.R490K|ITGB1_ENST00000423113.1_Splice_Site_p.R490K|ITGB1_ENST00000374956.4_Splice_Site_p.R490K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	490	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.R490K(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CCCAGCTTACCTGCACGCGCC	0.453																																						uc001iws.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1468-1470)AGG>AAG		integrin beta 1 isoform 1A precursor							93.0	79.0	84.0					10																	33208813		2203	4300	6503	SO:0001630	splice_region_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208813C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1469+1G>A	10.37:g.33208813C>T						ITGB1_uc001iwp.3_Missense_Mutation_p.R490K|ITGB1_uc001iwq.3_Missense_Mutation_p.R490K|ITGB1_uc001iwr.3_Missense_Mutation_p.R490K|ITGB1_uc001iwt.3_Missense_Mutation_p.R490K|ITGB1_uc001iwu.1_Missense_Mutation_p.R490K	p.R490K	NM_133376	NP_596867	P05556	ITB1_HUMAN			11	1605	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	490			Extracellular (Potential).|I.|Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1469G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667438	0.47677	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.99	4.99	0.66335	.	0.137751	0.64402	N	0.000003	T	0.49184	0.1542	N	0.17631	0.505	0.58432	D	0.999997	B;B;B;B;B	0.27559	0.014;0.008;0.008;0.181;0.014	B;B;B;B;B	0.28305	0.034;0.015;0.036;0.088;0.027	T	0.41910	-0.9482	9	.	.	.	.	18.6414	0.91397	0.0:1.0:0.0:0.0	.	490;490;490;490;490	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	490	ENSP00000379350:R490K;ENSP00000388694:R490K;ENSP00000303351:R490K;ENSP00000364094:R490K	.	R	-	2	0	ITGB1	33248819	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.082000	0.50128	2.469000	0.83416	0.460000	0.39030	AGG		PASS	0.453	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	Missense_Mutation	8	189	8	189	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52587900	52587900	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:52587900T>A	ENST00000373993.1	-	5	804	c.760A>T	c.(760-762)Atc>Ttc	p.I254F	A1CF_ENST00000373995.3_Missense_Mutation_p.I262F|A1CF_ENST00000395489.2_Missense_Mutation_p.I247F|A1CF_ENST00000373997.3_Missense_Mutation_p.I254F|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.2_Missense_Mutation_p.I254F|A1CF_ENST00000282641.2_Missense_Mutation_p.I254F|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.I254F(1)|p.I262F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGTTTGATATTGTTGAAT	0.343																																						uc001jjj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(760-762)ATC>TTC		apobec-1 complementation factor isoform 2							119.0	117.0	118.0					10																	52587900		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52587900T>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.760A>T	10.37:g.52587900T>A	ENSP00000363105:p.Ile254Phe					A1CF_uc010qhn.1_Missense_Mutation_p.I262F|A1CF_uc001jji.2_Missense_Mutation_p.I254F|A1CF_uc001jjh.2_Missense_Mutation_p.I262F|A1CF_uc010qho.1_Missense_Mutation_p.I262F|A1CF_uc009xov.2_Missense_Mutation_p.I254F	p.I254F	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			7	948	-			254			RRM 3.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.760A>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	2.509	-0.313380	0.05422	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.48	3.08	0.35506	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.281576	0.39475	N	0.001360	T	0.24275	0.0588	N	0.00811	-1.165	0.53005	D	0.99996	B;B;B;B	0.34015	0.0;0.002;0.435;0.0	B;B;B;B	0.25140	0.001;0.008;0.058;0.002	T	0.40515	-0.9559	10	0.02654	T	1	.	7.2632	0.26216	0.0:0.2547:0.0:0.7453	.	247;254;254;262	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	F	254;254;254;262;254;237;247	ENSP00000363113:I254F;ENSP00000363105:I254F;ENSP00000363109:I254F;ENSP00000363107:I262F;ENSP00000282641:I254F;ENSP00000378868:I247F	ENSP00000282641:I254F	I	-	1	0	A1CF	52257906	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	3.195000	0.51013	0.352000	0.24053	0.460000	0.39030	ATC		PASS	0.343	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		8	85	8	85	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63191022	63191022	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:63191022C>G	ENST00000399298.3	-	3	707	c.339G>C	c.(337-339)ttG>ttC	p.L113F	TMEM26_ENST00000399293.1_Missense_Mutation_p.L113F	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	113						integral component of membrane (GO:0016021)		p.L113F(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CATTGGATGTCAATGTTTGAT	0.408																																						uc001jlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)TTG>TTC		transmembrane protein 26							253.0	233.0	239.0					10																	63191022		1884	4123	6007	SO:0001583	missense	219623					integral to membrane		g.chr10:63191022C>G	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.339G>C	10.37:g.63191022C>G	ENSP00000382237:p.Leu113Phe					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	p.L113F	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			3	708	-	Prostate(12;0.0112)		113					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.339G>C	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042816	0.36085	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.46	1.53	0.23141	.	0.838876	0.10804	N	0.632378	T	0.50103	0.1596	L	0.59436	1.845	0.09310	N	1	P	0.51791	0.948	P	0.55455	0.776	T	0.33675	-0.9859	9	0.56958	D	0.05	-24.7776	7.3622	0.26752	0.0:0.6588:0.0:0.3412	.	113	Q6ZUK4	TMM26_HUMAN	F	113;23;113	.	ENSP00000277749:L23F	L	-	3	2	TMEM26	62861028	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.165000	0.09968	0.689000	0.31550	0.650000	0.86243	TTG		PASS	0.408	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		19	101	19	101	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63816878	63816878	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:63816878G>A	ENST00000279873.7	+	6	1259	c.849G>A	c.(847-849)gtG>gtA	p.V283V	ARID5B_ENST00000309334.5_Silent_p.V40V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	283					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.V283V(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TTTTCCAGGTGAAATGTGAGG	0.448																																						uc001jlt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(847-849)GTG>GTA		AT rich interactive domain 5B (MRF1-like)							42.0	42.0	42.0					10																	63816878		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63816878G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.849G>A	10.37:g.63816878G>A						ARID5B_uc001jlu.1_Silent_p.V40V	p.V283V	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			6	875	+	Prostate(12;0.016)|all_hematologic(501;0.215)		283					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.849G>A	CCDS31208.1																																																																																				PASS	0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		27	32	27	32	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69925552	69925552	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:69925552G>T	ENST00000358913.5	+	9	2065	c.1577G>T	c.(1576-1578)aGc>aTc	p.S526I	MYPN_ENST00000540630.1_Missense_Mutation_p.S526I|MYPN_ENST00000354393.2_Missense_Mutation_p.S251I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	526	Ig-like 2.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S526I(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACAGTGTCAAGCATTGCACAG	0.433																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1576-1578)AGC>ATC		myopalladin							167.0	135.0	146.0					10																	69925552		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69925552G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1577G>T	10.37:g.69925552G>T	ENSP00000351790:p.Ser526Ile					MYPN_uc001jnl.1_Missense_Mutation_p.S526I|MYPN_uc001jnn.3_Missense_Mutation_p.S251I|MYPN_uc001jno.3_Missense_Mutation_p.S526I|MYPN_uc009xps.2_Missense_Mutation_p.S526I|MYPN_uc009xpt.2_Missense_Mutation_p.S526I|MYPN_uc010qit.1_Missense_Mutation_p.S232I|MYPN_uc010qiu.1_RNA	p.S526I	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			10	1762	+			526			Ig-like 2.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1577G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330300	0.81690	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.68331	-0.32;-0.32;-0.32	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.82358	-0.0497	9	.	.	.	.	18.8163	0.92077	0.0:0.0:1.0:0.0	.	526;251;526	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	I	251;251;526;526	ENSP00000346369:S251I;ENSP00000351790:S526I;ENSP00000441668:S526I	.	S	+	2	0	MYPN	69595558	1.000000	0.71417	0.984000	0.44739	0.596000	0.36781	9.434000	0.97515	2.431000	0.82371	0.561000	0.74099	AGC		PASS	0.433	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		85	50	85	50	---	---	---	---
CHST3	9469	broad.mit.edu	37	10	73765698	73765698	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:73765698T>C	ENST00000373115.4	+	2	535	c.98T>C	c.(97-99)aTa>aCa	p.I33T		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	33					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)	p.I33T(1)		endometrium(1)|lung(5)	6						TTTGTGGTGATAGTTTTTGTC	0.473																																						uc001jsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ATA>ACA		chondroitin 6-sulfotransferase 3							208.0	189.0	195.0					10																	73765698		2203	4300	6503	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73765698T>C	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.98T>C	10.37:g.73765698T>C	ENSP00000362207:p.Ile33Thr						p.I33T	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN			2	538	+			33			Helical; Signal-anchor for type II membrane protein; (Potential).		O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.98T>C	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261003	0.39995	.	.	ENSG00000122863	ENST00000373115	D	0.96522	-4.04	5.66	5.66	0.87406	.	0.310219	0.29868	N	0.010995	D	0.91865	0.7425	N	0.22421	0.69	0.21325	N	0.999724	B	0.12630	0.006	B	0.11329	0.006	D	0.84854	0.0815	10	0.66056	D	0.02	-10.2794	10.2695	0.43475	0.0:0.0:0.1792:0.8208	.	33	Q7LGC8	CHST3_HUMAN	T	33	ENSP00000362207:I33T	ENSP00000362207:I33T	I	+	2	0	CHST3	73435704	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.482000	0.81143	2.160000	0.67779	0.533000	0.62120	ATA		PASS	0.473	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		76	76	76	76	---	---	---	---
CHST3	9469	broad.mit.edu	37	10	73765715	73765715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:73765715G>T	ENST00000373115.4	+	2	552	c.115G>T	c.(115-117)Gaa>Taa	p.E39*		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)	p.E39*(1)		endometrium(1)|lung(5)	6						TGTCTTCATCGAAAAGGAAAA	0.483																																						uc001jsn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(115-117)GAA>TAA		chondroitin 6-sulfotransferase 3							175.0	162.0	166.0					10																	73765715		2203	4300	6503	SO:0001587	stop_gained	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73765715G>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.115G>T	10.37:g.73765715G>T	ENSP00000362207:p.Glu39*						p.E39*	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN			2	555	+			39			Lumenal (Potential).		O75099|Q52M30	Nonsense_Mutation	SNP	ENST00000373115.4	37	c.115G>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	40	8.310891	0.98754	.	.	ENSG00000122863	ENST00000373115	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4067	18.7265	0.91716	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000362207:E39X	E	+	1	0	CHST3	73435721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.209000	0.95087	2.675000	0.91044	0.655000	0.94253	GAA		PASS	0.483	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		75	71	75	71	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104140418	104140418	+	Silent	SNP	A	A	G	rs386747095		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:104140418A>G	ENST00000369983.3	+	38	5405	c.5145A>G	c.(5143-5145)gaA>gaG	p.E1715E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1715					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1715E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TACGAGATGAACTCTTCAAGC	0.562																																						uc001kux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5143-5145)GAA>GAG		golgi-specific brefeldin A resistant guanine							204.0	224.0	217.0					10																	104140418		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140418A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5145A>G	10.37:g.104140418A>G						GBF1_uc001kuy.1_Silent_p.E1711E|GBF1_uc001kuz.1_Silent_p.E1712E	p.E1715E	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5385	+		Colorectal(252;0.0236)	1715					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.5145A>G	CCDS7533.1																																																																																				PASS	0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			156	425	156	425	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106163575	106163575	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:106163575G>C	ENST00000369704.3	+	14	2262	c.2128G>C	c.(2128-2130)Gtg>Ctg	p.V710L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		710						extracellular space (GO:0005615)		p.V710L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCCCCTGAATGTGCACAGATG	0.512																																						uc001kyh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2128-2130)GTG>CTG		coiled-coil domain containing 147							70.0	71.0	70.0					10																	106163575		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106163575G>C																												ENST00000369704.3:c.2128G>C	10.37:g.106163575G>C	ENSP00000358718:p.Val710Leu						p.V710L	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	14	2262	+		Colorectal(252;0.103)|Breast(234;0.122)	710			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2128G>C	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145484	0.57044	.	.	ENSG00000120051	ENST00000369704	T	0.49432	0.78	5.5	4.58	0.56647	.	0.123185	0.56097	D	0.000026	T	0.53061	0.1773	M	0.81497	2.545	0.80722	D	1	B	0.26120	0.142	B	0.33750	0.169	T	0.51818	-0.8657	10	0.30854	T	0.27	-25.4495	13.5316	0.61625	0.076:0.0:0.924:0.0	.	710	Q5T655	CC147_HUMAN	L	710	ENSP00000358718:V710L	ENSP00000358718:V710L	V	+	1	0	CCDC147	106153565	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	3.576000	0.53878	2.735000	0.93741	0.655000	0.94253	GTG		PASS	0.512	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			11	26	11	26	---	---	---	---
CASP7	840	broad.mit.edu	37	10	115486075	115486075	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:115486075G>C	ENST00000345633.4	+	7	948	c.564G>C	c.(562-564)ggG>ggC	p.G188G	CASP7_ENST00000452490.2_Silent_p.G163G|CASP7_ENST00000369331.4_Missense_Mutation_p.G177A|CASP7_ENST00000369321.2_Silent_p.G221G|CASP7_ENST00000369318.3_Silent_p.G188G|CASP7_ENST00000369315.1_Silent_p.G188G	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	188					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.G221G(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CTTGCCGAGGGACCGAGCTTG	0.502																																						uc001lan.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)GGG>GGC		caspase 7 isoform alpha							173.0	137.0	149.0					10																	115486075		2203	4300	6503	SO:0001819	synonymous_variant	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115486075G>C	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.564G>C	10.37:g.115486075G>C						CASP7_uc001lam.2_Missense_Mutation_p.G177A|CASP7_uc001lao.2_Silent_p.G221G|CASP7_uc001lap.2_Silent_p.G188G|CASP7_uc001laq.2_Silent_p.G188G|CASP7_uc010qsa.1_Silent_p.G273G|CASP7_uc010qsb.1_Silent_p.G163G	p.G188G	NM_033339	NP_203125	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	738	+		Colorectal(252;0.0946)|Breast(234;0.188)	188					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	ENST00000345633.4	37	c.564G>C	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	G	9.871	1.199047	0.22121	.	.	ENSG00000165806	ENST00000369331	T	0.06294	3.32	5.44	-2.11	0.07187	.	0.044322	0.85682	D	0.000000	T	0.03871	0.0109	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.16722	0.016	T	0.42632	-0.9440	9	0.72032	D	0.01	.	0.526	0.00620	0.2794:0.1869:0.3118:0.222	.	177	P55210-2	.	A	177	ENSP00000358337:G177A	ENSP00000358337:G177A	G	+	2	0	CASP7	115476065	0.014000	0.17966	0.738000	0.30950	0.521000	0.34408	-0.678000	0.05209	-0.224000	0.09928	0.563000	0.77884	GGA		PASS	0.502	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		27	109	27	109	---	---	---	---
BTBD16	118663	broad.mit.edu	37	10	124096123	124096123	+	Missense_Mutation	SNP	G	G	C	rs184112208	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr10:124096123G>C	ENST00000260723.4	+	15	1629	c.1378G>C	c.(1378-1380)Ggc>Cgc	p.G460R	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Missense_Mutation_p.G461R	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	460								p.G460R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTGGTTGACGGCAAGTGGCA	0.542																																						uc001lgc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1378-1380)GGC>CGC		BTB (POZ) domain containing 16							132.0	99.0	110.0					10																	124096123		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124096123G>C	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1378G>C	10.37:g.124096123G>C	ENSP00000260723:p.Gly460Arg					BTBD16_uc001lgd.1_Missense_Mutation_p.G459R	p.G460R	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			15	1629	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	460					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1378G>C	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567724	0.28003	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.26957	1.7;1.7	5.64	2.85	0.33270	.	0.000000	0.64402	D	0.000004	T	0.34687	0.0906	L	0.34521	1.04	0.09310	N	0.999993	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.08310	-1.0728	10	0.66056	D	0.02	-25.6845	9.054	0.36394	0.2037:0.0:0.7963:0.0	.	461;460	Q32M84-2;Q32M84	.;BTBDG_HUMAN	R	460;461	ENSP00000260723:G460R;ENSP00000357990:G461R	ENSP00000260723:G460R	G	+	1	0	BTBD16	124086113	0.805000	0.28982	0.016000	0.15963	0.036000	0.12997	1.273000	0.33121	0.356000	0.24157	-0.782000	0.03352	GGC		PASS	0.542	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		9	43	9	43	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)GGT>GTT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA	p.G13V	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	226	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		PASS	0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		15	37	15	37	---	---	---	---
KRTAP5-6	440023	broad.mit.edu	37	11	1718688	1718688	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:1718688C>A	ENST00000382160.1	+	1	264	c.213C>A	c.(211-213)ggC>ggA	p.G71G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	71	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G71G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGCTGTGGCTCTTGTGGGG	0.632																																						uc001lua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)GGC>GGA		keratin associated protein 5-6							82.0	105.0	97.0					11																	1718688		2202	4299	6501	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718688C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.213C>A	11.37:g.1718688C>A							p.G71G	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	264	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	71			6 X 4 AA repeats of C-C-X-P.		A1L452	Silent	SNP	ENST00000382160.1	37	c.213C>A	CCDS31332.1																																																																																				PASS	0.632	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			51	92	51	92	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068595	5068595	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:5068595C>A	ENST00000380370.1	+	1	840	c.840C>A	c.(838-840)ctC>ctA	p.L280L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L280L(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCCAATCTCTATTTGATTA	0.393																																						uc010qyv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(838-840)CTC>CTA		olfactory receptor, family 52, subfamily J,							147.0	133.0	138.0					11																	5068595		2201	4298	6499	SO:0001819	synonymous_variant	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068595C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.840C>A	11.37:g.5068595C>A							p.L280L	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	840	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	280			Helical; Name=7; (Potential).		Q6IFE4	Silent	SNP	ENST00000380370.1	37	c.840C>A	CCDS31370.1																																																																																				PASS	0.393	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		52	166	52	166	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153381	5153381	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:5153381G>T	ENST00000307388.1	-	1	491	c.492C>A	c.(490-492)ctC>ctA	p.L164L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	164					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCATTTGATGAGCCCTAAGG	0.463																																						uc010qyx.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(490-492)CTC>CTA		olfactory receptor, family 52, subfamily A,							109.0	105.0	106.0					11																	5153381		2201	4298	6499	SO:0001819	synonymous_variant	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153381G>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.492C>A	11.37:g.5153381G>T							p.L164L	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	492	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	164			Extracellular (Potential).			Silent	SNP	ENST00000307388.1	37	c.492C>A	CCDS31373.1																																																																																				PASS	0.463	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		34	103	34	103	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5686040	5686040	+	Nonstop_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:5686040C>G	ENST00000380034.3	-	8	1737	c.1481G>C	c.(1480-1482)tGa>tCa	p.*494S	TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000305836.5_Nonstop_Mutation_p.*494S|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.*494S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TAAGAAGGTTCAAGAGCTTGG	0.413																																						uc001mbm.1																			2	Nonstop extension(2)		lung(2)	ovary(1)	1						c.(1480-1482)TGA>TCA		tripartite motif protein TRIM5 isoform alpha							110.0	101.0	104.0					11																	5686040		2201	4297	6498	SO:0001578	stop_lost	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686040C>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1481G>C	11.37:g.5686040C>G						TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron	p.*494S	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1738	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	494					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Nonstop_Mutation	SNP	ENST00000380034.3	37	c.1481G>C	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	1.077	-0.668067	0.03428	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	.	.	.	4.08	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.199	0.31413	0.0:0.3691:0.0:0.6309	.	.	.	.	S	494	.	.	X	-	2	2	TRIM5	5642616	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.158000	0.10070	-0.322000	0.08615	-0.345000	0.07892	TGA		PASS	0.413	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		23	74	23	74	---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6479499	6479499	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:6479499C>G	ENST00000525074.1	-	3	553	c.159G>C	c.(157-159)caG>caC	p.Q53H	TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000359518.3_Missense_Mutation_p.Q53H|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.Q53H|TRIM3_ENST00000345851.3_Missense_Mutation_p.Q53H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	53					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q53H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGTCAGGCTCTGGGCAGGGA	0.547																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(157-159)CAG>CAC		tripartite motif-containing 3							62.0	65.0	64.0					11																	6479499		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479499C>G	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.159G>C	11.37:g.6479499C>G	ENSP00000433102:p.Gln53His					TRIM3_uc001mdi.2_Missense_Mutation_p.Q53H|TRIM3_uc010raj.1_5'UTR|TRIM3_uc009yfd.2_Missense_Mutation_p.Q53H|TRIM3_uc010rak.1_Missense_Mutation_p.Q53H|TRIM3_uc001mdj.2_5'UTR	p.Q53H	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	546	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	53			RING-type.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.159G>C	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	5.387	0.256632	0.10185	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000528227;ENST00000529529	T;T;T;T;T;T	0.74737	-0.69;-0.69;-0.87;-0.69;0.87;1.65	4.92	4.0	0.46444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	N	0.16016	0.355	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.50303	-0.8844	10	0.29301	T	0.29	-17.4225	8.2094	0.31476	0.0:0.7568:0.1561:0.0871	.	53	O75382	TRIM3_HUMAN	H	53	ENSP00000433102:Q53H;ENSP00000340797:Q53H;ENSP00000441091:Q53H;ENSP00000352508:Q53H;ENSP00000433070:Q53H;ENSP00000437283:Q53H	ENSP00000337094:Q53H	Q	-	3	2	TRIM3	6436075	0.996000	0.38824	1.000000	0.80357	0.956000	0.61745	0.527000	0.22987	2.268000	0.75426	0.561000	0.74099	CAG		PASS	0.547	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		30	71	30	71	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6640070	6640070	+	IGR	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:6640070G>T	ENST00000299441.3	-	0	10763				RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000299427.6_Missense_Mutation_p.Q56K|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q56K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCACATTCTGCTGTCTCAGG	0.617																																						uc001mel.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAG>AAG		tripeptidyl-peptidase I preproprotein							81.0	72.0	75.0					11																	6640070		2201	4296	6497	SO:0001628	intergenic_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6640070G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640070G>T						TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.Q56K	p.Q56K	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	3	227	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	56					O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.166C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624994	0.66901	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.68479	-0.33;-0.33	5.64	4.72	0.59763	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.284255	0.35838	N	0.002951	T	0.62660	0.2446	M	0.67953	2.075	0.80722	D	1	B;B	0.22851	0.076;0.039	B;B	0.25987	0.065;0.013	T	0.57294	-0.7836	10	0.12103	T	0.63	-25.4224	12.9824	0.58572	0.0:0.0:0.8381:0.1619	.	56;56	B4DEQ3;O14773	.;TPP1_HUMAN	K	56	ENSP00000299427:Q56K;ENSP00000398136:Q56K	ENSP00000299427:Q56K	Q	-	1	0	TPP1	6596646	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.244000	0.58728	1.358000	0.45922	0.462000	0.41574	CAG		PASS	0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		39	90	39	90	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30928170	30928170	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:30928170C>T	ENST00000597505.1	-	28	4020	c.4021G>A	c.(4021-4023)Ggg>Agg	p.G1341R	DCDC1_ENST00000339794.5_Missense_Mutation_p.G420R|DCDC1_ENST00000406071.2_Missense_Mutation_p.G76R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.G28R(1)|p.G420R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATGGAACCCCTGGAAGCAAT	0.453																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							135.0	125.0	128.0					11																	30928170		2202	4299	6501	SO:0001583	missense	0							g.chr11:30928170C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4021G>A	11.37:g.30928170C>T	ENSP00000472625:p.Gly1341Arg					uc009yjk.1_Missense_Mutation_p.G789R|uc009yjj.1_RNA								8		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1124G>A		.	.	.	.	.	.	.	.	.	.	C	13.22	2.172170	0.38315	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.64	3.73	0.42828	.	0.294098	0.29369	N	0.012348	T	0.23370	0.0565	L	0.43923	1.385	0.26031	N	0.981734	P	0.35050	0.482	B	0.30029	0.11	T	0.12708	-1.0537	9	0.08381	T	0.77	-9.1785	9.4319	0.38615	0.0:0.8265:0.0:0.1735	.	420	Q6ZRR9	DCDC5_HUMAN	R	76;420	.	ENSP00000341700:G420R	G	-	1	0	DCDC5	30884746	0.854000	0.29725	0.992000	0.48379	0.096000	0.18686	1.322000	0.33689	1.357000	0.45904	0.650000	0.86243	GGG		PASS	0.453	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		15	42	15	42	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45246120	45246120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:45246120G>A	ENST00000530656.1	+	7	1197	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	PRDM11_ENST00000424263.2_Nonsense_Mutation_p.W365*|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Nonsense_Mutation_p.W399*|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	399							methyltransferase activity (GO:0008168)	p.W399*(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGGGGACTGGAAGGTCCCCC	0.577																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1195-1197)TGG>TGA		PR domain containing 11							64.0	75.0	71.0					11																	45246120		2203	4299	6502	SO:0001587	stop_gained	56981							g.chr11:45246120G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1197G>A	11.37:g.45246120G>A	ENSP00000435976:p.Trp399*						p.W399*	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			8	1446	+			399					Q8N9F1	Nonsense_Mutation	SNP	ENST00000530656.1	37	c.1197G>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.961652	0.92791	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	.	.	.	5.51	5.51	0.81932	.	0.104206	0.44097	D	0.000490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4341	19.4918	0.95052	0.0:0.0:1.0:0.0	.	.	.	.	X	399;399;365	.	ENSP00000263765:W399X	W	+	3	0	PRDM11	45202696	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.220000	0.78008	2.616000	0.88540	0.558000	0.71614	TGG		PASS	0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		71	123	71	123	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411845	51411845	+	Missense_Mutation	SNP	A	A	C	rs527363881		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:51411845A>C	ENST00000319760.6	-	1	603	c.551T>G	c.(550-552)cTg>cGg	p.L184R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGTGCATGCCAGTTCCAGTAA	0.418																																						uc001nhi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(550-552)CTG>CGG		olfactory receptor, family 4, subfamily A,							64.0	55.0	58.0					11																	51411845		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411845A>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.551T>G	11.37:g.51411845A>C	ENSP00000367664:p.Leu184Arg						p.L184R	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	551	-		all_lung(304;0.236)	184			Extracellular (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.551T>G	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	7.683	0.689477	0.14973	.	.	ENSG00000221840	ENST00000319760	T	0.00411	7.53	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000674	T	0.02156	0.0067	H	0.99590	4.645	0.09310	N	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.26744	-1.0094	10	0.87932	D	0	.	7.8263	0.29318	1.0:0.0:0.0:0.0	.	184	Q8NH83	OR4A5_HUMAN	R	184	ENSP00000367664:L184R	ENSP00000367664:L184R	L	-	2	0	OR4A5	51268421	0.601000	0.26907	0.332000	0.25469	0.019000	0.09904	5.550000	0.67268	1.143000	0.42306	0.136000	0.15936	CTG		PASS	0.418	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		24	43	24	43	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595463	55595463	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:55595463T>C	ENST00000378397.1	+	1	769	c.769T>C	c.(769-771)Tac>Cac	p.Y257H		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y257H(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AACAATCCTTTACATTTATTG	0.502										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)TAC>CAC		olfactory receptor, family 5, subfamily L,							124.0	112.0	116.0					11																	55595463		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595463T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.769T>C	11.37:g.55595463T>C	ENSP00000367650:p.Tyr257His	HNSCC(27;0.073)					p.Y257H	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	769	+		all_epithelial(135;0.208)	257			Helical; Name=6; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.769T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	8.936	0.964669	0.18583	.	.	ENSG00000205030	ENST00000378397	T	0.00123	8.7	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.367908	0.23539	N	0.047098	T	0.00178	0.0005	M	0.64170	1.965	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.36163	-0.9759	10	0.87932	D	0	-40.6186	9.4921	0.38967	0.1577:0.0:0.0:0.8423	.	257	Q8NGL0	OR5L2_HUMAN	H	257	ENSP00000367650:Y257H	ENSP00000367650:Y257H	Y	+	1	0	OR5L2	55352039	0.000000	0.05858	0.975000	0.42487	0.010000	0.07245	0.413000	0.21148	2.061000	0.61500	0.439000	0.28862	TAC		PASS	0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		36	123	36	123	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595507	55595507	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:55595507C>A	ENST00000378397.1	+	1	813	c.813C>A	c.(811-813)gaC>gaA	p.D271E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D271E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAGATGTTGACAAAGTGGCCA	0.488										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GAC>GAA		olfactory receptor, family 5, subfamily L,							91.0	83.0	86.0					11																	55595507		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595507C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.813C>A	11.37:g.55595507C>A	ENSP00000367650:p.Asp271Glu	HNSCC(27;0.073)					p.D271E	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	813	+		all_epithelial(135;0.208)	271			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.813C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295645	0.23564	.	.	ENSG00000205030	ENST00000378397	T	0.00227	8.5	5.1	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	0.111311	0.40144	N	0.001171	T	0.00178	0.0005	M	0.68593	2.085	0.09310	N	1	B	0.22541	0.071	B	0.30782	0.12	T	0.47799	-0.9089	10	0.44086	T	0.13	-29.9048	1.4931	0.02461	0.1335:0.3507:0.2642:0.2517	.	271	Q8NGL0	OR5L2_HUMAN	E	271	ENSP00000367650:D271E	ENSP00000367650:D271E	D	+	3	2	OR5L2	55352083	0.305000	0.24481	0.534000	0.28014	0.426000	0.31534	-0.229000	0.09098	-0.034000	0.13713	0.536000	0.68110	GAC		PASS	0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		23	87	23	87	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043883	56043883	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:56043883C>A	ENST00000313033.2	+	1	855	c.769C>A	c.(769-771)Cta>Ata	p.L257I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L257I(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGAGCTCACCTAACTGGAGT	0.423																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(769-771)CTA>ATA		olfactory receptor, family 5, subfamily T,							242.0	210.0	221.0					11																	56043883		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043883C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.769C>A	11.37:g.56043883C>A	ENSP00000323612:p.Leu257Ile						p.L257I	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	769	+	Esophageal squamous(21;0.00448)		257			Helical; Name=6; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.769C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028868	0.54790	.	.	ENSG00000181698	ENST00000313033	T	0.43294	0.95	3.48	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	N	0.001879	T	0.56920	0.2018	M	0.70903	2.155	0.22737	N	0.998794	D	0.67145	0.996	D	0.71414	0.973	T	0.47368	-0.9123	10	0.72032	D	0.01	.	8.4442	0.32833	0.0:0.7974:0.0:0.2026	.	257	Q8NG75	OR5T1_HUMAN	I	257	ENSP00000323612:L257I	ENSP00000323612:L257I	L	+	1	2	OR5T1	55800459	0.046000	0.20272	0.196000	0.23383	0.795000	0.44927	0.411000	0.21115	0.287000	0.22375	0.465000	0.42564	CTA		PASS	0.423	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		68	310	68	310	---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60271261	60271261	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:60271261G>C	ENST00000016913.4	+	5	616	c.559G>C	c.(559-561)Ggg>Cgg	p.G187R	MS4A12_ENST00000537076.1_Missense_Mutation_p.G141R	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	187						integral component of membrane (GO:0016021)		p.G187R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GTGCATCAATGGGGTAGCTGG	0.473																																						uc001npr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GGG>CGG		membrane-spanning 4-domains, subfamily A, member							175.0	150.0	158.0					11																	60271261		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60271261G>C	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.559G>C	11.37:g.60271261G>C	ENSP00000016913:p.Gly187Arg						p.G187R	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			5	616	+			187			Extracellular (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.559G>C	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620859	0.46736	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02140	4.43;4.43;4.43	4.84	3.92	0.45320	.	0.867464	0.10155	N	0.709096	T	0.06371	0.0164	L	0.39514	1.22	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.40194	-0.9576	10	0.13108	T	0.6	-0.8352	8.9258	0.35639	0.1013:0.0:0.8987:0.0	.	187	Q9NXJ0	M4A12_HUMAN	R	141;141;187	ENSP00000440424:G141R;ENSP00000431959:G141R;ENSP00000016913:G187R	ENSP00000016913:G187R	G	+	1	0	MS4A12	60027837	0.009000	0.17119	0.014000	0.15608	0.005000	0.04900	0.458000	0.21892	1.365000	0.46057	0.655000	0.94253	GGG		PASS	0.473	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			25	72	25	72	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67786655	67786655	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:67786655G>A	ENST00000539229.1	+	6	524	c.408G>A	c.(406-408)ctG>ctA	p.L136L	ALDH3B1_ENST00000316367.6_Silent_p.L136L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Silent_p.L100L|ALDH3B1_ENST00000007633.8_Silent_p.L136L	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	137					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GTGTGGTGCTGAAGCCATCGG	0.632																																						uc010rpy.1																			0					0						c.(409-411)CTG>CTA		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						41.0	47.0	45.0					11																	67786655		2109	4226	6335	SO:0001819	synonymous_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67786655G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.408G>A	11.37:g.67786655G>A						ALDH3B1_uc001omz.2_Silent_p.L137L|ALDH3B1_uc001ona.2_Silent_p.L100L|ALDH3B1_uc001onb.2_RNA	p.L137L	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			6	527	+			137					A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	ENST00000539229.1	37	c.411G>A																																																																																					PASS	0.632	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		8	12	8	12	---	---	---	---
RELT	84957	broad.mit.edu	37	11	73105576	73105576	+	Silent	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:73105576C>G	ENST00000064780.2	+	9	1104	c.843C>G	c.(841-843)ctC>ctG	p.L281L	RELT_ENST00000393580.2_Silent_p.L281L|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	281						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L281L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCACCATCTCCACACCGTGC	0.701																																						uc001otv.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(841-843)CTC>CTG		RELT tumor necrosis factor receptor precursor							55.0	60.0	58.0					11																	73105576		2199	4292	6491	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105576C>G	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.843C>G	11.37:g.73105576C>G						RELT_uc001otw.2_Silent_p.L281L|RELT_uc001otx.2_RNA	p.L281L	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			9	1008	+			281			Cytoplasmic (Potential).		Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.843C>G	CCDS8222.1																																																																																				PASS	0.701	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		78	51	78	51	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76076958	76076958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:76076958G>A	ENST00000260045.3	-	2	253	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	50					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q50*(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTATTTAGCTGATCAGGTGTT	0.368																																						uc001oxh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(148-150)CAG>TAG		protein-kinase, interferon-inducible double							140.0	134.0	136.0					11																	76076958		2200	4289	6489	SO:0001587	stop_gained	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76076958G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.148C>T	11.37:g.76076958G>A	ENSP00000260045:p.Gln50*						p.Q50*	NM_004705	NP_004696	O43422	P52K_HUMAN			2	148	-			50			THAP-type.		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Nonsense_Mutation	SNP	ENST00000260045.3	37	c.148C>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097918	0.97281	.	.	ENSG00000137492	ENST00000260045	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.6924	0.91588	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000260045:Q50X	Q	-	1	0	PRKRIR	75754606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.007000	0.93597	2.780000	0.95670	0.655000	0.94253	CAG		PASS	0.368	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		30	107	30	107	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100126572	100126572	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:100126572G>A	ENST00000524871.1	+	17	2376	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	CNTN5_ENST00000418526.2_Missense_Mutation_p.D622N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D696N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D696N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D696N|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	696	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.D696N(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)		CCCAGCAGCTGACAACCACAG	0.522																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2086-2088)GAC>AAC		contactin 5 isoform long							114.0	128.0	123.0					11																	100126572		2044	4202	6246	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100126572G>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.2086G>A	11.37:g.100126572G>A	ENSP00000435637:p.Asp696Asn					CNTN5_uc001pfz.2_Missense_Mutation_p.D696N|CNTN5_uc001pgb.2_Missense_Mutation_p.D622N|CNTN5_uc010ruk.1_5'UTR	p.D696N	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	2425	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	696			Fibronectin type-III 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2086G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998577	0.93227	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.041713	0.85682	D	0.000000	T	0.76765	0.4033	M	0.80746	2.51	0.80722	D	1	D;D	0.63880	0.992;0.993	P;D	0.63113	0.747;0.911	T	0.79790	-0.1655	10	0.87932	D	0	.	18.5146	0.90931	0.0:0.0:1.0:0.0	.	622;696	O94779-2;O94779	.;CNTN5_HUMAN	N	696;696;696;622;696	ENSP00000433575:D696N;ENSP00000436185:D696N;ENSP00000435637:D696N;ENSP00000393229:D622N;ENSP00000279463:D696N	ENSP00000279463:D696N	D	+	1	0	CNTN5	99631782	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	9.476000	0.97823	2.623000	0.88846	0.561000	0.74099	GAC		PASS	0.522	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		59	51	59	51	---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101771167	101771167	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:101771167G>T	ENST00000334289.3	-	7	1250	c.655C>A	c.(655-657)Ctt>Att	p.L219I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	219	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.L219I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TAACCTAGAAGATCTCCAAAT	0.348																																						uc001pgl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)CTT>ATT		angiopoietin-like 5 precursor							127.0	114.0	118.0					11																	101771167		2203	4299	6502	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101771167G>T	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.655C>A	11.37:g.101771167G>T	ENSP00000335255:p.Leu219Ile						p.L219I	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	7	1251	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	219			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.655C>A	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568279	0.65651	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.77229	-1.08;-1.08	4.79	4.79	0.61399	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	L	0.58969	1.84	0.58432	D	0.999998	D	0.52996	0.957	P	0.56563	0.801	T	0.83099	-0.0129	10	0.39692	T	0.17	.	18.2056	0.89853	0.0:0.0:1.0:0.0	.	219	Q86XS5	ANGL5_HUMAN	I	219;154	ENSP00000335255:L219I;ENSP00000433562:L154I	ENSP00000335255:L219I	L	-	1	0	ANGPTL5	101276377	1.000000	0.71417	0.991000	0.47740	0.694000	0.40290	5.936000	0.70153	2.346000	0.79739	0.650000	0.86243	CTT		PASS	0.348	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		29	30	29	30	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118769687	118769687	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:118769687C>A	ENST00000334801.3	-	8	4901	c.3937G>T	c.(3937-3939)Gtg>Ttg	p.V1313L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1313	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.V1313L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCGGATCACCTCGCTCAGC	0.642																																						uc001pug.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3937-3939)GTG>TTG		B-cell CLL/lymphoma 9-like							49.0	49.0	49.0					11																	118769687		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769687C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3937G>T	11.37:g.118769687C>A	ENSP00000335320:p.Val1313Leu					BCL9L_uc009zal.2_Missense_Mutation_p.V1308L	p.V1313L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4902	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1313			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.3937G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903895	0.92035	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.60171	0.21	4.28	3.28	0.37604	.	0.176063	0.26563	N	0.023667	T	0.56949	0.2020	M	0.62723	1.935	0.47065	D	0.999306	B;B	0.31931	0.347;0.235	B;B	0.35727	0.209;0.103	T	0.66164	-0.5992	10	0.87932	D	0	-20.8648	13.7807	0.63081	0.0:0.8452:0.1548:0.0	.	1308;1313	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	1313;1276;559;1313;1268	ENSP00000335320:V1313L	ENSP00000335320:V1313L	V	-	1	0	BCL9L	118274897	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.987000	0.70571	2.094000	0.63399	0.298000	0.19748	GTG		PASS	0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		25	59	25	59	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119020852	119020852	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr11:119020852G>A	ENST00000449422.2	+	2	365	c.177G>A	c.(175-177)gtG>gtA	p.V59V	ABCG4_ENST00000531739.1_Silent_p.V59V|ABCG4_ENST00000307417.3_Silent_p.V59V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	59					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V59V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTCAGCCGTGGACATCGAGT	0.642																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(175-177)GTG>GTA		ATP-binding cassette, subfamily G, member 4							84.0	89.0	87.0					11																	119020852		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020852G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.177G>A	11.37:g.119020852G>A						ABCG4_uc009zar.2_Silent_p.V59V	p.V59V	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	513	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	59			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.177G>A	CCDS8415.1																																																																																				PASS	0.642	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		4	158	4	158	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	863246	863246	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:863246T>A	ENST00000315939.6	+	1	1158	c.515T>A	c.(514-516)gTg>gAg	p.V172E	WNK1_ENST00000530271.2_Missense_Mutation_p.V172E|WNK1_ENST00000537687.1_Missense_Mutation_p.V172E|WNK1_ENST00000447667.2_Missense_Mutation_p.V172E|WNK1_ENST00000535572.1_Missense_Mutation_p.V172E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	172					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V172E(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTAGCCTTGTGGGGAGCAAA	0.697																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(514-516)GTG>GAG		WNK lysine deficient protein kinase 1							10.0	12.0	11.0					12																	863246		2179	4260	6439	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:863246T>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.515T>A	12.37:g.863246T>A	ENSP00000313059:p.Val172Glu					WNK1_uc001qin.2_Missense_Mutation_p.V172E|WNK1_uc001qip.3_Missense_Mutation_p.V172E	p.V172E	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	1022	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		172					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.515T>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.711648	0.00712	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.70282	-0.39;-0.37;-0.35;-0.47;-0.37	4.63	-1.98	0.07480	.	0.825505	0.10396	N	0.679746	T	0.51244	0.1663	L	0.36672	1.1	0.27963	N	0.936715	B;B;B	0.13145	0.007;0.004;0.005	B;B;B	0.12837	0.008;0.004;0.007	T	0.35351	-0.9792	10	0.12103	T	0.63	-0.0641	4.9015	0.13777	0.1287:0.3078:0.0:0.5634	.	172;172;172	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	E	172	ENSP00000441972:V172E;ENSP00000313059:V172E;ENSP00000444465:V172E;ENSP00000392542:V172E;ENSP00000433548:V172E	ENSP00000313059:V172E	V	+	2	0	WNK1	733507	0.270000	0.24152	0.143000	0.22291	0.017000	0.09413	-0.535000	0.06142	-0.548000	0.06199	-0.912000	0.02778	GTG		PASS	0.697	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		24	21	24	21	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020854	5020854	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:5020854A>T	ENST00000382545.3	+	2	1417	c.310A>T	c.(310-312)Agg>Tgg	p.R104W	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)	104					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.R104W(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)	CCGCCTGCGGAGGCCGGTCAA	0.617																																						uc001qnh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(310-312)AGG>TGG		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						40.0	47.0	44.0					12																	5020854		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.chr12:5020854A>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.310A>T	12.37:g.5020854A>T	ENSP00000371985:p.Arg104Trp						p.R104W	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1415	+			104					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.310A>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065946	0.55539	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.77358	-1.09	4.35	0.321	0.15883	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91405	0.5146	10	0.87932	D	0	.	13.2796	0.60207	0.4376:0.5624:0.0:0.0	.	104	Q09470	KCNA1_HUMAN	W	104	ENSP00000371985:R104W	ENSP00000228858:R104W	R	+	1	2	KCNA1	4891115	0.837000	0.29446	0.988000	0.46212	0.979000	0.70002	0.610000	0.24253	-0.029000	0.13827	-0.313000	0.08912	AGG		PASS	0.617	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		16	64	16	64	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7585977	7585977	+	Missense_Mutation	SNP	G	G	T	rs117072358	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:7585977G>T	ENST00000313599.3	-	3	495	c.438C>A	c.(436-438)aaC>aaA	p.N146K	CD163L1_ENST00000416109.2_Missense_Mutation_p.N146K|CD163L1_ENST00000396630.1_Missense_Mutation_p.N146K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	146	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.N146K(1)|p.N146N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCATAACAGTTCACACCAA	0.428																																						uc001qsy.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(436-438)AAC>AAA		scavenger receptor cysteine-rich type 1							106.0	98.0	101.0					12																	7585977		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7585977G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.438C>A	12.37:g.7585977G>T	ENSP00000315945:p.Asn146Lys					CD163L1_uc010sge.1_Missense_Mutation_p.N146K	p.N146K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			3	464	-			146			SRCR 1.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.438C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259947	0.23051	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	2.22	-3.09	0.05331	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.842350	0.02003	U	0.046413	T	0.18215	0.0437	N	0.05031	-0.125	0.20873	N	0.999837	B;B	0.19073	0.033;0.033	B;B	0.19666	0.026;0.026	T	0.16424	-1.0403	10	0.16420	T	0.52	.	8.1342	0.31046	0.585:0.0:0.415:0.0	.	146;146	E7EVK4;Q9NR16	.;C163B_HUMAN	K	146;146;146;50	ENSP00000315945:N146K;ENSP00000393474:N146K;ENSP00000379871:N146K;ENSP00000442328:N50K	ENSP00000315945:N146K	N	-	3	2	CD163L1	7477244	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-4.624000	0.00207	-0.997000	0.03450	0.563000	0.77884	AAC		PASS	0.428	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		66	152	66	152	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11339133	11339133	+	Silent	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:11339133A>G	ENST00000334266.1	-	1	410	c.411T>C	c.(409-411)tcT>tcC	p.S137S		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	137					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S137S(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			GTAAGAACAAAGACAATATAA	0.328																																					Melanoma(15;352 722 10077 19546 48810)	uc001qzr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(409-411)TCT>TCC		taste receptor, type 2, member 42							56.0	57.0	56.0					12																	11339133		2203	4300	6503	SO:0001819	synonymous_variant	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339133A>G	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.411T>C	12.37:g.11339133A>G						PRB4_uc001qzf.1_Intron	p.S137S	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	411	-			137			Helical; Name=3; (Potential).		A2RRP4|Q645X0	Silent	SNP	ENST00000334266.1	37	c.411T>C	CCDS31747.1																																																																																				PASS	0.328	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		11	48	11	48	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19496351	19496351	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:19496351G>C	ENST00000299275.6	+	17	2342	c.2336G>C	c.(2335-2337)aGa>aCa	p.R779T	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R710T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R537T|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R837T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R779T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R698T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R779T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R882T|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R837T	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	779					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.R882T(1)|p.R779T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGCAGCAAAGAGGTACTACA	0.403																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2335-2337)AGA>ACA		pleckstrin homology domain containing, family A							110.0	113.0	112.0					12																	19496351		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19496351G>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2336G>C	12.37:g.19496351G>C	ENSP00000299275:p.Arg779Thr					PLEKHA5_uc010sie.1_Missense_Mutation_p.R882T|PLEKHA5_uc001rea.2_Missense_Mutation_p.R837T|PLEKHA5_uc009zin.2_Missense_Mutation_p.R537T|PLEKHA5_uc010sif.1_Missense_Mutation_p.R710T|PLEKHA5_uc010sig.1_Missense_Mutation_p.R698T|PLEKHA5_uc010sih.1_Missense_Mutation_p.R671T|PLEKHA5_uc001rec.1_Missense_Mutation_p.R525T|PLEKHA5_uc009zio.2_Missense_Mutation_p.R101T	p.R779T	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			17	2422	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		779					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2336G>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524265	0.96431	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.77	4.77	0.60923	.	0.419792	0.22955	N	0.053604	D	0.90830	0.7120	M	0.85041	2.73	0.44762	D	0.997767	D;D;D;D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;0.999;0.994;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.946;0.999;0.997;0.996;0.994;0.983;0.997;0.999	D	0.92161	0.5736	10	0.66056	D	0.02	-18.0994	18.1621	0.89712	0.0:0.0:1.0:0.0	.	779;698;710;882;779;882;779;837	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	T	779;837;779;883;882;779;537;837;710;698;671;116	ENSP00000325155:R779T;ENSP00000347560:R837T;ENSP00000352104:R779T;ENSP00000404296:R882T;ENSP00000299275:R779T;ENSP00000440611:R537T;ENSP00000439673:R837T;ENSP00000400411:R710T;ENSP00000439837:R698T;ENSP00000440371:R671T;ENSP00000443553:R116T	ENSP00000299275:R779T	R	+	2	0	PLEKHA5	19387618	1.000000	0.71417	0.981000	0.43875	0.853000	0.48598	7.702000	0.84576	2.377000	0.81083	0.591000	0.81541	AGA		PASS	0.403	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		11	60	11	60	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21196375	21196375	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:21196375T>A	ENST00000421593.2	+	6	694	c.694T>A	c.(694-696)Ttg>Atg	p.L232M	LST3_ENST00000381541.3_Missense_Mutation_p.L279M|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.L279M|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L232M(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						ATTCTTTTTCTTGCCTCTAAA	0.358																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)TTG>ATG		liver-specific organic anion transporter 3TM12							119.0	119.0	119.0					12																	21196375		2203	4300	6503	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21196375T>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.694T>A	12.37:g.21196375T>A	ENSP00000394168:p.Leu232Met					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.L279M	p.L232M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	694	+			232					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.694T>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	12.18	1.860545	0.32884	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.48522	0.81;0.81;0.81	3.17	-2.28	0.06826	.	0.081063	0.51477	D	0.000083	T	0.62684	0.2448	M	0.82630	2.6	0.29177	N	0.876727	D;D	0.67145	0.996;0.996	D;D	0.75020	0.985;0.985	T	0.59337	-0.7473	10	0.59425	D	0.04	.	8.4321	0.32764	0.0:0.4659:0.0:0.5341	.	232;279	G3V0H7;F5H094	.;.	M	279;279;232	ENSP00000370952:L279M;ENSP00000452013:L279M;ENSP00000394168:L232M	ENSP00000370952:L279M	L	+	1	2	SLCO1B7;RP11-545J16.1	21087642	0.930000	0.31532	0.165000	0.22776	0.005000	0.04900	0.002000	0.13061	-0.392000	0.07751	-1.889000	0.00537	TTG		PASS	0.358	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		55	156	55	156	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21331541	21331541	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:21331541G>C	ENST00000256958.2	+	6	609	c.513G>C	c.(511-513)tgG>tgC	p.W171C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	171					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 plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.W171C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CATACATGTGGATATATGTGT	0.338																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(511-513)TGG>TGC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						138.0	130.0	133.0					12																	21331541		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21331541G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.513G>C	12.37:g.21331541G>C	ENSP00000256958:p.Trp171Cys						p.W171C	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			6	617	+			171			Helical; Name=4; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.513G>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982398	0.34942	.	.	ENSG00000134538	ENST00000256958	T	0.40756	1.02	3.62	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81426	-0.0938	10	0.87932	D	0	.	15.813	0.78578	0.0:0.0:1.0:0.0	.	171	Q9Y6L6	SO1B1_HUMAN	C	171	ENSP00000256958:W171C	ENSP00000256958:W171C	W	+	3	0	SLCO1B1	21222808	1.000000	0.71417	0.936000	0.37596	0.118000	0.20060	9.007000	0.93597	2.018000	0.59344	0.313000	0.20887	TGG		PASS	0.338	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		20	213	20	213	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21733447	21733447	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:21733447G>C	ENST00000261195.2	-	2	386	c.132C>G	c.(130-132)atC>atG	p.I44M		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	44					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.I44M(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACAGTATAGATGCCTCCAA	0.333																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(130-132)ATC>ATG		glycogen synthase 2							146.0	141.0	143.0					12																	21733447		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733447G>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.132C>G	12.37:g.21733447G>C	ENSP00000261195:p.Ile44Met						p.I44M	NM_021957	NP_068776	P54840	GYS2_HUMAN			2	387	-			44					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.132C>G	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021380	0.54576	.	.	ENSG00000111713	ENST00000261195	T	0.71817	-0.6	5.31	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.84995	0.5596	M	0.92219	3.285	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	D	0.85204	0.1017	10	0.87932	D	0	-22.6465	8.04	0.30515	0.3235:0.0:0.6765:0.0	.	44	P54840	GYS2_HUMAN	M	44	ENSP00000261195:I44M	ENSP00000261195:I44M	I	-	3	3	GYS2	21624714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.595000	0.36708	0.821000	0.34540	0.563000	0.77884	ATC		PASS	0.333	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		5	324	5	324	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22070004	22070004	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:22070004G>A	ENST00000261201.4	-	4	439	c.440C>T	c.(439-441)aCa>aTa	p.T147I	ABCC9_ENST00000261200.4_Missense_Mutation_p.T147I|ABCC9_ENST00000345162.2_Missense_Mutation_p.T147I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	147					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.T147I(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TATTGTTTTTGTAATAAAGGC	0.373																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(439-441)ACA>ATA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						133.0	136.0	135.0					12																	22070004		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22070004G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.440C>T	12.37:g.22070004G>A	ENSP00000261201:p.Thr147Ile					ABCC9_uc001rfh.2_Missense_Mutation_p.T147I|ABCC9_uc001rfj.1_Missense_Mutation_p.T147I	p.T147I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			4	460	-			147			Helical; Name=4; (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.440C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820280	0.71028	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.96265	-3.96;-3.96;-3.96	5.2	5.2	0.72013	.	0.280200	0.39020	N	0.001483	D	0.95411	0.8510	L	0.56769	1.78	0.50467	D	0.999879	P;P	0.47962	0.84;0.903	B;B	0.43052	0.374;0.406	D	0.95372	0.8465	10	0.48119	T	0.1	-6.6603	18.7318	0.91738	0.0:0.0:1.0:0.0	.	147;147	O60706;O60706-2	ABCC9_HUMAN;.	I	147	ENSP00000261200:T147I;ENSP00000261201:T147I;ENSP00000261202:T147I	ENSP00000261200:T147I	T	-	2	0	ABCC9	21961271	1.000000	0.71417	0.986000	0.45419	0.902000	0.53008	6.583000	0.74053	2.429000	0.82318	0.650000	0.86243	ACA		PASS	0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		152	185	152	185	---	---	---	---
CACNB3	784	broad.mit.edu	37	12	49221640	49221640	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:49221640G>A	ENST00000301050.2	+	13	1612	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R	CACNB3_ENST00000547230.1_Silent_p.R430R|CACNB3_ENST00000540990.1_Silent_p.R458R|CACNB3_ENST00000536187.2_Silent_p.R470R|CACNB3_ENST00000547392.1_Silent_p.R444R	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	471					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R471R(1)|p.R470R(1)		autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGTGACCGGAACTGGCAGC	0.657																																						uc001rsl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1411-1413)CGG>CGA		calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)						66.0	66.0	66.0					12																	49221640		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221640G>A		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1413G>A	12.37:g.49221640G>A						CACNB3_uc010sly.1_Silent_p.R458R|CACNB3_uc010slz.1_Silent_p.R470R|CACNB3_uc001rsk.1_Silent_p.R318R	p.R471R	NM_000725	NP_000716	P54284	CACB3_HUMAN			13	1614	+			471					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.1413G>A	CCDS8769.1																																																																																				PASS	0.657	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			20	77	20	77	---	---	---	---
TMPRSS12	283471	broad.mit.edu	37	12	51252702	51252702	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:51252702C>T	ENST00000398458.3	+	3	550	c.518C>T	c.(517-519)gCa>gTa	p.A173V	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.A173V	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	173	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A173V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AATGATATTGCACTTTTTCAC	0.313																																						uc001rwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GCA>GTA		transmembrane protease, serine 12 precursor							40.0	37.0	38.0					12																	51252702		1816	4071	5887	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51252702C>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.518C>T	12.37:g.51252702C>T	ENSP00000381476:p.Ala173Val					TMPRSS12_uc001rwy.2_Missense_Mutation_p.A173V	p.A173V	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			3	565	+			173			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.518C>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609743	0.87258	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	T;T	0.77489	-1.1;0.31	5.89	5.89	0.94794	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000016	D	0.90494	0.7022	M	0.90082	3.085	0.46185	D	0.998918	D;D	0.89917	0.999;1.0	D;D	0.97110	0.977;1.0	D	0.91756	0.5416	10	0.87932	D	0	-21.1234	17.7465	0.88422	0.0:1.0:0.0:0.0	.	173;173	F8WBX2;Q86WS5	.;TMPSC_HUMAN	V	173	ENSP00000447259:A173V;ENSP00000381476:A173V	ENSP00000381476:A173V	A	+	2	0	TMPRSS12	49538969	0.995000	0.38212	0.986000	0.45419	0.919000	0.55068	4.217000	0.58547	2.788000	0.95919	0.557000	0.71058	GCA		PASS	0.313	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		8	17	8	17	---	---	---	---
KRT82	3888	broad.mit.edu	37	12	52794402	52794402	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:52794402A>G	ENST00000257974.2	-	4	763	c.686T>C	c.(685-687)gTg>gCg	p.V229A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	229	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.V229A(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCTGTGTCCACGTCCTGCAG	0.602																																						uc001sai.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(685-687)GTG>GCG		keratin 82							96.0	81.0	86.0					12																	52794402		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52794402A>G	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.686T>C	12.37:g.52794402A>G	ENSP00000257974:p.Val229Ala						p.V229A	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	4	801	-			229			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.686T>C	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656635	0.67586	.	.	ENSG00000161850	ENST00000257974	D	0.90197	-2.63	5.03	5.03	0.67393	Filament (1);	0.000000	0.45361	D	0.000379	D	0.94571	0.8251	M	0.80746	2.51	0.36943	D	0.892465	D	0.89917	1.0	D	0.87578	0.998	D	0.96119	0.9083	10	0.87932	D	0	.	9.8015	0.40766	0.919:0.0:0.081:0.0	.	229	Q9NSB4	KRT82_HUMAN	A	229	ENSP00000257974:V229A	ENSP00000257974:V229A	V	-	2	0	KRT82	51080669	1.000000	0.71417	0.978000	0.43139	0.597000	0.36814	6.775000	0.75018	2.040000	0.60383	0.379000	0.24179	GTG		PASS	0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		47	56	47	56	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53448142	53448142	+	Missense_Mutation	SNP	G	G	C	rs552336137		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:53448142G>C	ENST00000314250.6	+	7	729	c.439G>C	c.(439-441)Gcg>Ccg	p.A147P	TENC1_ENST00000546602.1_Missense_Mutation_p.A147P|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.A147P|TENC1_ENST00000451358.1_Missense_Mutation_p.A147P|TENC1_ENST00000314276.3_Missense_Mutation_p.A157P|TENC1_ENST00000549700.1_Missense_Mutation_p.A147P|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.A23P|RP11-983P16.4_ENST00000546793.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	147	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.A147P(1)|p.A157P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGCCTTCCCCGCGCGGCCCGA	0.692																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(439-441)GCG>CCG		tensin like C1 domain containing phosphatase							23.0	25.0	25.0					12																	53448142		2200	4292	6492	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53448142G>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.439G>C	12.37:g.53448142G>C	ENSP00000319684:p.Ala147Pro					uc001sbk.1_RNA|TENC1_uc001sbl.2_Missense_Mutation_p.A23P|TENC1_uc001sbm.2_Missense_Mutation_p.A157P|TENC1_uc001sbn.2_Missense_Mutation_p.A157P|TENC1_uc001sbo.1_Missense_Mutation_p.A147P	p.A147P	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			7	574	+			147			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.439G>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764066	0.49574	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	4.66	1.44	0.22558	Phosphatase tensin type (1);	0.275088	0.35407	N	0.003232	D	0.96926	0.8996	L	0.56280	1.765	0.21802	N	0.999534	B;B;B;D	0.65815	0.0;0.005;0.001;0.995	B;B;B;P	0.53809	0.001;0.022;0.002;0.735	D	0.91624	0.5313	10	0.15952	T	0.53	-3.5995	2.627	0.04932	0.0935:0.1646:0.4034:0.3385	.	147;147;157;124	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	P	23;157;147;147;147;147;147;147	ENSP00000369232:A23P;ENSP00000319756:A157P;ENSP00000319684:A147P;ENSP00000393362:A147P;ENSP00000449363:A147P;ENSP00000447021:A147P;ENSP00000449361:A147P	ENSP00000319684:A147P	A	+	1	0	TENC1	51734409	0.016000	0.18221	0.853000	0.33588	0.915000	0.54546	0.778000	0.26732	0.466000	0.27193	-0.314000	0.08810	GCG		PASS	0.692	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		31	47	31	47	---	---	---	---
GPR182	11318	broad.mit.edu	37	12	57390016	57390016	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:57390016G>A	ENST00000300098.1	+	2	1242	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	341					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.K341K(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACCTTCCTAAGGACCAGACCA	0.567																																						uc001smk.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1021-1023)AAG>AAA		G protein-coupled receptor 182							125.0	122.0	123.0					12																	57390016		2203	4300	6503	SO:0001819	synonymous_variant	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57390016G>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.1023G>A	12.37:g.57390016G>A						RDH16_uc010sqx.1_Intron	p.K341K	NM_007264	NP_009195	O15218	GP182_HUMAN			2	1117	+			341			Cytoplasmic (Potential).			Silent	SNP	ENST00000300098.1	37	c.1023G>A	CCDS8927.1																																																																																				PASS	0.567	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		59	239	59	239	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64521760	64521760	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:64521760C>G	ENST00000355086.3	+	21	3184	c.2660C>G	c.(2659-2661)cCa>cGa	p.P887R	SRGAP1_ENST00000357825.3_Missense_Mutation_p.P864R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.P824R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	887					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.P887R(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTAGGGTCCCCAAGCCTTGCC	0.642																																						uc010ssp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2659-2661)CCA>CGA		SLIT-ROBO Rho GTPase activating protein 1							98.0	89.0	92.0					12																	64521760		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64521760C>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2660C>G	12.37:g.64521760C>G	ENSP00000347198:p.Pro887Arg					SRGAP1_uc001srv.2_Missense_Mutation_p.P824R	p.P887R	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	21	2716	+			887					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.2660C>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066780	0.55539	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19105	3.17;2.75;2.17	5.13	5.13	0.70059	.	0.000000	0.34959	U	0.003554	T	0.25531	0.0621	L	0.50333	1.59	0.80722	D	1	B;B	0.19935	0.04;0.004	B;B	0.29353	0.101;0.018	T	0.03728	-1.1009	9	.	.	.	.	19.1372	0.93433	0.0:1.0:0.0:0.0	.	887;824	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	R	887;864;824	ENSP00000347198:P887R;ENSP00000350480:P864R;ENSP00000437948:P824R	.	P	+	2	0	SRGAP1	62808027	1.000000	0.71417	0.977000	0.42913	0.108000	0.19459	5.639000	0.67868	2.827000	0.97445	0.650000	0.86243	CCA		PASS	0.642	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			72	94	72	94	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975638	94975638	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:94975638C>A	ENST00000261226.4	-	2	886	c.755G>T	c.(754-756)gGc>gTc	p.G252V	TMCC3_ENST00000551457.1_Missense_Mutation_p.G221V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	252						integral component of membrane (GO:0016021)		p.G252V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATCATCACTGCCATACTTGGG	0.562																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(754-756)GGC>GTC		transmembrane and coiled-coil domain family 3							101.0	91.0	94.0					12																	94975638		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975638C>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.755G>T	12.37:g.94975638C>A	ENSP00000261226:p.Gly252Val					TMCC3_uc001tdi.2_Missense_Mutation_p.G221V	p.G252V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	873	-			252					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.755G>T	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510641	0.27036	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	5.92	5.02	0.67125	.	0.410851	0.30142	N	0.010319	T	0.37376	0.1001	L	0.56199	1.76	0.58432	D	0.999997	B	0.02656	0.0	B	0.09377	0.004	T	0.15838	-1.0423	10	0.33141	T	0.24	-41.7264	10.681	0.45815	0.1396:0.507:0.3534:0.0	.	252	Q9ULS5	TMCC3_HUMAN	V	252;221	ENSP00000261226:G252V;ENSP00000449888:G221V	ENSP00000261226:G252V	G	-	2	0	TMCC3	93499769	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	1.727000	0.38095	1.475000	0.48197	0.555000	0.69702	GGC		PASS	0.562	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		35	129	35	129	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100169348	100169348	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:100169348C>A	ENST00000547776.2	-	7	938	c.939G>T	c.(937-939)gaG>gaT	p.E313D	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E313D|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	313						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E313D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGAAGGAGACTCAACAGGAG	0.398																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GAG>GAT		cajalin 2 isoform a							142.0	128.0	132.0					12																	100169348		1870	4099	5969	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100169348C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.939G>T	12.37:g.100169348C>A	ENSP00000449629:p.Glu313Asp					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.E279D	p.E313D	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	7	1356	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	313					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.939G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.491014	0.01009	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.46063	0.93;0.93;0.88	5.86	1.62	0.23740	.	0.532259	0.19124	N	0.122096	T	0.09949	0.0244	N	0.00554	-1.385	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07809	-1.0753	9	.	.	.	-3.1793	3.9775	0.09481	0.2327:0.4956:0.0:0.2717	.	279;313	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	D	313;313;279	ENSP00000449629:E313D;ENSP00000331381:E313D;ENSP00000449894:E279D	.	E	-	3	2	ANKS1B	98693479	0.587000	0.26791	0.809000	0.32408	0.066000	0.16364	0.166000	0.16583	0.392000	0.25172	0.650000	0.86243	GAG		PASS	0.398	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		19	73	19	73	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:101295607T>A	ENST00000392977.3	+	2	254	c.44T>A	c.(43-45)gTc>gAc	p.V15D	ANO4_ENST00000538618.1_Missense_Mutation_p.V181D|ANO4_ENST00000392979.3_Missense_Mutation_p.V15D|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	15					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V15D(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(43-45)GTC>GAC		anoctamin 4							95.0	93.0	94.0					12																	101295607		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101295607T>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.44T>A	12.37:g.101295607T>A	ENSP00000376703:p.Val15Asp	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.V15D|ANO4_uc001thx.2_Missense_Mutation_p.V15D	p.V15D	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			2	616	+			15			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.44T>A		.	.	.	.	.	.	.	.	.	.	T	18.92	3.725793	0.69074	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.77229	-1.08;1.09;-0.49	5.63	4.44	0.53790	.	0.427195	0.22411	N	0.060415	T	0.60625	0.2283	N	0.14661	0.345	0.80722	D	1	B;B	0.19583	0.037;0.018	B;B	0.18263	0.009;0.021	T	0.56986	-0.7888	10	0.87932	D	0	.	7.441	0.27183	0.0:0.2383:0.0:0.7617	.	15;15	Q32M45;Q32M45-2	ANO4_HUMAN;.	D	181;15;15	ENSP00000443751:V181D;ENSP00000376705:V15D;ENSP00000376703:V15D	ENSP00000376703:V15D	V	+	2	0	ANO4	99819738	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	1.183000	0.32041	0.905000	0.36596	0.528000	0.53228	GTC		PASS	0.468	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		31	123	31	123	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101693755	101693755	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:101693755C>G	ENST00000261637.4	+	14	1765	c.1591C>G	c.(1591-1593)Ctt>Gtt	p.L531V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	531					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L531V(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGACAGACCTCTTGAGAAAGA	0.428																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1591-1593)CTT>GTT		down-regulated in metastasis							207.0	207.0	207.0					12																	101693755		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101693755C>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1591C>G	12.37:g.101693755C>G	ENSP00000261637:p.Leu531Val						p.L531V	NM_014503	NP_055318	O75691	UTP20_HUMAN			14	1747	+			531					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1591C>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707091	0.30232	.	.	ENSG00000120800	ENST00000261637	T	0.63417	-0.04	5.39	4.42	0.53409	Armadillo-type fold (1);	0.224053	0.36338	N	0.002647	T	0.42787	0.1218	L	0.32530	0.975	0.38013	D	0.934604	P	0.39883	0.693	B	0.30495	0.116	T	0.45175	-0.9279	10	0.11794	T	0.64	-15.5359	12.3806	0.55305	0.217:0.783:0.0:0.0	.	531	O75691	UTP20_HUMAN	V	531	ENSP00000261637:L531V	ENSP00000261637:L531V	L	+	1	0	UTP20	100217886	0.958000	0.32768	0.996000	0.52242	0.996000	0.88848	1.161000	0.31773	2.536000	0.85505	0.650000	0.86243	CTT		PASS	0.428	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		204	298	204	298	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101870684	101870684	+	Splice_Site	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:101870684T>A	ENST00000551346.1	+	2	161	c.2T>A	c.(1-3)aTg>aAg	p.M1K	SPIC_ENST00000299272.5_Splice_Site_p.M1K			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	1					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M1K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TAATGAAATATGGTAAGCTGA	0.259																																						uc001tid.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1-3)ATG>AAG		Spi-C transcription factor (Spi-1/PU.1 related)							22.0	24.0	23.0					12																	101870684		2180	4220	6400	SO:0001630	splice_region_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101870684T>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.3+1T>A	12.37:g.101870684T>A						SPIC_uc009zua.2_5'Flank|SPIC_uc010svp.1_5'Flank	p.M1K	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			2	161	+			1						Missense_Mutation	SNP	ENST00000551346.1	37	c.2T>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.293734	0.40594	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.22539	1.95;1.95	3.48	2.32	0.28847	.	0.613849	0.16051	N	0.231986	T	0.15825	0.0381	.	.	.	0.80722	D	1	B	0.33073	0.396	B	0.29176	0.099	T	0.05632	-1.0873	9	0.87932	D	0	-0.0371	6.5116	0.22224	0.0:0.1206:0.0:0.8794	.	1	Q8N5J4	SPIC_HUMAN	K	1	ENSP00000448580:M1K;ENSP00000299272:M1K	ENSP00000299272:M1K	M	+	2	0	SPIC	100394815	0.959000	0.32827	0.405000	0.26409	0.034000	0.12701	0.828000	0.27435	0.518000	0.28383	0.254000	0.18369	ATG		PASS	0.259	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323	Missense_Mutation	8	32	8	32	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109835579	109835579	+	Silent	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:109835579A>C	ENST00000431443.2	+	4	484	c.484A>C	c.(484-486)Aga>Cga	p.R162R	MYO1H_ENST00000310903.5_Silent_p.R162R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	162	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R162R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAACTCCAGCAGATTTGGGAA	0.428																																						uc010sxn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)AGA>CGA		myosin 1H							76.0	73.0	74.0					12																	109835579		1895	4160	6055	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109835579A>C		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.484A>C	12.37:g.109835579A>C							p.R162R	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			4	484	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.484A>C																																																																																					PASS	0.428	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		9	42	9	42	---	---	---	---
C12orf76	400073	broad.mit.edu	37	12	110480255	110480255	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:110480255C>T	ENST00000309050.5	-	5	673	c.309G>A	c.(307-309)ggG>ggA	p.G103G	C12orf76_ENST00000546651.2_Intron|C12orf76_ENST00000551185.2_3'UTR|C12orf76_ENST00000546627.1_3'UTR|C12orf76_ENST00000549724.1_Missense_Mutation_p.G48E|C12orf76_ENST00000548936.1_5'UTR	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	103								p.G103G(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAAAATGGTTCCCATCAACAC	0.468																																						uc001tqd.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(307-309)GGG>GGA		hypothetical protein LOC400073							90.0	70.0	77.0					12																	110480255		2203	4300	6503	SO:0001819	synonymous_variant	400073							g.chr12:110480255C>T	BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.309G>A	12.37:g.110480255C>T						C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|C12orf76_uc001tqb.1_RNA|C12orf76_uc001tqc.1_Missense_Mutation_p.G48E	p.G103G	NM_207435	NP_997318	Q8N812	CL076_HUMAN			5	674	-			103						Silent	SNP	ENST00000309050.5	37	c.309G>A	CCDS9141.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739213	0.89573	.	.	ENSG00000174456	ENST00000549724	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	T	0.78400	0.4277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80843	-0.1201	5	0.87932	D	0	.	18.1523	0.89678	0.0:1.0:0.0:0.0	.	.	.	.	E	48	.	ENSP00000450232:G48E	G	-	2	0	C12orf76	108964638	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.685000	0.61693	2.611000	0.88343	0.655000	0.94253	GGA		PASS	0.468	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435		22	69	22	69	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121670841	121670841	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:121670841G>C	ENST00000337233.4	+	11	1394	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N	P2RX4_ENST00000543171.1_Missense_Mutation_p.K261N|P2RX4_ENST00000359949.7_Missense_Mutation_p.K378N	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	362					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.K362N(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGCATGAAGAAAAGACTCT	0.502																																						uc001tzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)AAG>AAC		purinergic receptor P2X4							186.0	203.0	197.0					12																	121670841		2203	4300	6503	SO:0001583	missense	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121670841G>C	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.1086G>C	12.37:g.121670841G>C	ENSP00000336607:p.Lys362Asn					P2RX4_uc009zxc.2_Missense_Mutation_p.K335N|P2RX4_uc001tzs.2_Missense_Mutation_p.K378N|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.K261N	p.K362N	NM_002560	NP_002551	Q99571	P2RX4_HUMAN			11	1390	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		362			Cytoplasmic (Potential).		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	c.1086G>C	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014066	0.54468	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000542067	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.63	4.73	0.59995	.	0.085885	0.85682	D	0.000000	T	0.09905	0.0243	L	0.57536	1.79	0.50813	D	0.999897	P;B;P	0.37708	0.552;0.417;0.606	B;B;B	0.40534	0.223;0.111;0.332	T	0.04495	-1.0947	10	0.38643	T	0.18	-24.9409	12.4952	0.55923	0.1353:0.0:0.8647:0.0	.	335;378;362	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	N	362;378;261;335	ENSP00000336607:K362N;ENSP00000353032:K378N;ENSP00000438131:K261N;ENSP00000438329:K335N	ENSP00000336607:K362N	K	+	3	2	P2RX4	120155224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.244000	0.51399	2.650000	0.89964	0.563000	0.77884	AAG		PASS	0.502	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		189	253	189	253	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130831075	130831075	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:130831075G>A	ENST00000245255.3	+	5	749	c.477G>A	c.(475-477)aaG>aaA	p.K159K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	159					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.K159K(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAATTGGAAAGTGTCATGCTT	0.393																																						uc001uik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(475-477)AAG>AAA		piwi-like 1							101.0	97.0	98.0					12																	130831075		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130831075G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.477G>A	12.37:g.130831075G>A						PIWIL1_uc001uij.1_Silent_p.K159K	p.K159K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	5	567	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		159					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.477G>A	CCDS9268.1																																																																																				PASS	0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			83	51	83	51	---	---	---	---
MRPL57	78988	broad.mit.edu	37	13	21751154	21751154	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:21751154G>C	ENST00000309594.4	+	2	177	c.99G>C	c.(97-99)caG>caC	p.Q33H	SKA3_ENST00000400018.3_5'Flank|SKA3_ENST00000314759.5_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		33					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.Q33H(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GCGCCAAGCAGAACATGATCC	0.682																																						uc001unw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)CAG>CAC		mitochondrial ribosomal protein 63							30.0	32.0	31.0					13																	21751154		2195	4291	6486	SO:0001583	missense	78988							g.chr13:21751154G>C																												ENST00000309594.4:c.99G>C	13.37:g.21751154G>C	ENSP00000310726:p.Gln33His					SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	p.Q33H	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	589	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	33					A2A332	Missense_Mutation	SNP	ENST00000309594.4	37	c.99G>C	CCDS9296.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363177	0.41902	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.51	3.79	0.43588	.	0.502444	0.20684	N	0.087589	T	0.44244	0.1284	L	0.60455	1.87	0.09310	N	1	P	0.46220	0.874	P	0.50378	0.639	T	0.24404	-1.0161	9	0.30854	T	0.27	-10.5861	5.8171	0.18497	0.2271:0.14:0.6329:0.0	.	33	Q9BQC6	RT63_HUMAN	H	33	.	ENSP00000310726:Q33H	Q	+	3	2	MRP63	20649154	0.998000	0.40836	0.004000	0.12327	0.087000	0.18053	1.805000	0.38883	0.711000	0.32018	0.491000	0.48974	CAG		PASS	0.682	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			4	59	4	59	---	---	---	---
SHISA2	387914	broad.mit.edu	37	13	26621140	26621140	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:26621140G>T	ENST00000319420.3	-	2	454	c.399C>A	c.(397-399)tcC>tcA	p.S133S		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	133					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S133S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CTGCCACCAGGGACCCCAAGA	0.552																																						uc001uqm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(397-399)TCC>TCA		shisa homolog 2 precursor							64.0	56.0	59.0					13																	26621140		2203	4300	6503	SO:0001819	synonymous_variant	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621140G>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.399C>A	13.37:g.26621140G>T							p.S133S	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			2	484	-			133			Cytoplasmic (Potential).		B9EH70|Q5W0G8	Silent	SNP	ENST00000319420.3	37	c.399C>A	CCDS31951.1																																																																																				PASS	0.552	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		28	29	28	29	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41341022	41341022	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:41341022T>G	ENST00000323563.6	-	2	336	c.300A>C	c.(298-300)ttA>ttC	p.L100F		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	100						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)	p.L100F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TAATAATGCCTAACAAGTCTT	0.398																																						uc001uxm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)TTA>TTC		mitochondrial ribosomal protein S31 precursor							190.0	182.0	185.0					13																	41341022		2203	4299	6502	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41341022T>G	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.300A>C	13.37:g.41341022T>G	ENSP00000315397:p.Leu100Phe						p.L100F	NM_005830	NP_005821	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	375	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	100					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.300A>C	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	6.012	0.370630	0.11409	.	.	ENSG00000102738	ENST00000323563	T	0.32753	1.44	4.54	-3.89	0.04193	.	0.306454	0.29806	N	0.011149	T	0.28466	0.0704	M	0.79805	2.47	0.09310	N	1	B	0.33583	0.418	B	0.34489	0.184	T	0.18903	-1.0322	10	0.42905	T	0.14	.	7.091	0.25283	0.0:0.4982:0.15:0.3517	.	100	Q92665	RT31_HUMAN	F	100	ENSP00000315397:L100F	ENSP00000315397:L100F	L	-	3	2	MRPS31	40239022	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	-0.335000	0.07873	-0.664000	0.05324	-0.371000	0.07208	TTA		PASS	0.398	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			80	95	80	95	---	---	---	---
MLNR	2862	broad.mit.edu	37	13	49796434	49796434	+	Missense_Mutation	SNP	C	C	T	rs574134980		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:49796434C>T	ENST00000218721.1	+	2	1160	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	387					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)	p.A387V(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AGGGACACTGCGGGGGAAGTT	0.577																																						uc010tgj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GCG>GTG		motilin receptor							56.0	57.0	57.0					13																	49796434		2203	4300	6503	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796434C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1160C>T	13.37:g.49796434C>T	ENSP00000218721:p.Ala387Val						p.A387V	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1160	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	387			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000218721.1	37	c.1160C>T	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341300	0.24339	.	.	ENSG00000102539	ENST00000218721	T	0.69926	-0.44	4.19	-6.36	0.01969	.	1.955360	0.04125	U	0.317045	T	0.38188	0.1031	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11203	-1.0597	10	0.20519	T	0.43	.	1.2626	0.02004	0.1335:0.2361:0.2407:0.3898	.	387	O43193	MTLR_HUMAN	V	387	ENSP00000218721:A387V	ENSP00000218721:A387V	A	+	2	0	MLNR	48694435	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.839000	0.04368	-0.990000	0.03481	-0.181000	0.13052	GCG		PASS	0.577	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		44	37	44	37	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77724913	77724913	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:77724913T>C	ENST00000544440.2	-	47	6990	c.6973A>G	c.(6973-6975)Atg>Gtg	p.M2325V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.M2363V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2325V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.M2325V(2)|p.M2363V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCACTATCATTGGTTCATAT	0.358																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(6973-6975)ATG>GTG		MYC binding protein 2							202.0	184.0	190.0					13																	77724913		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77724913T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6973A>G	13.37:g.77724913T>C	ENSP00000444596:p.Met2325Val					MYCBP2_uc010aev.2_Missense_Mutation_p.M1729V	p.M2325V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	48	7064	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2325			Filamin.			Missense_Mutation	SNP	ENST00000544440.2	37	c.6973A>G		.	.	.	.	.	.	.	.	.	.	T	13.44	2.237262	0.39498	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.25085	1.83;1.82;1.83	5.45	5.45	0.79879	Immunoglobulin E-set (1);	0.043490	0.85682	D	0.000000	T	0.15912	0.0383	N	0.11427	0.14	0.45648	D	0.998573	B	0.02656	0.0	B	0.01281	0.0	T	0.05468	-1.0883	10	0.33141	T	0.24	.	15.5272	0.75919	0.0:0.0:0.0:1.0	.	2325	O75592	MYCB2_HUMAN	V	2325;2363;2325	ENSP00000349892:M2325V;ENSP00000384288:M2363V;ENSP00000444596:M2325V	ENSP00000349892:M2325V	M	-	1	0	MYCBP2	76622914	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.124000	0.50461	2.060000	0.61445	0.528000	0.53228	ATG		PASS	0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		134	94	134	94	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329946	88329946	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:88329946G>A	ENST00000325089.6	+	2	2522	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R527Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	768					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R768Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACCGCTCCCGAGAGGGCAAC	0.632																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2302-2304)CGA>CAA		SLIT and NTRK-like family, member 5 precursor							71.0	69.0	69.0					13																	88329946		2203	4297	6500	SO:0001583	missense	26050					integral to membrane		g.chr13:88329946G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2303G>A	13.37:g.88329946G>A	ENSP00000366283:p.Arg768Gln					SLITRK5_uc010tic.1_Missense_Mutation_p.R527Q	p.R768Q	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2522	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		768			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2303G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373917	0.82573	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58797	0.31;0.63	4.85	4.85	0.62838	.	0.248582	0.31624	N	0.007339	T	0.58424	0.2121	L	0.34521	1.04	0.54753	D	0.999989	P;D	0.65815	0.676;0.995	B;P	0.53954	0.155;0.738	T	0.56914	-0.7900	9	.	.	.	-4.4301	15.4675	0.75412	0.0:0.0:1.0:0.0	.	527;768	B4DSH5;O94991	.;SLIK5_HUMAN	Q	768;527	ENSP00000366283:R768Q;ENSP00000442244:R527Q	.	R	+	2	0	SLITRK5	87127947	0.848000	0.29623	0.977000	0.42913	0.995000	0.86356	4.462000	0.60121	2.224000	0.72417	0.555000	0.69702	CGA		PASS	0.632	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	59	21	59	---	---	---	---
RAP2A	5911	broad.mit.edu	37	13	98086847	98086847	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr13:98086847C>T	ENST00000245304.4	+	1	372	c.123C>T	c.(121-123)cgC>cgT	p.R41R		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	41					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R41R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACTTCTACCGCAAGGAGATCG	0.622																																						uc001vnd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(121-123)CGC>CGT		RAP2A, member of RAS oncogene family precursor							114.0	107.0	109.0					13																	98086847		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086847C>T	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.123C>T	13.37:g.98086847C>T							p.R41R	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	373	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		41					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.123C>T	CCDS9485.1																																																																																				PASS	0.622	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			24	93	24	93	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20864868	20864868	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:20864868A>T	ENST00000262715.5	-	10	1611	c.1571T>A	c.(1570-1572)aTg>aAg	p.M524K	TEP1_ENST00000556935.1_Missense_Mutation_p.M416K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	524	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.M524K(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGCATGGCCATGAAGGGAAG	0.522																																						uc001vxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1570-1572)ATG>AAG		telomerase-associated protein 1							98.0	84.0	89.0					14																	20864868		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20864868A>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1571T>A	14.37:g.20864868A>T	ENSP00000262715:p.Met524Lys					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.M416K	p.M524K	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	10	1611	-	all_cancers(95;0.00123)	all_lung(585;0.235)	524			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1571T>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056857	0.76074	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.17213	2.29;2.29	5.59	5.59	0.84812	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.53443	-0.8438	10	0.72032	D	0.01	-22.2974	14.759	0.69590	1.0:0.0:0.0:0.0	.	416;524	G3V5X7;Q99973	.;TEP1_HUMAN	K	524;524;416	ENSP00000262715:M524K;ENSP00000452574:M416K	ENSP00000262715:M524K	M	-	2	0	TEP1	19934708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.549000	0.73900	2.137000	0.66172	0.533000	0.62120	ATG		PASS	0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		10	25	10	25	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21542484	21542484	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:21542484A>T	ENST00000298694.4	+	3	722	c.595A>T	c.(595-597)Agt>Tgt	p.S199C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S199C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	199						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S199C(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACATCAGCCAAGTACACTGCC	0.622																																						uc001vzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)AGT>TGT		hypothetical protein LOC55701							60.0	57.0	58.0					14																	21542484		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542484A>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.595A>T	14.37:g.21542484A>T	ENSP00000298694:p.Ser199Cys					FLJ10357_uc001vzn.1_Missense_Mutation_p.S199C|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Translation_Start_Site	p.S199C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	3	624	+	all_cancers(95;0.00185)		199					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.595A>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613037	0.46631	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02890	4.19;4.12	4.5	2.13	0.27403	.	0.242007	0.29752	N	0.011300	T	0.03390	0.0098	N	0.14661	0.345	0.27319	N	0.957086	P;D	0.63046	0.947;0.992	B;P	0.55999	0.417;0.789	T	0.36480	-0.9746	10	0.66056	D	0.02	.	4.887	0.13708	0.7413:0.0:0.2587:0.0	.	199;199	Q8TER5;G3V3N2	ARH40_HUMAN;.	C	199	ENSP00000298694:S199C;ENSP00000298693:S199C	ENSP00000298693:S199C	S	+	1	0	ARHGEF40	20612324	0.000000	0.05858	0.999000	0.59377	0.786000	0.44442	0.209000	0.17435	0.780000	0.33566	0.459000	0.35465	AGT		PASS	0.622	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			14	35	14	35	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21883988	21883988	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:21883988C>T	ENST00000557364.1	-	6	2058	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	CHD8_ENST00000430710.3_Missense_Mutation_p.E320K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.E599K			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	599					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.E599K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACCTCTTCTTCTTCTTCATCA	0.433																																						uc001was.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(958-960)GAA>AAA		chromodomain helicase DNA binding protein 8							239.0	225.0	230.0					14																	21883988		1906	4120	6026	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21883988C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1795G>A	14.37:g.21883988C>T	ENSP00000451601:p.Glu599Lys					CHD8_uc001war.1_Missense_Mutation_p.E216K	p.E320K	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	6	1052	-	all_cancers(95;0.00121)		599					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.958G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913339	0.72983	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.65549	-0.16;-0.16;-0.16	4.99	4.99	0.66335	.	0.054643	0.64402	D	0.000001	T	0.49184	0.1542	N	0.19112	0.55	0.58432	D	0.999994	B	0.20887	0.049	B	0.20184	0.028	T	0.40887	-0.9539	10	0.33141	T	0.24	-16.4546	17.1982	0.86899	0.0:1.0:0.0:0.0	.	320	Q9HCK8-2	.	K	320;599;319;599	ENSP00000406288:E320K;ENSP00000382863:E599K;ENSP00000451601:E599K	ENSP00000262707:E319K	E	-	1	0	CHD8	20953828	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.215000	0.58534	2.594000	0.87642	0.655000	0.94253	GAA		PASS	0.433	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		45	120	45	120	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868085	23868085	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:23868085G>C	ENST00000356287.3	-	14	1772	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	MYH6_ENST00000405093.3_Missense_Mutation_p.I581M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	581	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)	p.I581M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGGCGTAGTGGATCAGGGAGA	0.547																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1741-1743)ATC>ATG		myosin heavy chain 6							229.0	177.0	195.0					14																	23868085		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868085G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1743C>G	14.37:g.23868085G>C	ENSP00000348634:p.Ile581Met						p.I581M	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1810	-	all_cancers(95;2.54e-05)		581			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1743C>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	4.163	0.028686	0.08054	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87334	-2.24;-2.24	4.61	-1.48	0.08745	Myosin head, motor domain (2);	.	.	.	.	D	0.82976	0.5154	L	0.55481	1.735	0.26374	N	0.976847	B	0.06786	0.001	B	0.19666	0.026	T	0.73254	-0.4041	9	0.51188	T	0.08	.	11.1645	0.48535	0.0:0.5143:0.3002:0.1855	.	581	P13533	MYH6_HUMAN	M	581	ENSP00000386041:I581M;ENSP00000348634:I581M	ENSP00000348634:I581M	I	-	3	3	MYH6	22937925	0.000000	0.05858	0.931000	0.37212	0.086000	0.17979	-3.646000	0.00404	0.072000	0.16694	-0.211000	0.12701	ATC		PASS	0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			29	92	29	92	---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35482666	35482666	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:35482666G>C	ENST00000556994.1	+	10	1148	c.751G>C	c.(751-753)Gat>Cat	p.D251H	SRP54_ENST00000216774.6_Missense_Mutation_p.D251H|SRP54_ENST00000546080.1_Missense_Mutation_p.D202H|SRP54_ENST00000555557.1_Missense_Mutation_p.D187H			P61011	SRP54_HUMAN	signal recognition particle 54kDa	251	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.D251H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GACAAAACTTGATGGCCATGC	0.433																																						uc001wso.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)GAT>CAT		signal recognition particle 54kDa isoform 1							184.0	164.0	171.0					14																	35482666		2203	4300	6503	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35482666G>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.751G>C	14.37:g.35482666G>C	ENSP00000451818:p.Asp251His					SRP54_uc010tpp.1_Missense_Mutation_p.D202H|SRP54_uc010tpq.1_Missense_Mutation_p.D187H	p.D251H	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	9	1102	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		251			GTP (By similarity).|G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.751G>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941364	0.92526	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.043818	0.85682	D	0.000000	D	0.91243	0.7240	H	0.99464	4.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.939	D	0.94930	0.8081	9	0.87932	D	0	-24.3102	17.5804	0.87966	0.0:0.0:1.0:0.0	.	202;251	B4DUW6;P61011	.;SRP54_HUMAN	H	251;251;202;187	.	ENSP00000216774:D251H	D	+	1	0	SRP54	34552417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.586000	0.87340	0.655000	0.94253	GAT		PASS	0.433	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		35	112	35	112	---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50089211	50089211	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:50089211G>C	ENST00000305386.2	+	1	1723	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	409					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)	p.E409Q(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATGTTTCCAGAAACTCTAAC	0.403																																						uc001wwr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GAA>CAA		mannosyl (alpha-1,6-)-glycoprotein							52.0	55.0	54.0					14																	50089211		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50089211G>C	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.1225G>C	14.37:g.50089211G>C	ENSP00000307423:p.Glu409Gln					SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	p.E409Q	NM_002408	NP_002399	Q10469	MGAT2_HUMAN			1	1723	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		409			Lumenal (Potential).		B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.1225G>C	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	2.522	-0.310451	0.05458	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.88664	-2.41	6.14	5.08	0.68730	.	0.217307	0.46758	D	0.000270	D	0.82426	0.5034	N	0.24115	0.695	0.31834	N	0.624392	B	0.19200	0.034	B	0.25759	0.063	T	0.76677	-0.2871	10	0.21540	T	0.41	-15.7849	16.4523	0.83996	0.072:0.0:0.928:0.0	.	409	Q10469	MGAT2_HUMAN	Q	409;415	ENSP00000307423:E409Q	ENSP00000307423:E409Q	E	+	1	0	MGAT2	49158961	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	4.606000	0.61126	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.403	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		5	90	5	90	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51227052	51227052	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:51227052T>A	ENST00000382041.3	-	17	2112	c.1922A>T	c.(1921-1923)gAc>gTc	p.D641V	NIN_ENST00000530997.2_Missense_Mutation_p.D641V|NIN_ENST00000453196.1_Missense_Mutation_p.D641V|NIN_ENST00000389868.3_Missense_Mutation_p.D641V|NIN_ENST00000382043.4_Missense_Mutation_p.D641V|NIN_ENST00000245441.5_Missense_Mutation_p.D641V|NIN_ENST00000324330.9_Missense_Mutation_p.D641V	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	641					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D641V(2)|p.D647V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CACGGTTTCGTCCAGCTGCTT	0.458			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1921-1923)GAC>GTC		ninein isoform 5							50.0	53.0	52.0					14																	51227052		2176	4257	6433	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51227052T>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1922A>T	14.37:g.51227052T>A	ENSP00000371472:p.Asp641Val					NIN_uc001wyi.2_Missense_Mutation_p.D641V|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.D641V|NIN_uc010tqp.1_Missense_Mutation_p.D647V|NIN_uc001wyo.2_Missense_Mutation_p.D641V	p.D641V	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			17	2113	-	all_epithelial(31;0.00244)|Breast(41;0.127)		641			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1922A>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408146	0.42715	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.14022	3.27;2.54;2.55;3.01;3.0;3.01	5.93	4.76	0.60689	.	0.330631	0.36740	N	0.002438	T	0.25195	0.0612	M	0.69823	2.125	0.58432	D	0.999996	B;P;P;P;P	0.47350	0.313;0.894;0.525;0.498;0.465	B;P;B;B;B	0.48982	0.076;0.597;0.296;0.231;0.124	T	0.01249	-1.1406	10	0.59425	D	0.04	-8.1844	12.4467	0.55654	0.0:0.0:0.1402:0.8598	.	647;641;641;641;641	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	V	641;624;641;641;647;641;641;641	ENSP00000245441:D641V;ENSP00000374518:D641V;ENSP00000371474:D641V;ENSP00000371472:D641V;ENSP00000324210:D641V;ENSP00000412391:D641V	ENSP00000245441:D641V	D	-	2	0	NIN	50296802	0.974000	0.33945	0.904000	0.35570	0.034000	0.12701	2.777000	0.47717	1.039000	0.40074	0.482000	0.46254	GAC		PASS	0.458	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		33	90	33	90	---	---	---	---
PIGH	5283	broad.mit.edu	37	14	68059354	68059354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:68059354G>A	ENST00000216452.4	-	3	555	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	PIGH_ENST00000559581.1_Nonsense_Mutation_p.Q119*|PIGH_ENST00000560722.1_Nonsense_Mutation_p.Q157*	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	158					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.Q158*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		ATGCTCACCTGGAAGACGGGT	0.383																																						uc001xjr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(472-474)CAG>TAG		phosphatidylinositol glycan anchor biosynthesis,							98.0	91.0	94.0					14																	68059354		2203	4300	6503	SO:0001587	stop_gained	5283				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr14:68059354G>A		CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.472C>T	14.37:g.68059354G>A	ENSP00000216452:p.Gln158*						p.Q158*	NM_004569	NP_004560	Q14442	PIGH_HUMAN		all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)	3	569	-			158					B2RAA4	Nonsense_Mutation	SNP	ENST00000216452.4	37	c.472C>T	CCDS9784.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148485	0.94603	.	.	ENSG00000100564	ENST00000216452	.	.	.	4.57	4.57	0.56435	.	0.058640	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	17.0345	0.86470	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000216452:Q158X	Q	-	1	0	PIGH	67129107	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.135000	0.94478	2.469000	0.83416	0.655000	0.94253	CAG		PASS	0.383	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569		30	66	30	66	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:75514890G>T	ENST00000556740.1	-	1	1504	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	MLH3_ENST00000556257.1_Missense_Mutation_p.S490Y|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S490Y|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.S490Y			Q9UHC1	MLH3_HUMAN	mutL homolog 3	490					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S490Y(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1468-1470)TCT>TAT	MMR	mutL homolog 3 isoform 1							90.0	97.0	95.0					14																	75514890		2203	4299	6502	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514890G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1469C>A	14.37:g.75514890G>T	ENSP00000452316:p.Ser490Tyr					MLH3_uc001xre.1_Missense_Mutation_p.S490Y|MLH3_uc010tuy.1_RNA	p.S490Y	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1685	-			490					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1469C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	1.967	-0.437498	0.04636	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83419	-1.62;-1.66;-1.72;-1.62	5.34	-0.28	0.12886	.	1.749140	0.02828	N	0.126415	T	0.78698	0.4324	L	0.56769	1.78	0.09310	N	0.999997	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.57619	-0.7780	10	0.59425	D	0.04	0.3633	2.4863	0.04600	0.2139:0.342:0.3276:0.1165	.	490;490	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Y	490	ENSP00000348020:S490Y;ENSP00000238662:S490Y;ENSP00000451540:S490Y;ENSP00000452316:S490Y	ENSP00000238662:S490Y	S	-	2	0	MLH3	74584643	0.000000	0.05858	0.121000	0.21740	0.448000	0.32197	0.167000	0.16602	-0.075000	0.12798	-0.291000	0.09656	TCT		PASS	0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		109	94	109	94	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77945036	77945036	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:77945036C>G	ENST00000342219.4	-	5	1052	c.996G>C	c.(994-996)tgG>tgC	p.W332C	ISM2_ENST00000393684.3_Missense_Mutation_p.W244C|ISM2_ENST00000429906.1_Missense_Mutation_p.W251C|ISM2_ENST00000493585.1_Missense_Mutation_p.G217A|ISM2_ENST00000412904.1_Missense_Mutation_p.W251C	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	332	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)		p.W332C(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGGGACTCCACTCCTTCT	0.582																																						uc001xtz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(994-996)TGG>TGC		isthmin 2 homolog isoform 1							95.0	89.0	92.0					14																	77945036		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77945036C>G	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.996G>C	14.37:g.77945036C>G	ENSP00000341490:p.Trp332Cys					ISM2_uc001xua.2_Missense_Mutation_p.G217A|ISM2_uc001xty.2_Missense_Mutation_p.W244C|ISM2_uc010tvl.1_Missense_Mutation_p.W251C	p.W332C	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			5	1070	-			332			TSP type-1.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.996G>C	CCDS9864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.27|16.27	3.075630|3.075630	0.55646|0.55646	.|.	.|.	ENSG00000100593|ENSG00000100593	ENST00000493585|ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T|T;T;T;T	0.39787|0.64260	1.06|-0.09;-0.09;-0.09;-0.09	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.068398	.|0.64402	.|D	.|0.000006	T|T	0.81074|0.81074	0.4747|0.4747	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|D;D	0.89917|0.89917	1.0|1.0;1.0	D|D;D	0.85130|0.87578	0.997|0.983;0.998	D|D	0.83956|0.83956	0.0319|0.0319	8|9	0.44086|0.87932	T|D	0.13|0	-19.4866|-19.4866	18.5971|18.5971	0.91232|0.91232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217|251;332	Q6H9L7-2|Q6H9L7-5;Q6H9L7	.|.;ISM2_HUMAN	A|C	217|332;251;251;244	ENSP00000420452:G217A|ENSP00000341490:W332C;ENSP00000416773:W251C;ENSP00000395387:W251C;ENSP00000377289:W244C	ENSP00000420452:G217A|ENSP00000341490:W332C	G|W	-|-	2|3	0|0	ISM2|ISM2	77014789|77014789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.192000|0.192000	0.23643|0.23643	7.591000|7.591000	0.82666|0.82666	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.582	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		26	71	26	71	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93118071	93118071	+	Missense_Mutation	SNP	C	C	T	rs201944996		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:93118071C>T	ENST00000216487.7	+	6	836	c.677C>T	c.(676-678)tCg>tTg	p.S226L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	226					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S226L(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ATCGAGCTGTCGGTAGGAAAT	0.602																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(676-678)TCG>TTG		Ras and Rab interactor 3							115.0	111.0	112.0					14																	93118071		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118071C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.677C>T	14.37:g.93118071C>T	ENSP00000216487:p.Ser226Leu					RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.S151L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.S226L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	829	+		all_cancers(154;0.0701)	226					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.677C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908129	0.72868	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.35973	1.28	5.24	5.24	0.73138	.	0.189766	0.38058	N	0.001821	T	0.57607	0.2065	M	0.61703	1.905	0.80722	D	1	D;P	0.71674	0.998;0.571	D;B	0.63877	0.919;0.105	T	0.60934	-0.7164	10	0.87932	D	0	-13.1847	18.886	0.92378	0.0:1.0:0.0:0.0	.	151;226	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	L	226	ENSP00000216487:S226L	ENSP00000216487:S226L	S	+	2	0	RIN3	92187824	1.000000	0.71417	0.038000	0.18304	0.662000	0.39071	6.552000	0.73914	2.491000	0.84063	0.306000	0.20318	TCG		PASS	0.602	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			9	90	9	90	---	---	---	---
BDKRB1	623	broad.mit.edu	37	14	96730239	96730239	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr14:96730239A>G	ENST00000216629.6	+	3	826	c.220A>G	c.(220-222)Atc>Gtc	p.I74V	BDKRB1_ENST00000553356.1_Missense_Mutation_p.I74V|RP11-404P21.8_ENST00000553811.1_3'UTR|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	74					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.I74V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CGTGGCAGAAATCTACCTGGC	0.532																																						uc001yfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(220-222)ATC>GTC		bradykinin receptor B1							83.0	80.0	81.0					14																	96730239		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730239A>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.220A>G	14.37:g.96730239A>G	ENSP00000216629:p.Ile74Val					BDKRB1_uc010avn.2_Missense_Mutation_p.I74V	p.I74V	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	428	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	74			Helical; Name=2; (Potential).		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.220A>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548908	0.45383	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.72725	-0.68;-0.68	5.28	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.062619	0.64402	U	0.000007	T	0.71550	0.3353	L	0.41824	1.3	0.39318	D	0.965204	D;D	0.59767	0.986;0.968	P;P	0.56865	0.808;0.71	T	0.69405	-0.5154	10	0.32370	T	0.25	-26.6323	11.5213	0.50553	0.8496:0.1504:0.0:0.0	.	74;74	G3V4Y2;P46663	.;BKRB1_HUMAN	V	74	ENSP00000216629:I74V;ENSP00000452064:I74V	ENSP00000216629:I74V	I	+	1	0	BDKRB1	95799992	1.000000	0.71417	0.989000	0.46669	0.362000	0.29581	3.485000	0.53208	0.832000	0.34804	0.397000	0.26171	ATC		PASS	0.532	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			59	39	59	39	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22368615	22368615	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:22368615C>G	ENST00000332663.2	+	1	138	c.40C>G	c.(40-42)Ctc>Gtc	p.L14V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAATTTGTTCTCACTGGCCT	0.333																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)CTC>GTC		olfactory receptor, family 4, subfamily M,							239.0	212.0	222.0					15																	22368615		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368615C>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.40C>G	15.37:g.22368615C>G	ENSP00000329467:p.Leu14Val					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.L14V	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	40	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	14			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.40C>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.639856	0.29157	.	.	ENSG00000182974	ENST00000332663	T	0.00563	6.58	2.5	2.5	0.30297	.	0.000000	0.42420	D	0.000712	T	0.02929	0.0087	H	0.95294	3.65	0.26960	N	0.96583	D	0.67145	0.996	D	0.66979	0.948	T	0.04825	-1.0924	10	0.72032	D	0.01	-17.4689	10.8078	0.46529	0.0:1.0:0.0:0.0	.	14	Q8NGB6	OR4M2_HUMAN	V	14	ENSP00000329467:L14V	ENSP00000329467:L14V	L	+	1	0	OR4M2	19869979	0.668000	0.27493	1.000000	0.80357	0.646000	0.38490	0.503000	0.22610	1.422000	0.47177	0.448000	0.29417	CTC		PASS	0.333	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			90	455	90	455	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34130624	34130624	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:34130624C>A	ENST00000389232.4	+	89	12513	c.12443C>A	c.(12442-12444)tCt>tAt	p.S4148Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S4143Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4148					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.S4147Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTGTGCCTCTGTGAAGAGG	0.498																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12442-12444)TCT>TAT		ryanodine receptor 3							106.0	108.0	107.0					15																	34130624		1914	4115	6029	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130624C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12443C>A	15.37:g.34130624C>A	ENSP00000373884:p.Ser4148Tyr					RYR3_uc010bar.2_Missense_Mutation_p.S4143Y	p.S4148Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12513	+		all_lung(180;7.18e-09)	4148			Helical; Name=M3; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12443C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661710	0.29515	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96745	-4.11	5.62	5.62	0.85841	.	0.083305	0.51477	D	0.000100	D	0.97623	0.9221	M	0.80982	2.52	0.50313	D	0.999862	D;P	0.55385	0.971;0.903	P;P	0.55222	0.771;0.594	D	0.97799	1.0243	10	0.59425	D	0.04	.	19.6546	0.95831	0.0:1.0:0.0:0.0	.	4143;4148	Q15413-2;Q15413	.;RYR3_HUMAN	Y	4148;4144	ENSP00000373884:S4148Y	ENSP00000354735:S4144Y	S	+	2	0	RYR3	31917916	1.000000	0.71417	0.289000	0.24876	0.035000	0.12851	7.562000	0.82300	2.644000	0.89710	0.563000	0.77884	TCT		PASS	0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			59	80	59	80	---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40590445	40590445	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:40590445C>G	ENST00000260402.3	-	11	1383	c.1134G>C	c.(1132-1134)atG>atC	p.M378I	PLCB2_ENST00000456256.2_Missense_Mutation_p.M378I|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.M378I	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	378	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.M378I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGTCTGTGGTCATGGTGAAGC	0.607																																						uc001zld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(1132-1134)ATG>ATC		phospholipase C, beta 2							61.0	67.0	65.0					15																	40590445		2116	4265	6381	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590445C>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1134G>C	15.37:g.40590445C>G	ENSP00000260402:p.Met378Ile					PLCB2_uc010bbo.2_Missense_Mutation_p.M378I|PLCB2_uc010ucm.1_Missense_Mutation_p.M378I	p.M378I	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	11	1435	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	378			PI-PLC X-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1134G>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007668	0.93287	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.63744	-0.06;-0.06	4.53	4.53	0.55603	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.85777	2.775	0.80722	D	1	P;B;P	0.44478	0.836;0.393;0.774	P;B;P	0.54238	0.592;0.354;0.746	T	0.82756	-0.0300	10	0.87932	D	0	.	17.8023	0.88591	0.0:1.0:0.0:0.0	.	378;378;378	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	I	378	ENSP00000260402:M378I;ENSP00000411991:M378I	ENSP00000260402:M378I	M	-	3	0	PLCB2	38377737	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.519000	0.84933	0.563000	0.77884	ATG		PASS	0.607	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			22	52	22	52	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40627441	40627441	+	Missense_Mutation	SNP	G	G	T	rs572485964		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:40627441G>T	ENST00000559313.1	-	11	1538	c.1523C>A	c.(1522-1524)aCg>aAg	p.T508K	C15orf52_ENST00000397536.2_Missense_Mutation_p.T298K	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	508							poly(A) RNA binding (GO:0044822)	p.T508K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCTCCTCTCGTGGGCCGGCT	0.682																																						uc001zlh.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1522-1524)ACG>AAG		hypothetical protein LOC388115							80.0	95.0	90.0					15																	40627441		2202	4299	6501	SO:0001583	missense	388115							g.chr15:40627441G>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1523C>A	15.37:g.40627441G>T	ENSP00000453969:p.Thr508Lys					C15orf52_uc010ucn.1_Missense_Mutation_p.T298K	p.T508K	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	11	1539	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	508					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.1523C>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560849	0.13498	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.16	2.26	0.28386	.	0.606327	0.16196	N	0.225147	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.002	B;B	0.22601	0.04;0.001	T	0.18713	-1.0328	9	0.72032	D	0.01	2.0E-4	7.1069	0.25368	0.2558:0.0:0.7442:0.0	.	298;508	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	K	508;298	.	ENSP00000372135:T508K	T	-	2	0	C15orf52	38414733	0.015000	0.18098	0.459000	0.27081	0.004000	0.04260	1.169000	0.31871	0.576000	0.29452	0.462000	0.41574	ACG		PASS	0.682	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		105	196	105	196	---	---	---	---
IVD	3712	broad.mit.edu	37	15	40705252	40705252	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:40705252C>A	ENST00000249760.2	+	7	1093	c.750C>A	c.(748-750)acC>acA	p.T250T	IVD_ENST00000479013.2_Silent_p.T223T|IVD_ENST00000487418.2_Silent_p.T253T	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	250					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.T250T(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GCTCTAACACCTGTGAGCTAA	0.522																																					GBM(31;293 617 7486 32527 34655)	uc001zls.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(757-759)ACC>ACA		isovaleryl Coenzyme A dehydrogenase isoform 1							101.0	95.0	97.0					15																	40705252		2203	4300	6503	SO:0001819	synonymous_variant	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40705252C>A	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.750C>A	15.37:g.40705252C>A						IVD_uc001zlq.2_Silent_p.T223T|IVD_uc001zlr.2_5'Flank	p.T253T	NM_002225	NP_002216	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	7	1093	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	250					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Silent	SNP	ENST00000249760.2	37	c.759C>A		.	.	.	.	.	.	.	.	.	.	C	9.417	1.081956	0.20309	.	.	ENSG00000128928	ENST00000473112	.	.	.	5.66	3.8	0.43715	.	.	.	.	.	T	0.61763	0.2373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57843	-0.7741	4	.	.	.	.	10.9135	0.47122	0.1309:0.802:0.0:0.0671	.	.	.	.	H	170	.	.	P	+	2	0	IVD	38492544	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.297000	0.43593	0.771000	0.33359	-0.189000	0.12847	CCT		PASS	0.522	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	50	14	50	---	---	---	---
VPS39	23339	broad.mit.edu	37	15	42481356	42481356	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:42481356C>T	ENST00000348544.4	-	6	330	c.331G>A	c.(331-333)Gtt>Att	p.V111I	VPS39_ENST00000568357.1_5'Flank|VPS39_ENST00000318006.5_Missense_Mutation_p.V100I			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	111	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.V100I(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCCTTTGAAACCGTAGTGATT	0.368																																						uc001zpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(331-333)GTT>ATT		vacuolar protein sorting 39							208.0	174.0	185.0					15																	42481356		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42481356C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.331G>A	15.37:g.42481356C>T	ENSP00000335193:p.Val111Ile					VPS39_uc001zpc.2_Missense_Mutation_p.V100I	p.V111I	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	482	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	111			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.331G>A	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349166	0.41599	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.04360	3.64;3.64	5.92	5.92	0.95590	Citron-like (2);	0.121052	0.56097	D	0.000039	T	0.03011	0.0089	N	0.12887	0.27	0.45648	D	0.998571	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.50338	-0.8840	10	0.09843	T	0.71	-15.0625	11.5575	0.50757	0.0:0.8633:0.0:0.1367	.	111;100	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	I	100;111	ENSP00000326534:V100I;ENSP00000335193:V111I	ENSP00000326534:V100I	V	-	1	0	VPS39	40268648	0.998000	0.40836	0.743000	0.31040	0.986000	0.74619	3.907000	0.56348	2.822000	0.97130	0.650000	0.86243	GTT		PASS	0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		16	80	16	80	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65490998	65490998	+	Silent	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:65490998C>A	ENST00000261883.4	-	9	1792	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	542					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.V542V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCAGCCTGTCCACAAATGTGA	0.512																																						uc002aon.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(1624-1626)GTG>GTT		cartilage intermediate layer protein							68.0	64.0	65.0					15																	65490998		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490998C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1626G>T	15.37:g.65490998C>A							p.V542V	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1807	-			542					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.1626G>T	CCDS10203.1																																																																																				PASS	0.512	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		31	49	31	49	---	---	---	---
ZWILCH	55055	broad.mit.edu	37	15	66797698	66797698	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:66797698G>T	ENST00000307897.5	+	1	402	c.22G>T	c.(22-24)Gca>Tca	p.A8S	RPL4_ENST00000307961.6_5'Flank|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_5'UTR|RPL4_ENST00000568588.1_5'UTR|ZWILCH_ENST00000565627.1_5'UTR|SNORD18A_ENST00000363753.1_RNA|SNORD16_ENST00000362803.1_RNA	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	8					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.A8S(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GCTGAACTGCGCAGCAGAGGA	0.607																																						uc002aqb.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)	1						c.(22-24)GCA>TCA		Zwilch							99.0	104.0	103.0					15																	66797698		2201	4299	6500	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66797698G>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.22G>T	15.37:g.66797698G>T	ENSP00000311429:p.Ala8Ser					RPL4_uc002apv.2_5'Flank|RPL4_uc010bhr.2_5'Flank|RPL4_uc002apw.2_5'Flank|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_5'Flank|SNORD16_uc010bht.2_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'UTR|ZWILCH_uc002aqa.2_5'UTR|ZWILCH_uc010bhv.2_5'UTR	p.A8S	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			1	268	+			8					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.22G>T	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405839	0.83230	.	.	ENSG00000174442	ENST00000307897	T	0.47869	0.83	5.42	5.42	0.78866	.	0.173935	0.49305	D	0.000149	T	0.58352	0.2116	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.60515	-0.7248	10	0.87932	D	0	-14.9094	15.0666	0.71999	0.0:0.0:1.0:0.0	.	8	Q9H900	ZWILC_HUMAN	S	8	ENSP00000311429:A8S	ENSP00000311429:A8S	A	+	1	0	ZWILCH	64584752	0.463000	0.25799	0.052000	0.19188	0.004000	0.04260	2.774000	0.47694	2.699000	0.92147	0.561000	0.74099	GCA		PASS	0.607	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		41	144	41	144	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72954811	72954811	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:72954811G>A	ENST00000421285.3	+	11	1066	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	356						Golgi apparatus (GO:0005794)		p.E356K(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAGTGCGGGAGCAGGAGAG	0.567																																						uc010uks.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GAG>AAG		golgi autoantigen, golgin subfamily a, 6B							64.0	66.0	65.0					15																	72954811		2062	3865	5927	SO:0001583	missense	55889							g.chr15:72954811G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1066G>A	15.37:g.72954811G>A	ENSP00000408132:p.Glu356Lys						p.E356K	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	1107	+			356			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1066G>A	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.247150	0.01481	.	.	ENSG00000215186	ENST00000421285	T	0.06294	3.32	.	.	.	.	.	.	.	.	T	0.06050	0.0157	M	0.76170	2.325	0.21020	N	0.999807	B	0.23185	0.081	B	0.17433	0.018	T	0.48864	-0.8997	8	0.05721	T	0.95	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	356	A6NDN3	GOG6B_HUMAN	K	356	ENSP00000408132:E356K	ENSP00000408132:E356K	E	+	1	0	GOLGA6B	70741865	0.837000	0.29446	0.153000	0.22517	0.060000	0.15804	0.287000	0.18920	0.088000	0.17205	0.089000	0.15464	GAG		PASS	0.567	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		87	430	87	430	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73547047	73547047	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:73547047C>A	ENST00000339362.5	+	14	2416	c.1969C>A	c.(1969-1971)Cct>Act	p.P657T	NEO1_ENST00000560262.1_Missense_Mutation_p.P657T|NEO1_ENST00000261908.6_Missense_Mutation_p.P657T|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Missense_Mutation_p.P657T			Q92859	NEO1_HUMAN	neogenin 1	657	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P657T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTGGCAGCCACCTGCTCCAGC	0.433																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1969-1971)CCT>ACT		neogenin homolog 1 precursor							124.0	125.0	125.0					15																	73547047		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73547047C>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1969C>A	15.37:g.73547047C>A	ENSP00000341198:p.Pro657Thr					NEO1_uc010ukx.1_Missense_Mutation_p.P657T|NEO1_uc010uky.1_Missense_Mutation_p.P657T|NEO1_uc010ukz.1_Missense_Mutation_p.P81T|NEO1_uc002avn.3_Missense_Mutation_p.P322T	p.P657T	NM_002499	NP_002490	Q92859	NEO1_HUMAN			13	2111	+			657			Extracellular (Potential).|Fibronectin type-III 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1969C>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.815198	0.90790	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.74632	-0.86;-0.86	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.100673	0.64402	D	0.000001	D	0.91610	0.7349	H	0.97390	3.995	0.80722	D	1	P;D;B;D	0.67145	0.793;0.992;0.198;0.996	D;D;D;D	0.85130	0.92;0.997;0.968;0.993	D	0.94546	0.7749	10	0.87932	D	0	-13.286	18.8283	0.92127	0.0:1.0:0.0:0.0	.	657;657;395;657	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	657;395;657	ENSP00000341198:P657T;ENSP00000261908:P657T	ENSP00000261908:P657T	P	+	1	0	NEO1	71334100	1.000000	0.71417	0.978000	0.43139	0.957000	0.61999	7.769000	0.85360	2.438000	0.82558	0.655000	0.94253	CCT		PASS	0.433	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		30	196	30	196	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82574517	82574517	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr15:82574517A>C	ENST00000339465.5	+	3	380	c.311A>C	c.(310-312)tAc>tCc	p.Y104S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.Y89S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	104								p.Y104S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GAACAAACTTACCACCCGCCT	0.363																																						uc002bgv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(310-312)TAC>TCC		hypothetical protein LOC283726							91.0	96.0	94.0					15																	82574517		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82574517A>C	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.311A>C	15.37:g.82574517A>C	ENSP00000340445:p.Tyr104Ser					FAM154B_uc010unr.1_Missense_Mutation_p.Y89S|FAM154B_uc010uns.1_RNA	p.Y104S	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	380	+			104					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.311A>C	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	A	8.362	0.833279	0.16820	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.19669	2.13;2.13	3.01	1.87	0.25490	.	0.092317	0.45126	D	0.000393	T	0.45074	0.1324	M	0.83603	2.65	0.38114	D	0.937668	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.42749	-0.9433	10	0.38643	T	0.18	-12.8302	10.9689	0.47428	0.8573:0.0:0.0:0.1427	.	89;104	B4E2M2;Q658L1	.;F154B_HUMAN	S	104;89	ENSP00000340445:Y104S;ENSP00000403743:Y89S	ENSP00000340445:Y104S	Y	+	2	0	FAM154B	80361572	0.999000	0.42202	0.058000	0.19502	0.052000	0.14988	4.557000	0.60782	0.094000	0.17404	-2.294000	0.00264	TAC		PASS	0.363	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		8	318	8	318	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2350063	2350063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:2350063G>C	ENST00000301732.5	-	13	2254	c.1554C>G	c.(1552-1554)taC>taG	p.Y518*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.Y460*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	518					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.Y518*(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGGCTTCAAAGTACTCGTTTC	0.617																																						uc002cpy.1																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(1552-1554)TAC>TAG		ATP-binding cassette, sub-family A member 3							155.0	137.0	143.0					16																	2350063		2198	4300	6498	SO:0001587	stop_gained	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2350063G>C	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1554C>G	16.37:g.2350063G>C	ENSP00000301732:p.Tyr518*					ABCA3_uc010bsk.1_Nonsense_Mutation_p.Y460*|ABCA3_uc010bsl.1_Nonsense_Mutation_p.Y518*	p.Y518*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			13	2266	-		Ovarian(90;0.17)	518					B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	c.1554C>G	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	40	8.474953	0.98827	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.91	0.633	0.17712	.	0.465316	0.25319	N	0.031540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.682	0.40076	0.4085:0.0:0.5915:0.0	.	.	.	.	X	518;522	.	ENSP00000301732:Y518X	Y	-	3	2	ABCA3	2290064	1.000000	0.71417	0.888000	0.34837	0.074000	0.17049	2.640000	0.46579	0.139000	0.18822	-0.742000	0.03525	TAC		PASS	0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		106	91	106	91	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3593454	3593454	+	RNA	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:3593454C>T	ENST00000301749.7	-	0	3315				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L1016L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTTCACAGCCAAGGCTTCCC	0.532																																						uc010btn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(2908-2910)TTG>TTA		NOD3 protein							39.0	43.0	42.0					16																	3593454		1943	4147	6090			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3593454C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3593454C>T							p.L970L	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			18	3321	-			970					Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.2910G>A																																																																																					PASS	0.532	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		7	16	7	16	---	---	---	---
TNFRSF17	608	broad.mit.edu	37	16	12061699	12061699	+	Silent	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:12061699A>C	ENST00000053243.1	+	3	768	c.550A>C	c.(550-552)Agg>Cgg	p.R184R	TNFRSF17_ENST00000396495.3_Silent_p.R135R|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	184					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R184R(1)		large_intestine(3)|lung(3)	6						AATTTCTGCTAGGTAATTAAC	0.413			T	IL2	intestinal T-cell lymphoma																																	uc002dbv.2				Dom	yes		16	16p13.1	608	T	"""tumor necrosis factor receptor superfamily, member 17"""			L	IL2		intestinal T-cell lymphoma		1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)AGG>CGG		tumor necrosis factor receptor superfamily,							73.0	69.0	71.0					16																	12061699		2197	4300	6497	SO:0001819	synonymous_variant	608				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane		g.chr16:12061699A>C	Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.550A>C	16.37:g.12061699A>C						TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Silent_p.R135R	p.R184R	NM_001192	NP_001183	Q02223	TNR17_HUMAN			3	768	+			184			Cytoplasmic (Potential).		Q2TQ40	Silent	SNP	ENST00000053243.1	37	c.550A>C	CCDS10552.1																																																																																				PASS	0.413	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252062.1			13	64	13	64	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19567052	19567052	+	Start_Codon_SNP	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:19567052A>G	ENST00000251143.5	+	1	13	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	C16orf62_ENST00000417362.2_Start_Codon_SNP_p.M1V|C16orf62_ENST00000538853.1_Missense_Mutation_p.M90V|C16orf62_ENST00000542263.1_Missense_Mutation_p.M90V|C16orf62_ENST00000438132.3_Missense_Mutation_p.M90V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	1						integral component of membrane (GO:0016021)		p.M90V(1)|p.M1V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GACTGGGAAGATGGCCGTCTT	0.617																																						uc002dgn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1-3)ATG>GTG		hypothetical protein LOC57020							85.0	78.0	80.0					16																	19567052		2197	4300	6497	SO:0001582	initiator_codon_variant	57020					integral to membrane		g.chr16:19567052A>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1A>G	16.37:g.19567052A>G	ENSP00000251143:p.Met1Val					C16orf62_uc002dgo.1_Missense_Mutation_p.M1V|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Missense_Mutation_p.M1V	p.M1V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			1	13	+			1					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.1A>G		.	.	.	.	.	.	.	.	.	.	A	16.92	3.256300	0.59321	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.61	4.61	0.57282	.	0.506959	0.21114	N	0.079926	T	0.73969	0.3655	.	.	.	0.80722	D	1	B;B;P	0.43578	0.452;0.452;0.811	P;P;P	0.57846	0.455;0.455;0.828	T	0.76493	-0.2939	9	0.87932	D	0	-7.1059	10.9585	0.47372	1.0:0.0:0.0:0.0	.	90;1;90	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	V	90;90;90;1;1	ENSP00000400815:M90V;ENSP00000444363:M90V;ENSP00000442468:M90V;ENSP00000251143:M1V;ENSP00000395973:M1V	ENSP00000251143:M1V	M	+	1	0	C16orf62	19474553	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.390000	0.52523	2.012000	0.59069	0.459000	0.35465	ATG		PASS	0.617	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Missense_Mutation	12	41	12	41	---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57188238	57188238	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:57188238G>T	ENST00000309137.8	-	7	987	c.729C>A	c.(727-729)tcC>tcA	p.S243S	FAM192A_ENST00000566077.1_Silent_p.S166S|FAM192A_ENST00000567439.1_Silent_p.S243S|FAM192A_ENST00000389447.5_Silent_p.S243S|FAM192A_ENST00000569266.1_Silent_p.S243S|FAM192A_ENST00000564108.1_Silent_p.S243S	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	243						nucleus (GO:0005634)		p.S243S(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCGGAAGATGGAGGAGACAA	0.592																																						uc010vhk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)TCC>TCA		NEFA-interacting nuclear protein NIP30							68.0	80.0	76.0					16																	57188238		2015	4176	6191	SO:0001819	synonymous_variant	80011					nucleus		g.chr16:57188238G>T		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.729C>A	16.37:g.57188238G>T						FAM192A_uc002ekz.3_Silent_p.S242S|FAM192A_uc002ekv.3_Silent_p.S165S|FAM192A_uc002ekw.3_Silent_p.S242S|FAM192A_uc002ekx.3_Silent_p.S242S|FAM192A_uc002eky.3_Silent_p.S242S	p.S243S	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN			7	988	-			243						Silent	SNP	ENST00000309137.8	37	c.729C>A	CCDS42168.1																																																																																				PASS	0.592	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		7	36	7	36	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65016169	65016169	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:65016169C>G	ENST00000268603.4	-	8	1650	c.1035G>C	c.(1033-1035)ttG>ttC	p.L345F	CDH11_ENST00000394156.3_Missense_Mutation_p.L345F|CDH11_ENST00000566827.1_Missense_Mutation_p.L219F	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L345F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCTACCTTCAAGCTATAGG	0.448			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1033-1035)TTG>TTC		cadherin 11, type 2 preproprotein							94.0	77.0	83.0					16																	65016169		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016169C>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1035G>C	16.37:g.65016169C>G	ENSP00000268603:p.Leu345Phe	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.L345F|CDH11_uc010vin.1_Missense_Mutation_p.L219F|CDH11_uc002eok.1_RNA	p.L345F	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1469	-		Ovarian(137;0.0973)	345			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1035G>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213673	0.58452	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.36520	1.25;1.25	5.61	2.57	0.30868	Cadherin (5);Cadherin-like (1);	0.067707	0.64402	D	0.000014	T	0.41351	0.1155	L	0.41027	1.25	0.46396	D	0.999027	D;B	0.63880	0.993;0.036	P;B	0.61658	0.892;0.142	T	0.10382	-1.0632	10	0.25106	T	0.35	.	9.2118	0.37322	0.0:0.7055:0.0:0.2945	.	345;345	P55287-2;P55287	.;CAD11_HUMAN	F	345;345;328	ENSP00000268603:L345F;ENSP00000377711:L345F	ENSP00000268603:L345F	L	-	3	2	CDH11	63573670	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.019000	0.30014	0.851000	0.35264	0.655000	0.94253	TTG		PASS	0.448	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		49	56	49	56	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67298340	67298340	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:67298340G>A	ENST00000299798.11	+	13	1993	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	643					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R643Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AACATGAAGCGGCGGCTGGAG	0.577																																						uc002esm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1927-1929)CGG>CAG		solute carrier family 9 (sodium/hydrogen							34.0	41.0	38.0					16																	67298340		2158	4265	6423	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298340G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1928G>A	16.37:g.67298340G>A	ENSP00000299798:p.Arg643Gln					SLC9A5_uc010cee.2_Missense_Mutation_p.R348Q|SLC9A5_uc010vji.1_Missense_Mutation_p.R147Q	p.R643Q	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	13	1991	+		Ovarian(137;0.0563)	643					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1928G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765611	0.49574	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.57752	0.38	5.33	4.37	0.52481	.	0.202625	0.42172	N	0.000749	T	0.49372	0.1553	L	0.55990	1.75	0.31443	N	0.671663	B;D	0.53462	0.196;0.96	B;B	0.42771	0.031;0.397	T	0.60652	-0.7221	10	0.44086	T	0.13	.	13.6817	0.62489	0.0752:0.0:0.9248:0.0	.	156;643	F8WDV9;Q14940	.;SL9A5_HUMAN	Q	643;156	ENSP00000299798:R643Q	ENSP00000299798:R643Q	R	+	2	0	SLC9A5	65855841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.156000	0.58138	1.385000	0.46445	0.561000	0.74099	CGG		PASS	0.577	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			31	6	31	6	---	---	---	---
THAP11	57215	broad.mit.edu	37	16	67877203	67877203	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:67877203C>G	ENST00000303596.1	+	1	991	c.746C>G	c.(745-747)tCg>tGg	p.S249W	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S249W(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TACTCCTTGTCGTCAGGCACC	0.592																																						uc002euo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)TCG>TGG		THAP domain containing 11							150.0	156.0	154.0					16																	67877203		2198	4300	6498	SO:0001583	missense	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67877203C>G	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.746C>G	16.37:g.67877203C>G	ENSP00000304689:p.Ser249Trp					CENPT_uc002eun.3_Intron	p.S249W	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	991	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	249					A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	c.746C>G	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221750	0.79464	.	.	ENSG00000168286	ENST00000303596	.	.	.	5.96	5.96	0.96718	.	0.064498	0.64402	D	0.000007	T	0.65668	0.2713	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.69098	-0.5235	9	0.87932	D	0	-8.5226	20.0035	0.97427	0.0:1.0:0.0:0.0	.	249	Q96EK4	THA11_HUMAN	W	249	.	ENSP00000304689:S249W	S	+	2	0	THAP11	66434704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.231000	0.78106	2.827000	0.97445	0.609000	0.83330	TCG		PASS	0.592	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		73	347	73	347	---	---	---	---
VAC14	55697	broad.mit.edu	37	16	70834811	70834811	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:70834811G>T	ENST00000261776.5	-	0	253				RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CATGGTGGCAGCTGGGGGAAC	0.701																																						uc002ezm.2																			0				pancreas(1)|skin(1)	2						c.(-9--5)AGCTG>AGATG		Vac14 homolog																																						55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70834811G>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.-8C>A	16.37:g.70834811G>T						VAC14_uc010cfw.2_Translation_Start_Site|VAC14_uc002ezn.2_Translation_Start_Site		NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			1	251	-		Ovarian(137;0.0699)						B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Translation_Start_Site	SNP	ENST00000261776.5	37	c.-7C>A	CCDS10896.1																																																																																				PASS	0.701	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		8	30	8	30	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70926361	70926361	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:70926361C>A	ENST00000393567.2	-	56	9470	c.9320G>T	c.(9319-9321)gGt>gTt	p.G3107V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3107					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G3058V(1)|p.G3106V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTCAGTGAACCCTTTTTGGG	0.428																																						uc002ezr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(9316-9318)GGT>GTT		hydrocephalus inducing isoform a							113.0	124.0	121.0					16																	70926361		1849	4089	5938	SO:0001583	missense	54768							g.chr16:70926361C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9320G>T	16.37:g.70926361C>A	ENSP00000377197:p.Gly3107Val						p.G3106V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			56	9445	-		Ovarian(137;0.0654)	3107					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9317G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085619	0.55861	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01240	5.12	4.86	4.86	0.63082	.	0.000000	0.33553	U	0.004787	T	0.07728	0.0194	M	0.71206	2.165	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.02220	-1.1193	10	0.87932	D	0	.	15.7874	0.78319	0.0:1.0:0.0:0.0	.	3106	F8WD23	.	V	3107;3106	ENSP00000377197:G3107V	ENSP00000313052:G3106V	G	-	2	0	HYDIN	69483862	1.000000	0.71417	0.439000	0.26833	0.287000	0.27160	6.411000	0.73298	2.248000	0.74166	0.436000	0.28706	GGT		PASS	0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			83	126	83	126	---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74339275	74339275	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:74339275G>C	ENST00000219313.4	+	7	759	c.619G>C	c.(619-621)Gat>Cat	p.D207H	AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.D130H|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000567958.1_Intron	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.D207H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CAAGCTTCTGGATATCAGGAG	0.522																																						uc002fcq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GAT>CAT		proteasome 26S non-ATPase subunit 7							54.0	52.0	52.0					16																	74339275		2198	4300	6498	SO:0001583	missense	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74339275G>C	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.619G>C	16.37:g.74339275G>C	ENSP00000219313:p.Asp207His					PSMD7_uc010vmr.1_Missense_Mutation_p.D130H	p.D207H	NM_002811	NP_002802	P51665	PSD7_HUMAN			7	751	+			207					D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.619G>C	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644074	0.67244	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.47528	0.84;0.84	5.68	5.68	0.88126	.	0.043156	0.85682	D	0.000000	T	0.53142	0.1778	M	0.69185	2.1	0.80722	D	1	B	0.15141	0.012	B	0.24394	0.053	T	0.51332	-0.8719	10	0.62326	D	0.03	.	19.8003	0.96504	0.0:0.0:1.0:0.0	.	207	P51665	PSD7_HUMAN	H	207;130	ENSP00000219313:D207H;ENSP00000443925:D130H	ENSP00000219313:D207H	D	+	1	0	PSMD7	72896776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.672000	0.90937	0.650000	0.86243	GAT		PASS	0.522	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		12	69	12	69	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88689746	88689746	+	Missense_Mutation	SNP	G	G	T	rs576458945		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:88689746G>T	ENST00000301011.5	+	10	1987	c.1787G>T	c.(1786-1788)cGg>cTg	p.R596L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	596	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1786-1788)CGG>CTG		zinc finger CCCH-type containing 18							50.0	50.0	50.0					16																	88689746		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689746G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1787G>T	16.37:g.88689746G>T	ENSP00000301011:p.Arg596Leu					ZC3H18_uc010voz.1_Missense_Mutation_p.R620L|ZC3H18_uc010chw.2_RNA	p.R596L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1987	+			596			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1787G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515629	0.64634	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.54279	0.58;0.58	5.7	2.63	0.31362	.	0.162999	0.52532	D	0.000065	T	0.51346	0.1669	M	0.65498	2.005	0.49483	D	0.99979	P;P	0.39480	0.675;0.675	B;B	0.40165	0.321;0.321	T	0.53215	-0.8470	10	0.72032	D	0.01	-9.4706	11.1016	0.48177	0.1895:0.0:0.8105:0.0	.	620;596	E7ERS3;Q86VM9	.;ZCH18_HUMAN	L	596;564;620	ENSP00000301011:R596L;ENSP00000416951:R620L	ENSP00000289509:R564L	R	+	2	0	ZC3H18	87217247	1.000000	0.71417	0.885000	0.34714	0.946000	0.59487	2.728000	0.47319	0.328000	0.23435	0.561000	0.74099	CGG		PASS	0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		56	26	56	26	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:7579314T>G	ENST00000269305.4	-	4	562	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000359597.4_Missense_Mutation_p.T125P|TP53_ENST00000420246.2_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000455263.2_Missense_Mutation_p.T125P|TP53_ENST00000574684.1_5'Flank	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(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)	CAACTGACCGTGCAAGTCACA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		24	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.G59fs*23(3)|p.T125R(3)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T125_Y126insX(1)	lung(6)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|breast(2)|large_intestine(1)|stomach(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						c.(373-375)ACG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							66.0	61.0	63.0					17																	7579314		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.chr17:7579314T>G	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.373A>C	17.37:g.7579314T>G	ENSP00000269305:p.Thr125Pro	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.T125P|TP53_uc002gih.2_Missense_Mutation_p.T125P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.T125P|TP53_uc010cni.1_Missense_Mutation_p.T125P|TP53_uc002gij.2_Missense_Mutation_p.T125P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.T86P|TP53_uc010cnk.1_Missense_Mutation_p.T140P	p.T125P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	567	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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.373A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467962	0.84533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	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	0.99822	0.9921	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.998;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.977;0.998;0.998;0.998	D	0.96840	0.9617	10	0.66056	D	0.02	-16.188	12.5363	0.56144	0.0:0.0:0.0:1.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125P;ENSP00000352610:T125P;ENSP00000269305:T125P;ENSP00000398846:T125P;ENSP00000391127:T125P;ENSP00000391478:T125P;ENSP00000424104:T125P;ENSP00000426252:T125P	ENSP00000269305:T125P	T	-	1	0	TP53	7520039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.383000	0.73172	2.125000	0.65367	0.533000	0.62120	ACG		PASS	0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	42	45	42	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7662770	7662770	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:7662770C>T	ENST00000572933.1	+	16	3939	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R827W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	827	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R827W(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTACATGATTCGGCTGGACCG	0.522																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(2479-2481)CGG>TGG		dynein heavy chain domain 3							90.0	78.0	82.0					17																	7662770		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662770C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2479C>T	17.37:g.7662770C>T	ENSP00000458355:p.Arg827Trp						p.R827W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			15	2493	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	827			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2479C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.599211	0.66332	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23950	1.88	5.37	4.39	0.52855	.	0.170770	0.38217	N	0.001763	T	0.31199	0.0789	L	0.53249	1.67	0.80722	D	1	D	0.58620	0.983	P	0.48677	0.586	T	0.03473	-1.1033	10	0.39692	T	0.17	.	11.747	0.51825	0.4385:0.5615:0.0:0.0	.	827	Q9P225	DYH2_HUMAN	W	827	ENSP00000373825:R827W	ENSP00000353818:R827W	R	+	1	2	DNAH2	7603495	0.858000	0.29795	0.768000	0.31515	0.885000	0.51271	3.238000	0.51352	1.239000	0.43787	0.484000	0.47621	CGG		PASS	0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	78	4	78	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10304654	10304654	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:10304654C>G	ENST00000403437.2	-	24	3140	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1016					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1016Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGTCCTCCTCTGCCTGCAGG	0.453									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(3046-3048)GAG>CAG		myosin, heavy chain 8, skeletal muscle,							162.0	161.0	161.0					17																	10304654		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304654C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3046G>C	17.37:g.10304654C>G	ENSP00000384330:p.Glu1016Gln					uc002gml.1_Intron	p.E1016Q	NM_002472	NP_002463	P13535	MYH8_HUMAN			24	3141	-			1016			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3046G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447627	0.84101	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91068	-2.78	5.65	5.65	0.86999	.	0.000000	0.42172	U	0.000758	D	0.96172	0.8752	M	0.88181	2.935	0.58432	D	0.999999	D	0.71674	0.998	D	0.71656	0.974	D	0.95978	0.8975	10	0.66056	D	0.02	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1016	P13535	MYH8_HUMAN	Q	1016	ENSP00000384330:E1016Q	ENSP00000252173:E1016Q	E	-	1	0	MYH8	10245379	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.376000	0.79658	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.453	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	316	8	316	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25924359	25924359	+	Silent	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:25924359A>T	ENST00000319524.6	+	10	1365	c.1365A>T	c.(1363-1365)acA>acT	p.T455T	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Silent_p.T455T|KSR1_ENST00000398988.3_Silent_p.T318T|KSR1_ENST00000268763.6_Silent_p.T318T			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	455					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T455T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCTCCTCCACACCCTCCTCAC	0.647																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|central_nervous_system(1)	4						c.(952-954)ACA>ACT		kinase suppressor of ras							59.0	78.0	71.0					17																	25924359		2117	4230	6347	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25924359A>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1365A>T	17.37:g.25924359A>T						KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.T119T	p.T318T	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	10	1399	+	Lung NSC(42;0.00836)		453					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.954A>T		.	.	.	.	.	.	.	.	.	.	A	10.48	1.361739	0.24684	.	.	ENSG00000141068	ENST00000398988	.	.	.	4.74	-6.86	0.01676	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35624	-0.9781	6	0.21014	T	0.42	.	6.5146	0.22240	0.6191:0.0913:0.1977:0.0919	.	.	.	.	S	191	.	ENSP00000381958:T191S	T	+	1	0	KSR1	22948486	0.000000	0.05858	0.951000	0.38953	0.970000	0.65996	-2.048000	0.01406	-0.933000	0.03737	-0.366000	0.07423	ACC		PASS	0.647	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		8	25	8	25	---	---	---	---
SEZ6	124925	broad.mit.edu	37	17	27308587	27308587	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:27308587G>T	ENST00000317338.12	-	2	954	c.526C>A	c.(526-528)Ccc>Acc	p.P176T	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.P176T|SEZ6_ENST00000360295.9_Missense_Mutation_p.P176T|SEZ6_ENST00000442608.3_Missense_Mutation_p.P176T			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	176	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.P176T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTGCTGGGGGGTGTAGTGCTG	0.637																																						uc002hdp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(526-528)CCC>ACC		seizure related 6 homolog isoform 1							35.0	40.0	38.0					17																	27308587		2199	4298	6497	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27308587G>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.526C>A	17.37:g.27308587G>T	ENSP00000312942:p.Pro176Thr					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.P176T|SEZ6_uc002hdq.1_Missense_Mutation_p.P51T|SEZ6_uc010crz.1_Missense_Mutation_p.P176T	p.P176T	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	720	-	Lung NSC(42;0.0137)		176			Pro-rich.|Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.526C>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.949050	0.18356	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T;T	0.29917	1.59;1.55;1.59;2.51	4.84	3.79	0.43588	.	0.351137	0.21398	N	0.075196	T	0.28928	0.0718	L	0.29908	0.895	0.27856	N	0.940566	B;P;B	0.44478	0.277;0.836;0.321	B;P;B	0.49226	0.203;0.603;0.177	T	0.04752	-1.0929	10	0.35671	T	0.21	.	10.2178	0.43179	0.0:0.202:0.7979:0.0	.	176;176;176	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	T	176;176;51;176;176	ENSP00000403784:P176T;ENSP00000353440:P176T;ENSP00000312942:P51T;ENSP00000337407:P176T	ENSP00000312942:P51T	P	-	1	0	SEZ6	24332713	0.995000	0.38212	0.911000	0.35937	0.120000	0.20174	1.546000	0.36179	2.238000	0.73509	0.462000	0.41574	CCC		PASS	0.637	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			17	28	17	28	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28544291	28544291	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:28544291C>A	ENST00000401766.2	-	5	1242	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G244W			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	244					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.G244W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TCCTGGAGCCCCTTAGACCGG	0.587																																						uc002hey.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(730-732)GGG>TGG		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						72.0	74.0	73.0					17																	28544291		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28544291C>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.730G>T	17.37:g.28544291C>A	ENSP00000385822:p.Gly244Trp						p.G244W	NM_001045	NP_001036	P31645	SC6A4_HUMAN			6	1274	-			244			Extracellular (Potential).		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.730G>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539873	0.85917	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77229	-1.08;-1.08	5.47	4.49	0.54785	.	0.099947	0.64402	D	0.000001	D	0.91656	0.7363	H	0.95982	3.75	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.94211	0.7459	10	0.87932	D	0	.	15.3628	0.74492	0.0:0.86:0.14:0.0	.	244	P31645	SC6A4_HUMAN	W	286;244;244	ENSP00000385822:G244W;ENSP00000261707:G244W	ENSP00000261707:G244W	G	-	1	0	SLC6A4	25568417	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.991000	0.70602	1.303000	0.44873	0.555000	0.69702	GGG		PASS	0.587	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		66	141	66	141	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28548847	28548847	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:28548847A>G	ENST00000401766.2	-	2	642	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S44P			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	44					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.S44P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TACCCATTGGATATTTGCCCG	0.542																																						uc002hey.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(130-132)TCC>CCC		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						184.0	164.0	171.0					17																	28548847		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548847A>G	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.130T>C	17.37:g.28548847A>G	ENSP00000385822:p.Ser44Pro						p.S44P	NM_001045	NP_001036	P31645	SC6A4_HUMAN			3	674	-			44			Cytoplasmic (Potential).		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.130T>C	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521347	0.85600	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.54675	0.56;0.56	5.85	5.85	0.93711	Sodium:neurotransmitter symporter, serotonin, N-terminal (2);	0.471030	0.25050	N	0.033534	T	0.48960	0.1529	N	0.24115	0.695	0.53005	D	0.999967	P	0.48589	0.912	P	0.48598	0.583	T	0.51834	-0.8655	10	0.54805	T	0.06	.	15.4155	0.74962	1.0:0.0:0.0:0.0	.	44	P31645	SC6A4_HUMAN	P	86;44;44	ENSP00000385822:S44P;ENSP00000261707:S44P	ENSP00000261707:S44P	S	-	1	0	SLC6A4	25572973	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	5.378000	0.66190	2.234000	0.73211	0.533000	0.62120	TCC		PASS	0.542	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		119	226	119	226	---	---	---	---
RARA	5914	broad.mit.edu	37	17	38504711	38504711	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:38504711T>A	ENST00000254066.5	+	3	777	c.322T>A	c.(322-324)Tgc>Agc	p.C108S	RARA_ENST00000394089.2_Missense_Mutation_p.C108S|RARA_ENST00000425707.3_Intron|RARA_ENST00000394081.3_Missense_Mutation_p.C103S|RARA_ENST00000394086.3_Missense_Mutation_p.C124S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	108					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.C108S(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTGTGAGGGCTGCAAGGTGAG	0.592			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(322-324)TGC>AGC		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						74.0	68.0	70.0					17																	38504711		2203	4300	6503	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38504711T>A	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.322T>A	17.37:g.38504711T>A	ENSP00000254066:p.Cys108Ser					RARA_uc002hul.3_Missense_Mutation_p.C108S|RARA_uc010wfe.1_Intron|RARA_uc002hun.1_Missense_Mutation_p.C103S	p.C108S	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		3	777	+		Breast(137;0.00328)	108			NR C4-type.|Nuclear receptor.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.322T>A	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977776	0.92982	.	.	ENSG00000131759	ENST00000254066;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149	D;D;D;D	0.99803	-6.82;-6.82;-6.82;-6.82	5.3	5.3	0.74995	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.96576	3.845	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.69479	0.964;0.955	D	0.96736	0.9543	10	0.87932	D	0	.	13.2078	0.59807	0.0:0.0:0.0:1.0	.	103;108	F1D8N9;P10276	.;RARA_HUMAN	S	108;108;124;103;103	ENSP00000254066:C108S;ENSP00000377649:C108S;ENSP00000377648:C124S;ENSP00000377643:C103S	ENSP00000254066:C108S	C	+	1	0	RARA	35758237	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.235000	0.72332	2.013000	0.59113	0.374000	0.22700	TGC		PASS	0.592	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			29	90	29	90	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39742654	39742654	+	Missense_Mutation	SNP	C	C	G	rs34775538		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:39742654C>G	ENST00000167586.6	-	1	519	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	145	Coil 1A.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.V145L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGGATCTTCACTTCCAGGTCG	0.577																																						uc002hxf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GTG>CTG		keratin 14							146.0	146.0	146.0					17																	39742654		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742654C>G	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.433G>C	17.37:g.39742654C>G	ENSP00000167586:p.Val145Leu					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.V145L	p.V145L	NM_000526	NP_000517	P02533	K1C14_HUMAN			1	494	-		Breast(137;0.000307)	145			Coil 1A.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.433G>C	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.371854	0.24857	.	.	ENSG00000186847	ENST00000167586	D	0.91894	-2.93	5.11	4.12	0.48240	Filament (1);	0.149732	0.31685	N	0.007226	T	0.82217	0.4989	N	0.16166	0.38	0.34873	D	0.743803	B	0.17038	0.02	B	0.25405	0.06	T	0.78132	-0.2323	10	0.24483	T	0.36	.	6.4606	0.21954	0.1515:0.6995:0.0:0.149	.	145	P02533	K1C14_HUMAN	L	145	ENSP00000167586:V145L	ENSP00000167586:V145L	V	-	1	0	KRT14	36996180	0.003000	0.15002	1.000000	0.80357	0.828000	0.46876	-0.030000	0.12308	2.541000	0.85698	0.549000	0.68633	GTG		PASS	0.577	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		111	207	111	207	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42477794	42477794	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:42477794A>T	ENST00000591680.1	-	8	1681	c.1651T>A	c.(1651-1653)Tgg>Agg	p.W551R	GPATCH8_ENST00000434000.1_Missense_Mutation_p.W473R	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	551							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.W551R(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCTGATGGCCACTGGAGGGCA	0.443											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1651-1653)TGG>AGG		G patch domain containing 8							59.0	58.0	59.0					17																	42477794		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477794A>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1651T>A	17.37:g.42477794A>T	ENSP00000467556:p.Trp551Arg		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.1_Missense_Mutation_p.W473R|GPATCH8_uc010wiz.1_Missense_Mutation_p.W473R	p.W551R	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	1715	-		Prostate(33;0.0181)	551					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1651T>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.421089	0.42918	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.77358	-1.09	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.79258	2.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.88091	0.2813	10	0.49607	T	0.09	-8.6861	14.4353	0.67277	1.0:0.0:0.0:0.0	.	551	Q9UKJ3	GPTC8_HUMAN	R	551;473	ENSP00000395016:W473R	ENSP00000335486:W551R	W	-	1	0	GPATCH8	39833320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.761000	0.91691	1.993000	0.58246	0.260000	0.18958	TGG		PASS	0.443	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		28	102	28	102	---	---	---	---
GJC1	10052	broad.mit.edu	37	17	42883087	42883087	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:42883087G>A	ENST00000426548.1	-	3	368	c.99C>T	c.(97-99)atC>atT	p.I33I	GJC1_ENST00000590758.1_Silent_p.I33I|GJC1_ENST00000592524.1_Silent_p.I33I|GJC1_ENST00000330514.4_Silent_p.I33I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	33					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.I33I(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTGTAAGGACGATCCGGAAGA	0.478																																						uc002ihj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)ATC>ATT		connexin 45							98.0	81.0	87.0					17																	42883087		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42883087G>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.99C>T	17.37:g.42883087G>A						GJC1_uc002ihk.2_Silent_p.I33I|GJC1_uc002ihl.2_Silent_p.I33I|GJC1_uc010czx.2_Silent_p.I33I|GJC1_uc010czy.1_5'Flank	p.I33I	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	610	-		Prostate(33;0.0959)	33			Helical; (Potential).		B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.99C>T	CCDS11487.1																																																																																				PASS	0.478	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		25	97	25	97	---	---	---	---
HIGD1B	51751	broad.mit.edu	37	17	42926621	42926621	+	Splice_Site	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:42926621G>A	ENST00000253410.2	+	2	351		c.e2-1		HIGD1B_ENST00000587021.1_Intron|HIGD1B_ENST00000591513.1_Splice_Site	NM_016438.2	NP_057522.1	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Prostate(33;0.109)				TCTGCCCACAGGCTTAGGAGG	0.567																																						uc002ihm.2																			1	Unknown(1)		lung(1)		0						c.e2-1		HIG1 hypoxia inducible domain family, member 1B							96.0	85.0	89.0					17																	42926621		2203	4300	6503	SO:0001630	splice_region_variant	51751					integral to membrane		g.chr17:42926621G>A	AB038021	CCDS11488.1	17q21.31	2009-03-17	2009-03-17			ENSG00000131097			24318	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1B"""			12477932	Standard	NM_016438		Approved	CLST11240, CLST11240-15	uc031rau.1	Q9P298		ENST00000253410.2:c.101-1G>A	17.37:g.42926621G>A							p.G34_splice	NM_016438	NP_057522	Q9P298	HIG1B_HUMAN			2	343	+		Prostate(33;0.109)						D3DX57|Q9P297	Splice_Site	SNP	ENST00000253410.2	37	c.101_splice	CCDS11488.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997469	0.74818	.	.	ENSG00000131097	ENST00000253410	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7713	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIGD1B	40282147	1.000000	0.71417	0.972000	0.41901	0.890000	0.51754	6.875000	0.75551	2.744000	0.94065	0.561000	0.74099	.		PASS	0.567	HIGD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448669.1	NM_016438	Intron	18	105	18	105	---	---	---	---
DYNLL2	140735	broad.mit.edu	37	17	56164509	56164509	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:56164509G>A	ENST00000579991.2	+	2	336	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|synaptic target recognition (GO:0008039)|transport (GO:0006810)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)|myosin complex (GO:0016459)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)	p.D20N(1)		lung(3)	3						CATGCAACAGGATGCCGTTGA	0.517																																						uc010wnn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GAT>AAT		dynein, light chain, LC8-type 2							123.0	97.0	105.0					17																	56164509		2203	4300	6503	SO:0001583	missense	140735				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity	g.chr17:56164509G>A	AF112997	CCDS11601.1	17q23.2	2009-11-18				ENSG00000264364		"""Cytoplasmic dyneins"""	24596	protein-coding gene	gene with protein product	"""radial spoke 22 homolog (Chlamydomonas)"""	608942				16260502	Standard	NM_080677		Approved	MGC17810, Dlc2, DNCL1B, RSPH22	uc010wnn.1	Q96FJ2		ENST00000579991.2:c.58G>A	17.37:g.56164509G>A	ENSP00000477310:p.Asp20Asn						p.D20N	NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN			2	332	+			20					B2R5B4	Missense_Mutation	SNP	ENST00000579991.2	37	c.58G>A	CCDS11601.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.461278	0.84317	.	.	ENSG00000121083	ENST00000240343	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	.	.	.	0.80722	D	1	B	0.18863	0.031	B	0.26693	0.072	T	0.57452	-0.7809	8	0.52906	T	0.07	.	18.5358	0.91010	0.0:0.0:1.0:0.0	.	20	Q96FJ2	DYL2_HUMAN	N	20	.	ENSP00000240343:D20N	D	+	1	0	DYNLL2	53519508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.616000	0.88540	0.555000	0.69702	GAT		PASS	0.517	DYNLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443338.2	NM_080677		13	94	13	94	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56581810	56581810	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:56581810C>T	ENST00000323456.5	-	13	1463	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	MTMR4_ENST00000579925.1_Missense_Mutation_p.G447R	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	447	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.G447R(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTTGTGCCCAAAATCCAGC	0.483																																						uc002iwj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1339-1341)GGG>AGG		myotubularin related protein 4							72.0	72.0	72.0					17																	56581810		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581810C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1339G>A	17.37:g.56581810C>T	ENSP00000325285:p.Gly447Arg						p.G447R	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			13	1449	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		447			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1339G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969733	0.92855	.	.	ENSG00000108389	ENST00000323456	D	0.99121	-5.45	5.63	5.63	0.86233	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96930	0.9680	10	0.87932	D	0	.	18.6661	0.91491	0.0:1.0:0.0:0.0	.	447	Q9NYA4	MTMR4_HUMAN	R	447	ENSP00000325285:G447R	ENSP00000325285:G447R	G	-	1	0	MTMR4	53936809	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.445000	0.80570	2.650000	0.89964	0.467000	0.42956	GGG		PASS	0.483	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		5	95	5	95	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57057444	57057444	+	IGR	SNP	C	C	A	rs151205066		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:57057444C>A	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Silent_p.T440T	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T440T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTATGACACCGTGAACCCTG	0.498									Mulibrey Nanism																													uc002iwx.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|lung(1)|skin(1)	5						c.(1318-1320)ACC>ACA		protein phosphatase 1E							135.0	98.0	110.0					17																	57057444		2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057444C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057444C>A						PPM1E_uc010ddd.2_Silent_p.T203T	p.T440T	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	1447	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		449			PP2C-like.		Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000393066.3	37	c.1320C>A	CCDS45746.1																																																																																				PASS	0.498	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		43	58	43	58	---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57955528	57955528	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:57955528C>T	ENST00000592426.1	-	4	705	c.705G>A	c.(703-705)ctG>ctA	p.L235L	TUBD1_ENST00000394239.3_Silent_p.L235L|TUBD1_ENST00000325752.3_Silent_p.L235L|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000340993.6_Silent_p.L235L|TUBD1_ENST00000376094.4_Silent_p.L235L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Silent_p.L19L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	235					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L235L(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	ACACACTTCCCAGCTGATGTG	0.403																																						uc002ixw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(703-705)CTG>CTA		delta-tubulin							184.0	148.0	160.0					17																	57955528		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955528C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.705G>A	17.37:g.57955528C>T						TUBD1_uc010ddf.1_Silent_p.L235L|TUBD1_uc010ddg.1_Silent_p.L200L|TUBD1_uc010ddh.1_Silent_p.L116L|TUBD1_uc010wok.1_Silent_p.L235L|TUBD1_uc002ixx.1_Silent_p.L235L|TUBD1_uc010wol.1_Silent_p.L19L|TUBD1_uc010ddi.1_Intron	p.L235L	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	983	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		235					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.705G>A	CCDS11620.1																																																																																				PASS	0.403	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		82	155	82	155	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58153505	58153505	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:58153505G>C	ENST00000184956.6	-	2	329	c.313C>G	c.(313-315)Ctt>Gtt	p.L105V	HEATR6_ENST00000585976.1_Missense_Mutation_p.L105V|HEATR6_ENST00000585712.1_5'Flank	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	105							poly(A) RNA binding (GO:0044822)	p.L105V(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AATCTGTTAAGTAAATGGTGG	0.383																																						uc002iyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(313-315)CTT>GTT		HEAT repeat containing 6							70.0	61.0	64.0					17																	58153505		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58153505G>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.313C>G	17.37:g.58153505G>C	ENSP00000184956:p.Leu105Val					HEATR6_uc010wos.1_5'Flank	p.L105V	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		2	330	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		105					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.313C>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804452	0.70682	.	.	ENSG00000068097	ENST00000184956	T	0.67345	-0.26	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	L	0.56769	1.78	0.53005	D	0.999969	D	0.69078	0.997	D	0.78314	0.991	T	0.74987	-0.3476	10	0.30078	T	0.28	-12.0258	17.9234	0.88975	0.0:0.0:1.0:0.0	.	105	Q6AI08	HEAT6_HUMAN	V	105	ENSP00000184956:L105V	ENSP00000184956:L105V	L	-	1	0	HEATR6	55508287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.014000	0.88676	2.659000	0.90383	0.644000	0.83932	CTT		PASS	0.383	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		4	107	4	107	---	---	---	---
PRKAR1A	5573	broad.mit.edu	37	17	66519041	66519041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:66519041G>T	ENST00000589228.1	+	3	450	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000588188.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.E108*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	108	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.E108*(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTACACGGAGGAAGATGCGGC	0.493			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	uc002jhg.2			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	T|Mis|N|F|S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	myxoma|endocrine|papillary thyroid	papillary thyroid		1	Substitution - Nonsense(1)		lung(1)	adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12						c.(322-324)GAA>TAA		cAMP-dependent protein kinase, regulatory							91.0	81.0	85.0					17																	66519041		2203	4300	6503	SO:0001587	stop_gained	5573	Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66519041G>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.322G>T	17.37:g.66519041G>T	ENSP00000464977:p.Glu108*					PRKAR1A_uc002jhh.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhi.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhj.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Nonsense_Mutation_p.E108*|PRKAR1A_uc002jhm.2_Nonsense_Mutation_p.E108*	p.E108*	NM_212471	NP_997636	P10644	KAP0_HUMAN			3	502	+	Breast(10;1.64e-13)		108			Dimerization and phosphorylation.		K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	c.322G>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417900	0.97550	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.76	5.76	0.90799	.	0.089199	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.3028	19.946	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000351410:E108X	E	+	1	0	PRKAR1A	64030636	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.869000	0.99810	2.721000	0.93114	0.650000	0.86243	GAA		PASS	0.493	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			48	99	48	99	---	---	---	---
AFMID	125061	broad.mit.edu	37	17	76200744	76200744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:76200744G>T	ENST00000327898.5	+	5	325	c.316G>T	c.(316-318)Gag>Tag	p.E106*	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Nonsense_Mutation_p.E106*|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron					arylformamidase									p.E106*(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAGTAAGGATGAGTCTGCCTT	0.577																																						uc002jva.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(316-318)GAG>TAG		arylformamidase isoform 1							94.0	66.0	76.0					17																	76200744		2203	4300	6503	SO:0001587	stop_gained	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76200744G>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.316G>T	17.37:g.76200744G>T	ENSP00000328938:p.Glu106*					AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Nonsense_Mutation_p.E106*	p.E106*	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		5	331	+			106						Nonsense_Mutation	SNP	ENST00000327898.5	37	c.316G>T	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945975	0.34377	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.89	-9.77	0.00500	.	1.244690	0.05766	N	0.605747	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.185	2.3998	0.04399	0.1474:0.3003:0.3079:0.2444	.	.	.	.	X	106	.	ENSP00000328938:E106X	E	+	1	0	AFMID	73712339	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.091000	0.11146	-2.675000	0.00411	-0.150000	0.13652	GAG		PASS	0.577	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		29	60	29	60	---	---	---	---
FOXK2	3607	broad.mit.edu	37	17	80540717	80540717	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr17:80540717C>A	ENST00000335255.5	+	5	1184	c.1010C>A	c.(1009-1011)gCc>gAc	p.A337D	snoU13_ENST00000459591.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	337					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ATAGACCCAGCCTCTGAAAGC	0.498																																						uc002kfn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)GCC>GAC		forkhead box K2							58.0	60.0	59.0					17																	80540717		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80540717C>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1010C>A	17.37:g.80540717C>A	ENSP00000335677:p.Ala337Asp					FOXK2_uc002kfm.1_Missense_Mutation_p.A337D|FOXK2_uc010diu.2_Intron	p.A337D	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		5	1181	+	Breast(20;0.00106)|all_neural(118;0.0952)		337			Fork-head.		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1010C>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985559	0.74589	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000531030;ENST00000526383	D;D;D	0.95307	-3.67;-3.67;-3.67	6.0	6.0	0.97389	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.051534	0.85682	D	0.000000	D	0.89511	0.6736	N	0.11023	0.085	0.80722	D	1	B;B	0.19583	0.037;0.03	B;B	0.31290	0.127;0.077	D	0.84211	0.0456	10	0.12103	T	0.63	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	337;337	Q01167;Q01167-2	FOXK2_HUMAN;.	D	333;337;148;217	ENSP00000335677:A337D;ENSP00000433167:A148D;ENSP00000432663:A217D	ENSP00000335677:A337D	A	+	2	0	FOXK2	78134006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.848000	0.98002	0.655000	0.94253	GCC		PASS	0.498	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		52	70	52	70	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8088778	8088778	+	Silent	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:8088778A>T	ENST00000332175.8	+	11	2822	c.1785A>T	c.(1783-1785)acA>acT	p.T595T	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Silent_p.T595T|PTPRM_ENST00000400053.4_Silent_p.T533T|PTPRM_ENST00000444013.1_Silent_p.T382T|PTPRM_ENST00000400060.4_Silent_p.T595T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	595	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T595T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACTTGAGACACCTTTGAATC	0.473																																						uc002knn.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1783-1785)ACA>ACT		protein tyrosine phosphatase, receptor type, M							136.0	118.0	124.0					18																	8088778		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8088778A>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1785A>T	18.37:g.8088778A>T						PTPRM_uc010dkv.2_Silent_p.T595T|PTPRM_uc010wzl.1_Silent_p.T382T	p.T595T	NM_002845	NP_002836	P28827	PTPRM_HUMAN			11	2288	+		Colorectal(10;0.234)	595			Fibronectin type-III 4.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.1785A>T	CCDS11840.1																																																																																				PASS	0.473	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			28	260	28	260	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12479814	12479814	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:12479814C>T	ENST00000409402.4	-	10	1555	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.G219S|SPIRE1_ENST00000383356.2_Missense_Mutation_p.G257S|SPIRE1_ENST00000410092.3_Missense_Mutation_p.G416S|SPIRE1_ENST00000453447.2_Missense_Mutation_p.G296S	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.G430S(1)|p.G257S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GATGTCAAACCTCCATTCACC	0.463																																						uc002kre.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1288-1290)GGT>AGT		spire homolog 1 isoform a							124.0	106.0	112.0					18																	12479814		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12479814C>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1288G>A	18.37:g.12479814C>T	ENSP00000387266:p.Gly430Ser					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G296S|SPIRE1_uc010wzx.1_Missense_Mutation_p.G219S|SPIRE1_uc010wzy.1_Missense_Mutation_p.G416S	p.G430S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			10	1335	-			430						Missense_Mutation	SNP	ENST00000409402.4	37	c.1288G>A	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	7.756	0.704320	0.15172	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.39056	1.1;1.68;1.69;1.1;1.11	5.26	4.38	0.52667	.	0.536741	0.21541	N	0.072897	T	0.11922	0.0290	N	0.00869	-1.13	0.09310	N	1	B;B;B	0.21147	0.004;0.0;0.052	B;B;B	0.16289	0.01;0.003;0.015	T	0.28902	-1.0029	10	0.02654	T	1	-12.444	8.9514	0.35792	0.0:0.7453:0.1353:0.1193	.	416;219;430	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	S	296;430;416;219;257	ENSP00000407050:G296S;ENSP00000387266:G430S;ENSP00000387226:G416S;ENSP00000309661:G219S;ENSP00000372847:G257S	ENSP00000309661:G219S	G	-	1	0	SPIRE1	12469814	0.011000	0.17503	0.717000	0.30585	0.371000	0.29859	0.480000	0.22244	1.205000	0.43262	0.650000	0.86243	GGT		PASS	0.463	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		35	221	35	221	---	---	---	---
SS18	6760	broad.mit.edu	37	18	23619384	23619384	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:23619384T>A	ENST00000415083.2	-	6	699	c.644A>T	c.(643-645)tAc>tTc	p.Y215F	SS18_ENST00000545952.1_Missense_Mutation_p.Y163F|SS18_ENST00000542420.2_Missense_Mutation_p.Y192F|SS18_ENST00000539849.1_Missense_Mutation_p.Y133F|SS18_ENST00000542743.1_Missense_Mutation_p.Y163F|SS18_ENST00000269137.7_Missense_Mutation_p.Y215F|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	215	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Y215F(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGGCATATTGTATTGCTGAGA	0.418			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	1	Substitution - Missense(1)		lung(1)	soft_tissue(1883)|ovary(1)	1884						c.(643-645)TAC>TTC		synovial sarcoma translocation, chromosome 18							167.0	141.0	150.0					18																	23619384		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619384T>A	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.644A>T	18.37:g.23619384T>A	ENSP00000414516:p.Tyr215Phe					SS18_uc002kvn.2_Missense_Mutation_p.Y215F|SS18_uc010xbf.1_Missense_Mutation_p.Y133F|SS18_uc010xbg.1_Missense_Mutation_p.Y163F|SS18_uc010xbh.1_Missense_Mutation_p.Y163F|SS18_uc010xbi.1_Missense_Mutation_p.Y192F|SS18_uc010dlz.1_Missense_Mutation_p.Y163F	p.Y215F	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			6	722	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		215			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.644A>T	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920940	0.92249	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.37058	1.33;1.26;1.27;1.22;1.27	5.31	4.12	0.48240	.	0.055619	0.85682	N	0.000000	T	0.54935	0.1889	M	0.66939	2.045	0.58432	D	0.999999	B;B;D	0.89917	0.009;0.009;1.0	B;B;D	0.83275	0.005;0.007;0.996	T	0.52049	-0.8627	10	0.38643	T	0.18	-0.2104	11.3085	0.49349	0.1464:0.0:0.0:0.8536	.	163;215;215	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	F	218;215;215;192;163;133;163	ENSP00000269137:Y215F;ENSP00000438066:Y192F;ENSP00000444551:Y163F;ENSP00000444647:Y133F;ENSP00000443097:Y163F	ENSP00000269137:Y215F	Y	-	2	0	SS18	21873382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.921000	0.70028	0.925000	0.37094	0.533000	0.62120	TAC		PASS	0.418	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			46	266	46	266	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34310661	34310661	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:34310661G>C	ENST00000359247.4	+	16	2894	c.2894G>C	c.(2893-2895)aGg>aCg	p.R965T	FHOD3_ENST00000590592.1_Missense_Mutation_p.R1157T|FHOD3_ENST00000445677.1_Missense_Mutation_p.R944T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.R178T|FHOD3_ENST00000257209.4_Missense_Mutation_p.R982T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	965	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R982T(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTCCAAGAGGAGTAACGCC	0.413																																						uc002kzt.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(2893-2895)AGG>ACG		formin homology 2 domain containing 3							140.0	126.0	130.0					18																	34310661		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310661G>C	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2894G>C	18.37:g.34310661G>C	ENSP00000352186:p.Arg965Thr					FHOD3_uc002kzs.1_Missense_Mutation_p.R982T|FHOD3_uc010dmz.1_Missense_Mutation_p.R697T|FHOD3_uc010dnb.1_5'UTR	p.R965T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			16	2991	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	965			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2894G>C		.	.	.	.	.	.	.	.	.	.	G	25.5	4.644527	0.87859	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20738	2.05;2.05;2.05	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.99	T	0.63642	-0.6591	10	0.54805	T	0.06	.	17.6127	0.88059	0.0:0.0:1.0:0.0	.	944;965;982	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	982;965;944	ENSP00000257209:R982T;ENSP00000352186:R965T;ENSP00000411430:R944T	ENSP00000257209:R982T	R	+	2	0	FHOD3	32564659	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.680000	0.98651	2.479000	0.83701	0.557000	0.71058	AGG		PASS	0.413	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		82	96	82	96	---	---	---	---
SMAD7	4092	broad.mit.edu	37	18	46476230	46476230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:46476230C>A	ENST00000262158.2	-	1	851	c.565G>T	c.(565-567)Gag>Tag	p.E189*	SMAD7_ENST00000589634.1_Nonsense_Mutation_p.E189*|SMAD7_ENST00000591805.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	189	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.E189*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CACACCAGCTCGGGGTTGATC	0.572											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ldg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(565-567)GAG>TAG		SMAD family member 7							43.0	44.0	44.0					18																	46476230		2203	4300	6503	SO:0001587	stop_gained	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46476230C>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.565G>T	18.37:g.46476230C>A	ENSP00000262158:p.Glu189*		OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	939	SMAD7_uc010xde.1_5'Flank	p.E189*	NM_005904	NP_005895	O15105	SMAD7_HUMAN			1	852	-	Colorectal(1;0.0518)		189			MH1.		B7Z773|K7EQ10|O14740|Q6DK23	Nonsense_Mutation	SNP	ENST00000262158.2	37	c.565G>T	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	41	8.626889	0.98890	.	.	ENSG00000101665	ENST00000262158	.	.	.	4.7	4.7	0.59300	.	0.116150	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.2154	0.82211	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000262158:E189X	E	-	1	0	SMAD7	44730228	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.918000	0.69996	2.158000	0.67659	0.561000	0.74099	GAG		PASS	0.572	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		12	18	12	18	---	---	---	---
CBLN2	147381	broad.mit.edu	37	18	70205426	70205426	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr18:70205426C>A	ENST00000269503.4	-	5	1433	c.660G>T	c.(658-660)ttG>ttT	p.L220F	CBLN2_ENST00000584764.1_Missense_Mutation_p.L104F|CBLN2_ENST00000581073.1_Missense_Mutation_p.L106F|CBLN2_ENST00000585159.1_Missense_Mutation_p.L220F|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	220	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.L220F(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GAGGAAACACCAAGAAGCCCG	0.517																																						uc002lku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)TTG>TTT		cerebellin 2 precursor							77.0	78.0	77.0					18																	70205426		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205426C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.660G>T	18.37:g.70205426C>A	ENSP00000269503:p.Leu220Phe					CBLN2_uc002lkv.2_Missense_Mutation_p.L220F	p.L220F	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			4	895	-		Esophageal squamous(42;0.131)	220			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.660G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989700	0.35131	.	.	ENSG00000141668	ENST00000269503	D	0.86164	-2.08	5.66	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000002	D	0.94634	0.8270	H	0.96518	3.835	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.94337	0.7567	10	0.87932	D	0	-18.2937	6.949	0.24534	0.0:0.7103:0.0:0.2897	.	220	Q8IUK8	CBLN2_HUMAN	F	220	ENSP00000269503:L220F	ENSP00000269503:L220F	L	-	3	2	CBLN2	68356406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.605000	0.46283	1.537000	0.49254	0.655000	0.94253	TTG		PASS	0.517	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		5	155	5	155	---	---	---	---
ZNF77	58492	broad.mit.edu	37	19	2934610	2934610	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:2934610C>T	ENST00000314531.4	-	4	607	c.515G>A	c.(514-516)aGc>aAc	p.S172N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	172					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.S172N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAGGCAGCTGCAGGCTTG	0.512																																						uc002lws.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)AGC>AAC		zinc finger protein 77							104.0	104.0	104.0					19																	2934610		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934610C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.515G>A	19.37:g.2934610C>T	ENSP00000319053:p.Ser172Asn						p.S172N	NM_021217	NP_067040	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	646	-			172					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.515G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	9.692	1.152255	0.21371	.	.	ENSG00000175691	ENST00000314531	T	0.01767	4.65	2.59	1.51	0.23008	.	.	.	.	.	T	0.01765	0.0056	N	0.26162	0.8	0.09310	N	1	D	0.59357	0.985	P	0.46362	0.514	T	0.52689	-0.8542	9	0.30854	T	0.27	.	5.0353	0.14430	0.2437:0.5183:0.238:0.0	.	172	Q15935	ZNF77_HUMAN	N	172	ENSP00000319053:S172N	ENSP00000319053:S172N	S	-	2	0	ZNF77	2885610	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.440000	0.06888	0.639000	0.30564	0.491000	0.48974	AGC		PASS	0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		46	70	46	70	---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6744953	6744953	+	Missense_Mutation	SNP	G	G	C	rs148404026		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:6744953G>C	ENST00000313244.9	+	9	967	c.932G>C	c.(931-933)cGa>cCa	p.R311P	TRIP10_ENST00000596758.1_Missense_Mutation_p.R311P|TRIP10_ENST00000600428.1_Missense_Mutation_p.R203P|TRIP10_ENST00000313285.8_Missense_Mutation_p.R311P			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	311	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R311P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTGAACTCCGAGGCCCGGGT	0.662																																						uc002mfs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(931-933)CGA>CCA		thyroid hormone receptor interactor 10							30.0	32.0	31.0					19																	6744953		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6744953G>C	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.932G>C	19.37:g.6744953G>C	ENSP00000320117:p.Arg311Pro					TRIP10_uc010dux.1_Missense_Mutation_p.R311P|TRIP10_uc002mfr.2_Missense_Mutation_p.R311P|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R130P	p.R311P	NM_004240	NP_004231	Q15642	CIP4_HUMAN			9	998	+			311			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.932G>C		.	.	.	.	.	.	.	.	.	.	G	14.66	2.601227	0.46423	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.19532	2.14;2.14	4.99	4.99	0.66335	.	0.580155	0.16971	N	0.192105	T	0.37919	0.1021	L	0.50333	1.59	0.38635	D	0.951463	D;D;D	0.76494	0.999;0.998;0.998	D;P;D	0.78314	0.971;0.754;0.991	T	0.21793	-1.0235	10	0.66056	D	0.02	-9.43	9.4195	0.38541	0.098:0.0:0.902:0.0	.	311;311;311	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	P	311	ENSP00000320493:R311P;ENSP00000320117:R311P	ENSP00000320117:R311P	R	+	2	0	TRIP10	6695953	1.000000	0.71417	0.985000	0.45067	0.046000	0.14306	3.330000	0.52068	2.313000	0.78055	0.491000	0.48974	CGA		PASS	0.662	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			33	38	33	38	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6897258	6897258	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:6897258T>C	ENST00000312053.4	+	4	374	c.337T>C	c.(337-339)Tct>Cct	p.S113P	EMR1_ENST00000381404.4_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.S113P|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.S113P	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	113	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S113P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGATGGTTTCTCTTCTCCCAC	0.502																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(337-339)TCT>CCT		egf-like module containing, mucin-like, hormone							66.0	62.0	63.0					19																	6897258		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6897258T>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.337T>C	19.37:g.6897258T>C	ENSP00000311545:p.Ser113Pro					EMR1_uc010dvc.2_Missense_Mutation_p.S113P|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.S113P	p.S113P	NM_001974	NP_001965	Q14246	EMR1_HUMAN			4	375	+	all_hematologic(4;0.166)		113			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.337T>C	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	T	7.749	0.703022	0.15172	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000250572;ENST00000450315	D;D;D	0.92446	-3.04;-3.04;-3.04	3.88	2.79	0.32731	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93743	0.8000	M	0.66439	2.03	0.20403	N	0.999905	B;D;D	0.76494	0.0;0.999;0.998	B;D;D	0.72075	0.0;0.976;0.93	D	0.84817	0.0794	9	0.25106	T	0.35	.	7.2878	0.26350	0.0:0.0:0.2233:0.7767	.	113;113;113	E7EPX9;Q14246-2;Q14246	.;.;EMR1_HUMAN	P	113	ENSP00000311545:S113P;ENSP00000250572:S113P;ENSP00000405974:S113P	ENSP00000250572:S113P	S	+	1	0	EMR1	6848258	0.815000	0.29118	0.977000	0.42913	0.777000	0.43975	0.438000	0.21559	1.635000	0.50512	0.460000	0.39030	TCT		PASS	0.502	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			63	76	63	76	---	---	---	---
FCER2	2208	broad.mit.edu	37	19	7761738	7761738	+	Missense_Mutation	SNP	G	G	C	rs147413598	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:7761738G>C	ENST00000346664.5	-	8	654	c.442C>G	c.(442-444)Cta>Gta	p.L148V	FCER2_ENST00000360067.4_Missense_Mutation_p.L147V|FCER2_ENST00000597921.1_Missense_Mutation_p.L148V	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	148					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)	p.L148V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCCATCCTTAGCTTTGTCACC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		17914	0.0		0.002	False		,,,				2504	0.0					uc002mhn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)CTA>GTA		Fc fragment of IgE, low affinity II, receptor							100.0	66.0	78.0					19																	7761738		2203	4300	6503	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7761738G>C	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.442C>G	19.37:g.7761738G>C	ENSP00000264072:p.Leu148Val					FCER2_uc010xjs.1_Missense_Mutation_p.L70V|FCER2_uc010xjt.1_Missense_Mutation_p.L70V|FCER2_uc002mhm.2_Missense_Mutation_p.L148V|FCER2_uc010dvo.2_Missense_Mutation_p.L148V	p.L148V	NM_002002	NP_001993	P06734	FCER2_HUMAN			8	626	-			148			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000346664.5	37	c.442C>G	CCDS12184.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	7.552	0.662823	0.14710	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.37915	1.17;1.17	4.27	3.24	0.37175	C-type lectin-like (1);	0.000000	0.29355	N	0.012392	T	0.43322	0.1242	L	0.50333	1.59	0.26609	N	0.972873	D;D	0.76494	0.998;0.999	P;D	0.75484	0.879;0.986	T	0.32107	-0.9919	10	0.05721	T	0.95	.	8.0274	0.30444	0.1128:0.0:0.8872:0.0	.	147;148	P06734-2;P06734	.;FCER2_HUMAN	V	148;147	ENSP00000264072:L148V;ENSP00000353178:L147V	ENSP00000264072:L148V	L	-	1	2	FCER2	7667738	1.000000	0.71417	0.777000	0.31699	0.003000	0.03518	2.547000	0.45786	1.152000	0.42452	0.585000	0.79938	CTA		PASS	0.567	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		5	9	5	9	---	---	---	---
RAB11B	9230	broad.mit.edu	37	19	8467418	8467418	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:8467418C>A	ENST00000328024.6	+	4	698	c.480C>A	c.(478-480)aaC>aaA	p.N160K	RAB11B_ENST00000601897.1_Missense_Mutation_p.N41K|RAB11B_ENST00000594216.1_Missense_Mutation_p.N160K	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	160					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.N160K(1)		large_intestine(2)|lung(1)|ovary(1)	4						ATTCCACTAACGTAGAGGAAG	0.552																																						uc002mju.3																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)AAC>AAA		RAB11B, member RAS oncogene family							116.0	79.0	92.0					19																	8467418		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8467418C>A	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.480C>A	19.37:g.8467418C>A	ENSP00000333547:p.Asn160Lys					RAB11B_uc010xkd.1_Missense_Mutation_p.N160K	p.N160K	NM_004218	NP_004209	Q15907	RB11B_HUMAN			4	576	+			160					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.480C>A	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207123	0.39003	.	.	ENSG00000185236	ENST00000328024	D	0.82984	-1.67	5.21	-0.579	0.11720	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.92784	3.345	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.88622	0.3163	10	0.72032	D	0.01	.	8.0142	0.30372	0.0:0.3485:0.0:0.6515	.	160;160	B4DMK0;Q15907	.;RB11B_HUMAN	K	160	ENSP00000333547:N160K	ENSP00000333547:N160K	N	+	3	2	RAB11B	8373418	0.063000	0.20901	0.994000	0.49952	0.024000	0.10985	-0.641000	0.05434	0.083000	0.17047	-0.229000	0.12294	AAC		PASS	0.552	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		23	79	23	79	---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8564041	8564041	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:8564041C>T	ENST00000423345.4	-	2	1171	c.651G>A	c.(649-651)gcG>gcA	p.A217A	PRAM1_ENST00000255612.3_Silent_p.A217A			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	265	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.A217A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						ACTCAGGCTGCGCAGGCTTCT	0.637																																						uc002mkd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)GCG>GCA		PML-RARA regulated adaptor molecule 1							38.0	41.0	40.0					19																	8564041		2035	4185	6220	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8564041C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.651G>A	19.37:g.8564041C>T						PRAM1_uc002mkc.2_Silent_p.A217A	p.A217A	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	671	-			265			Pro-rich.		Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.651G>A	CCDS45954.2																																																																																				PASS	0.637	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		13	39	13	39	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068663	9068663	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:9068663C>T	ENST00000397910.4	-	3	18986	c.18783G>A	c.(18781-18783)aaG>aaA	p.K6261K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6263	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K6261K(2)|p.K1894K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGATCTTCGCCAGTG	0.473																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18781-18783)AAG>AAA		mucin 16							132.0	128.0	129.0					19																	9068663		2024	4183	6207	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068663C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18783G>A	19.37:g.9068663C>T							p.K6261K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18987	-			6263			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.18783G>A	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		36	149	36	149	---	---	---	---
ZNF266	10781	broad.mit.edu	37	19	9526346	9526346	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:9526346G>C	ENST00000592904.1	-	4	2264	c.188C>G	c.(187-189)tCc>tGc	p.S63C	ZNF266_ENST00000588221.1_Missense_Mutation_p.S63C|ZNF266_ENST00000361451.2_Missense_Mutation_p.S63C|ZNF266_ENST00000361151.1_Missense_Mutation_p.S63C|ZNF266_ENST00000592292.1_Missense_Mutation_p.S63C|ZNF266_ENST00000588933.1_Missense_Mutation_p.S63C|ZNF266_ENST00000590306.1_Missense_Mutation_p.S63C			Q14584	ZN266_HUMAN	zinc finger protein 266	63					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.S63C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AATCCCACTGGAGGTTGGCTC	0.388																																						uc002mll.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)TCC>TGC		zinc finger protein 266							138.0	134.0	135.0					19																	9526346		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9526346G>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.188C>G	19.37:g.9526346G>C	ENSP00000466714:p.Ser63Cys					ZNF266_uc002mlm.2_Missense_Mutation_p.S63C|ZNF266_uc002mln.2_Missense_Mutation_p.S63C|ZNF266_uc002mlo.2_Missense_Mutation_p.S63C|ZNF266_uc010dwp.2_Missense_Mutation_p.S63C|ZNF266_uc010dwq.2_Missense_Mutation_p.S63C	p.S63C	NM_198058	NP_932175	Q14584	ZN266_HUMAN			3	454	-			63					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.188C>G	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503624	0.26949	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.10005	2.92;2.92	3.36	3.36	0.38483	.	.	.	.	.	T	0.22044	0.0531	L	0.52823	1.66	0.09310	N	1	D	0.71674	0.998	P	0.58520	0.84	T	0.02868	-1.1100	9	0.72032	D	0.01	.	10.4109	0.44291	0.0:0.0:1.0:0.0	.	63	Q14584	ZN266_HUMAN	C	63	ENSP00000354680:S63C;ENSP00000355047:S63C	ENSP00000355047:S63C	S	-	2	0	ZNF266	9387346	0.001000	0.12720	0.002000	0.10522	0.030000	0.12068	0.937000	0.28951	1.892000	0.54788	0.555000	0.69702	TCC		PASS	0.388	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			46	112	46	112	---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10577637	10577637	+	Missense_Mutation	SNP	G	G	C	rs200183982		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:10577637G>C	ENST00000352831.6	+	15	2111	c.2001G>C	c.(1999-2001)gaG>gaC	p.E667D	PDE4A_ENST00000293683.5_Missense_Mutation_p.E641D|PDE4A_ENST00000344979.3_Missense_Mutation_p.E428D|PDE4A_ENST00000440014.2_Missense_Mutation_p.E606D|PDE4A_ENST00000380702.2_Missense_Mutation_p.E645D|PDE4A_ENST00000592685.1_Missense_Mutation_p.E645D	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	667	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.E641D(1)|p.E428D(1)|p.E606D(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ATGCCCAGGAGATCTTGGACA	0.582																																						uc002moj.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1999-2001)GAG>GAC		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						53.0	58.0	56.0					19																	10577637		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10577637G>C		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2001G>C	19.37:g.10577637G>C	ENSP00000270474:p.Glu667Asp					PDE4A_uc002mok.2_Missense_Mutation_p.E641D|PDE4A_uc002mol.2_Missense_Mutation_p.E606D|PDE4A_uc002mom.2_Missense_Mutation_p.E428D|PDE4A_uc002mon.2_Missense_Mutation_p.E122D|PDE4A_uc002moo.2_3'UTR	p.E667D	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		15	2109	+			667			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2001G>C	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	3.504	-0.101272	0.06967	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	4.87	-5.76	0.02376	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.432269	0.27109	N	0.020893	T	0.37758	0.1015	N	0.01505	-0.83	0.27571	N	0.949875	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.54583	-0.8272	10	0.02654	T	1	.	1.6005	0.02673	0.2341:0.3941:0.1591:0.2127	.	428;606;641;667	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	D	645;667;641;606;428	ENSP00000370078:E645D;ENSP00000270474:E667D;ENSP00000293683:E641D;ENSP00000394754:E606D;ENSP00000341007:E428D	ENSP00000293683:E641D	E	+	3	2	PDE4A	10438637	0.001000	0.12720	0.958000	0.39756	0.956000	0.61745	-1.636000	0.02016	-0.769000	0.04620	0.550000	0.68814	GAG		PASS	0.582	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			5	187	5	187	---	---	---	---
ZNF491	126069	broad.mit.edu	37	19	11917176	11917176	+	Silent	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:11917176T>C	ENST00000323169.5	+	3	739	c.408T>C	c.(406-408)tgT>tgC	p.C136C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	136					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.C136C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GTAAGTTTTGTGGGAAAGCCT	0.378																																						uc002mso.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(406-408)TGT>TGC		zinc finger protein 491							98.0	99.0	98.0					19																	11917176		2203	4300	6503	SO:0001819	synonymous_variant	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917176T>C	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.408T>C	19.37:g.11917176T>C							p.C136C	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	693	+			136			C2H2-type 3.		Q3MJ35|Q8NAT8	Silent	SNP	ENST00000323169.5	37	c.408T>C	CCDS12267.1																																																																																				PASS	0.378	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		56	142	56	142	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13226547	13226547	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:13226547C>A	ENST00000592062.1	-	5	916	c.346G>T	c.(346-348)Gtc>Ttc	p.V116F	TRMT1_ENST00000221504.8_Missense_Mutation_p.V116F|TRMT1_ENST00000357720.4_Missense_Mutation_p.V116F|TRMT1_ENST00000437766.1_Missense_Mutation_p.V116F|TRMT1_ENST00000592892.1_5'UTR|NACC1_ENST00000292431.4_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	116	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.V116F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AAGTCCACGACCACTTTTTGC	0.532																																						uc002mwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(346-348)GTC>TTC		tRNA methyltransferase 1 isoform 1							198.0	203.0	201.0					19																	13226547		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13226547C>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.346G>T	19.37:g.13226547C>A	ENSP00000466967:p.Val116Phe					NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.V116F|TRMT1_uc002mwl.3_Missense_Mutation_p.V116F|TRMT1_uc010xmz.1_5'UTR	p.V116F	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	3	596	-			116					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.346G>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817254	0.50633	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.74	1.27	0.21489	.	0.749581	0.11524	N	0.555428	T	0.67730	0.2924	M	0.73598	2.24	0.40217	D	0.977699	P;D	0.56746	0.896;0.977	P;P	0.60173	0.652;0.87	T	0.66484	-0.5912	9	0.56958	D	0.05	-18.928	5.8271	0.18560	0.1553:0.6675:0.0:0.1771	.	116;116	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	F	116	.	ENSP00000221504:V116F	V	-	1	0	TRMT1	13087547	0.981000	0.34729	0.997000	0.53966	0.574000	0.36063	1.215000	0.32431	0.584000	0.29591	-0.251000	0.11542	GTC		PASS	0.532	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		191	437	191	437	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13915621	13915621	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:13915621G>A	ENST00000254323.2	+	3	560	c.371G>A	c.(370-372)gGa>gAa	p.G124E	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	124							zinc ion binding (GO:0008270)	p.G124E(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CACCTGAGCGGAAACATCCGC	0.577											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(370-372)GGA>GAA		zinc finger, SWIM-type containing 4							53.0	50.0	51.0					19																	13915621		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13915621G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.371G>A	19.37:g.13915621G>A	ENSP00000254323:p.Gly124Glu		OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691	ZSWIM4_uc010xng.1_5'UTR	p.G124E	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		3	560	+			124						Missense_Mutation	SNP	ENST00000254323.2	37	c.371G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674508	0.47781	.	.	ENSG00000132003	ENST00000254323	T	0.73258	-0.73	4.57	3.49	0.39957	.	0.207947	0.31922	N	0.006857	D	0.83266	0.5217	M	0.86651	2.83	0.80722	D	1	D	0.61080	0.989	D	0.63957	0.92	D	0.85158	0.0990	10	0.87932	D	0	-18.1002	11.4397	0.50090	0.0:0.0:0.8181:0.1819	.	124	Q9H7M6	ZSWM4_HUMAN	E	124	ENSP00000254323:G124E	ENSP00000254323:G124E	G	+	2	0	ZSWIM4	13776621	1.000000	0.71417	0.291000	0.24904	0.020000	0.10135	9.471000	0.97696	0.878000	0.35920	0.549000	0.68633	GGA		PASS	0.577	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		16	81	16	81	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16000383	16000383	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:16000383G>A	ENST00000221700.6	-	7	863	c.768C>T	c.(766-768)ttC>ttT	p.F256F	CYP4F2_ENST00000011989.7_Silent_p.F107F	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.F256F(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCCCTGCGGAAACGCTGCC	0.572																																						uc002nbs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(766-768)TTC>TTT		cytochrome P450, family 4, subfamily F,							104.0	102.0	103.0					19																	16000383		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16000383G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.768C>T	19.37:g.16000383G>A						CYP4F2_uc010xot.1_Silent_p.F107F|CYP4F2_uc010xou.1_Silent_p.F107F	p.F256F	NM_001082	NP_001073	P78329	CP4F2_HUMAN			7	818	-			256						Silent	SNP	ENST00000221700.6	37	c.768C>T	CCDS12336.1																																																																																				PASS	0.572	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		46	223	46	223	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16641678	16641678	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:16641678C>T	ENST00000198939.6	-	6	757	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CHERP_ENST00000546361.2_Missense_Mutation_p.A230T|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein									p.A230T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCTCCCGGGCCTGCTTGCGC	0.692																																						uc002nei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(688-690)GCC>ACC		calcium homeostasis endoplasmic reticulum							30.0	36.0	34.0					19																	16641678		1991	4153	6144	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16641678C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.721G>A	19.37:g.16641678C>T	ENSP00000198939:p.Ala241Thr					MED26_uc002nee.2_Intron	p.A230T	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			6	762	-			230			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.688G>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.203817	0.79127	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.42131	0.98;0.98	5.18	5.18	0.71444	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.45478	0.1344	L	0.34521	1.04	0.52501	D	0.999954	P	0.48089	0.905	P	0.50314	0.637	T	0.40534	-0.9558	9	0.51188	T	0.08	-18.0665	17.6878	0.88260	0.0:1.0:0.0:0.0	.	230	Q8IWX8	CHERP_HUMAN	T	230;241	ENSP00000439856:A230T;ENSP00000198939:A241T	ENSP00000198939:A241T	A	-	1	0	CHERP	16502678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.814000	0.69208	2.441000	0.82636	0.462000	0.41574	GCC		PASS	0.692	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		15	85	15	85	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17088306	17088306	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:17088306A>C	ENST00000443236.1	-	15	1802	c.1771T>G	c.(1771-1773)Tct>Gct	p.S591A	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	544						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S591A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGATGAAGAGAGGTCACACAC	0.592																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1771-1773)TCT>GCT		C3 and PZP-like, alpha-2-macroglobulin domain							36.0	43.0	41.0					19																	17088306		1982	4145	6127	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088306A>C	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1771T>G	19.37:g.17088306A>C	ENSP00000402505:p.Ser591Ala						p.S591A	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1803	-			544					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1771T>G	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	a	3.185	-0.166976	0.06461	.	.	ENSG00000160111	ENST00000291440	.	.	.	2.62	2.62	0.31277	Alpha-2-macroglobulin, N-terminal 2 (1);	0.512864	0.17975	U	0.155727	T	0.47673	0.1458	M	0.64080	1.96	0.80722	D	1	B	0.29432	0.244	B	0.28305	0.088	T	0.25222	-1.0138	9	0.14252	T	0.57	.	7.3151	0.26495	0.8037:0.0:0.0:0.1963	.	544	Q8IZJ3	CPMD8_HUMAN	A	591	.	ENSP00000291440:S591A	S	-	1	0	CPAMD8	16949306	1.000000	0.71417	0.917000	0.36280	0.246000	0.25737	3.217000	0.51184	0.976000	0.38417	0.378000	0.23410	TCT		PASS	0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		13	87	13	87	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24309505	24309505	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:24309505G>C	ENST00000357002.4	+	4	818	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.E150Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E235Q(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTATACTGAAGAGAAACCTTA	0.328																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)GAG>CAG		zinc finger protein 254							39.0	42.0	41.0					19																	24309505		2203	4294	6497	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309505G>C	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.703G>C	19.37:g.24309505G>C	ENSP00000349494:p.Glu235Gln					ZNF254_uc010xrk.1_Missense_Mutation_p.E150Q	p.E235Q	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	837	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	235					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.703G>C	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	9.978	1.227396	0.22542	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.35236	1.32;1.32	1.12	-1.43	0.08884	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34250	0.0891	M	0.74389	2.26	0.24587	N	0.993847	P	0.34743	0.466	B	0.33750	0.169	T	0.28713	-1.0035	9	0.66056	D	0.02	.	6.484	0.22079	0.0:0.3062:0.6938:0.0	.	235	O75437	ZN254_HUMAN	Q	150;235;235	ENSP00000445527:E150Q;ENSP00000349494:E235Q	ENSP00000445527:E150Q	E	+	1	0	ZNF254	24101345	0.998000	0.40836	0.002000	0.10522	0.050000	0.14768	2.884000	0.48562	-0.441000	0.07201	0.313000	0.20887	GAG		PASS	0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		49	97	49	97	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34791809	34791809	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:34791809T>A	ENST00000299505.6	+	2	1304	c.431T>A	c.(430-432)aTg>aAg	p.M144K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	144								p.M144K(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AAGATGCTAATGGAACTTAGT	0.478																																						uc002nvd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)ATG>AAG		hypothetical protein LOC9710							59.0	49.0	52.0					19																	34791809		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791809T>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.431T>A	19.37:g.34791809T>A	ENSP00000299505:p.Met144Lys					KIAA0355_uc010edk.1_Missense_Mutation_p.M134K	p.M144K	NM_014686	NP_055501	O15063	K0355_HUMAN			2	1290	+	Esophageal squamous(110;0.162)		144					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.431T>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101832	0.56183	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	L	0.27053	0.805	0.80722	D	1	D	0.53462	0.96	D	0.66979	0.948	T	0.69120	-0.5229	9	0.87932	D	0	-33.2907	15.4502	0.75268	0.0:0.0:0.0:1.0	.	144	O15063	K0355_HUMAN	K	144	.	ENSP00000299505:M144K	M	+	2	0	KIAA0355	39483649	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.655000	0.83696	2.107000	0.64212	0.459000	0.35465	ATG		PASS	0.478	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		11	147	11	147	---	---	---	---
ZNF573	126231	broad.mit.edu	37	19	38229990	38229990	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:38229990C>G	ENST00000590414.2	-	4	1422	c.1401G>C	c.(1399-1401)aaG>aaC	p.K467N	ZNF573_ENST00000339503.4_Missense_Mutation_p.K409N|ZNF573_ENST00000392138.1_Missense_Mutation_p.K380N|ZNF573_ENST00000357309.3_Missense_Mutation_p.K379N|ZNF573_ENST00000536220.1_Missense_Mutation_p.K379N			Q86YE8	ZN573_HUMAN	zinc finger protein 573	467					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.K409N(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CAAAAAGTTTCTTACCAGTGT	0.348																																						uc002ohe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1399-1401)AAG>AAC		zinc finger protein 573							75.0	76.0	76.0					19																	38229990		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229990C>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1401G>C	19.37:g.38229990C>G	ENSP00000465020:p.Lys467Asn					ZNF573_uc010efs.2_Missense_Mutation_p.K380N|ZNF573_uc002ohd.2_Missense_Mutation_p.K465N|ZNF573_uc002ohf.2_Missense_Mutation_p.K409N|ZNF573_uc002ohg.2_Missense_Mutation_p.K379N	p.K467N	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	1423	-			447					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.1401G>C	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988215	0.35036	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	2.19	-0.102	0.13613	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12646	0.0307	L	0.33624	1.015	0.23391	N	0.997777	P;P;P;P	0.41910	0.531;0.764;0.586;0.531	B;B;B;B	0.34038	0.107;0.174;0.172;0.107	T	0.13361	-1.0512	9	0.87932	D	0	.	6.6988	0.23213	0.0:0.736:0.0:0.264	.	380;409;447;379	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	N	380;379;379;409;379	ENSP00000375983:K380N;ENSP00000440464:K379N;ENSP00000349861:K379N;ENSP00000340171:K409N	ENSP00000340171:K409N	K	-	3	2	ZNF573	42921830	0.152000	0.22762	0.622000	0.29159	0.793000	0.44817	0.055000	0.14229	-0.237000	0.09739	-0.966000	0.02617	AAG		PASS	0.348	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		46	211	46	211	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40903752	40903752	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:40903752G>A	ENST00000324001.7	-	7	777	c.507C>T	c.(505-507)ggC>ggT	p.G169G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	169	Arg/Lys-rich (basic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G169G(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCTTTGAGGCCCCGACGCA	0.672																																						uc002onr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(505-507)GGC>GGT		periaxin isoform 2							10.0	13.0	12.0					19																	40903752		2191	4290	6481	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903752G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.507C>T	19.37:g.40903752G>A						PRX_uc002onq.2_Silent_p.G30G|PRX_uc002ons.2_3'UTR	p.G169G	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	776	-			169			Arg/Lys-rich (basic).|Nuclear localization signal (By similarity).		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.507C>T	CCDS33028.1																																																																																				PASS	0.672	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		5	16	5	16	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41125356	41125356	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:41125356G>A	ENST00000308370.7	+	26	3373	c.3373G>A	c.(3373-3375)Gac>Aac	p.D1125N	LTBP4_ENST00000545697.1_Missense_Mutation_p.D493N|LTBP4_ENST00000204005.9_Missense_Mutation_p.D1088N|LTBP4_ENST00000243562.9_Missense_Mutation_p.D179N|LTBP4_ENST00000396819.3_Missense_Mutation_p.D1058N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1126	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.D1125N(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAAGAGTTTGACCCCATGAC	0.542																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3376-3378)GAC>AAC		latent transforming growth factor beta binding							95.0	95.0	95.0					19																	41125356		1985	4156	6141	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125356G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3373G>A	19.37:g.41125356G>A	ENSP00000311905:p.Asp1125Asn					LTBP4_uc002oog.1_Missense_Mutation_p.D1089N|LTBP4_uc002ooi.1_Missense_Mutation_p.D1059N|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.D260N|LTBP4_uc002ool.1_Missense_Mutation_p.D138N|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.D1126N	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3376	+			1126			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3376G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.264447	0.80358	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.87887	-2.31;-2.31;-1.64;-2.31;-1.62	3.86	3.86	0.44501	Epidermal growth factor-like (1);	0.000000	0.39475	N	0.001351	D	0.92401	0.7588	.	.	.	0.80722	D	1	P;D;D;D;D	0.76494	0.713;0.997;0.999;0.997;0.999	B;D;D;D;D	0.85130	0.225;0.98;0.995;0.989;0.997	D	0.91964	0.5581	9	0.39692	T	0.17	.	15.0726	0.72049	0.0:0.0:1.0:0.0	.	138;346;1058;1126;1088	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	1088;493;1125;1058;179	ENSP00000204005:D1088N;ENSP00000441054:D493N;ENSP00000311905:D1125N;ENSP00000380031:D1058N;ENSP00000243562:D179N	ENSP00000204005:D1088N	D	+	1	0	LTBP4	45817196	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.529000	0.60588	2.162000	0.67917	0.313000	0.20887	GAC		PASS	0.542	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		62	101	62	101	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41224129	41224129	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:41224129C>G	ENST00000263370.2	+	1	1122	c.1089C>G	c.(1087-1089)ttC>ttG	p.F363L	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	363					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.F363L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCTTCTTTCGACGAGTCTG	0.667																																						uc002oot.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)TTC>TTG		inositol 1,4,5-trisphosphate 3-kinase C							31.0	39.0	37.0					19																	41224129		2199	4290	6489	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41224129C>G	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1089C>G	19.37:g.41224129C>G	ENSP00000263370:p.Phe363Leu					ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	p.F363L	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1122	+			363					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1089C>G	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432378	0.62844	.	.	ENSG00000086544	ENST00000263370	.	.	.	5.49	0.6	0.17524	.	0.112011	0.64402	D	0.000010	T	0.52175	0.1718	L	0.32530	0.975	0.53688	D	0.999973	D	0.76494	0.999	D	0.65323	0.934	T	0.43572	-0.9383	9	0.36615	T	0.2	-17.3234	7.3706	0.26800	0.0:0.5375:0.0:0.4625	.	363	Q96DU7	IP3KC_HUMAN	L	363	.	ENSP00000263370:F363L	F	+	3	2	ITPKC	45915969	0.900000	0.30661	1.000000	0.80357	0.900000	0.52787	-0.230000	0.09083	0.178000	0.19917	0.491000	0.48974	TTC		PASS	0.667	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		27	123	27	123	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41245400	41245400	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:41245400G>A	ENST00000263370.2	+	7	2020	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	C19orf54_ENST00000594163.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	663					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E663K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGCAACCGTGAGGACGGCTA	0.637																																						uc002oot.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)GAG>AAG		inositol 1,4,5-trisphosphate 3-kinase C							35.0	33.0	34.0					19																	41245400		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41245400G>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1987G>A	19.37:g.41245400G>A	ENSP00000263370:p.Glu663Lys						p.E663K	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	2020	+			663					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.1987G>A	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440772	0.83993	.	.	ENSG00000086544	ENST00000263370	T	0.20598	2.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68081	-0.5503	10	0.87932	D	0	-28.7605	17.6734	0.88224	0.0:0.0:1.0:0.0	.	663	Q96DU7	IP3KC_HUMAN	K	663	ENSP00000263370:E663K	ENSP00000263370:E663K	E	+	1	0	ITPKC	45937240	1.000000	0.71417	0.869000	0.34112	0.956000	0.61745	9.601000	0.98297	2.779000	0.95612	0.655000	0.94253	GAG		PASS	0.637	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		12	33	12	33	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44833689	44833689	+	Silent	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:44833689G>T	ENST00000337401.4	-	5	727	c.639C>A	c.(637-639)gtC>gtA	p.V213V	ZNF112_ENST00000354340.4_Silent_p.V207V|ZNF112_ENST00000536500.1_Silent_p.V230V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	213					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.V207V(1)|p.V213V(1)									AGAGCCAACTGACACTGTCAC	0.358																																						uc010ejj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(637-639)GTC>GTA		zinc finger protein 228 isoform 1							122.0	118.0	119.0					19																	44833689		2203	4300	6503	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44833689G>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.639C>A	19.37:g.44833689G>T						ZFP112_uc002ozc.3_Silent_p.V207V|ZFP112_uc010xwy.1_Silent_p.V230V|ZFP112_uc010xwz.1_Silent_p.V212V	p.V213V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	752	-			213					A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.639C>A	CCDS54276.1																																																																																				PASS	0.358	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		111	218	111	218	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47570093	47570093	+	Silent	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:47570093G>A	ENST00000253048.5	-	15	3469	c.3432C>T	c.(3430-3432)agC>agT	p.S1144S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1144							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1144S(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGCTGATACCGCTCAGCACAC	0.716																																						uc002pga.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)	6						c.(3430-3432)AGC>AGT		zinc finger CCCH-type containing 4							15.0	19.0	17.0					19																	47570093		2017	4162	6179	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570093G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3432C>T	19.37:g.47570093G>A						ZC3H4_uc002pgb.1_RNA	p.S1144S	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3470	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1144					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.3432C>T	CCDS42582.1																																																																																				PASS	0.716	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	11	7	11	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823920	47823920	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:47823920A>C	ENST00000355085.3	+	2	908	c.886A>C	c.(886-888)Aac>Cac	p.N296H		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	296					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.N296H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTGCTGCATCAACCCCATCAT	0.582																																						uc002pgj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(886-888)AAC>CAC		complement component 5 receptor 1							139.0	110.0	120.0					19																	47823920		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823920A>C		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.886A>C	19.37:g.47823920A>C	ENSP00000347197:p.Asn296His						p.N296H	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	935	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	296			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000355085.3	37	c.886A>C	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165938	0.78339	.	.	ENSG00000197405	ENST00000355085	D	0.85629	-2.01	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.94961	0.8370	H	0.97214	3.96	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.96466	0.9345	10	0.87932	D	0	.	13.7506	0.62906	1.0:0.0:0.0:0.0	.	296	P21730	C5AR_HUMAN	H	296	ENSP00000347197:N296H	ENSP00000347197:N296H	N	+	1	0	C5AR1	52515760	1.000000	0.71417	0.980000	0.43619	0.700000	0.40528	9.193000	0.94954	1.942000	0.56320	0.391000	0.25812	AAC		PASS	0.582	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		7	280	7	280	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51165684	51165684	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:51165684C>T	ENST00000293441.1	-	23	6042	c.6024G>A	c.(6022-6024)gaG>gaA	p.E2008E	SHANK1_ENST00000483981.2_5'UTR|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.E1999E|SHANK1_ENST00000391814.1_Silent_p.E2016E|SHANK1_ENST00000391813.1_Silent_p.E1395E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2008					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.E2008E(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGACCTTGTGCTCCGAGGCGG	0.716																																						uc002psx.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(6022-6024)GAG>GAA		SH3 and multiple ankyrin repeat domains 1							13.0	13.0	13.0					19																	51165684		2165	4252	6417	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165684C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6024G>A	19.37:g.51165684C>T						SHANK1_uc002psw.1_Silent_p.E1392E	p.E2008E	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6043	-		all_neural(266;0.057)	2008					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.6024G>A	CCDS12799.1																																																																																				PASS	0.716	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		3	9	3	9	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54745997	54745997	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr19:54745997G>T	ENST00000396365.2	-	3	299	c.260C>A	c.(259-261)tCc>tAc	p.S87Y	LILRB3_ENST00000407860.2_Missense_Mutation_p.S87Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.S87Y|LILRA6_ENST00000391735.3_Missense_Mutation_p.S87Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.S87Y|LILRA6_ENST00000440558.2_Missense_Mutation_p.S87Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.S87Y	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	87					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S87Y(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGTCATGGATGGGATGGA	0.567																																						uc010erh.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(259-261)TCC>TAC		leukocyte immunoglobulin-like receptor,							361.0	310.0	327.0					19																	54745997		2201	4299	6500	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54745997G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.260C>A	19.37:g.54745997G>T	ENSP00000379651:p.Ser87Tyr					LILRA6_uc002qew.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeh.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S87Y|LILRA6_uc002qek.1_Missense_Mutation_p.S87Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.S87Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S87Y|LILRB3_uc002qep.1_Missense_Mutation_p.S87Y|LILRB3_uc002qeq.1_Missense_Mutation_p.S87Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S87Y|LILRA6_uc010yep.1_Missense_Mutation_p.S87Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S87Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.S87Y|LILRA6_uc002qev.1_5'Flank	p.S87Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	384	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		87			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.260C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.010047	0.00426	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83	3.4	-6.8	0.01709	Immunoglobulin-like fold (1);	2.686780	0.01232	N	0.008368	T	0.10680	0.0261	L	0.38531	1.155	0.09310	N	1	B;B;P;B;P;P;B;B;P;P	0.51933	0.137;0.022;0.468;0.249;0.804;0.949;0.031;0.404;0.758;0.608	B;B;B;B;B;P;B;B;P;B	0.49665	0.05;0.015;0.445;0.141;0.318;0.618;0.038;0.084;0.562;0.303	T	0.31251	-0.9950	10	0.15952	T	0.53	.	4.4635	0.11678	0.399:0.0:0.2994:0.3016	.	87;87;87;87;87;87;87;87;87;87	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	Y	87	ENSP00000384274:S87Y;ENSP00000390120:S87Y;ENSP00000270464:S87Y;ENSP00000411227:S87Y;ENSP00000375615:S87Y;ENSP00000379651:S87Y;ENSP00000245621:S87Y	ENSP00000245621:S87Y	S	-	2	0	LILRB3;LILRA6	59437809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.719000	0.00194	-3.304000	0.00192	-1.109000	0.02080	TCC		PASS	0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		64	503	64	503	---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2443759	2443759	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr20:2443759T>C	ENST00000438552.2	-	5	697	c.535A>G	c.(535-537)Atg>Gtg	p.M179V	SNRPB_ENST00000339610.6_Missense_Mutation_p.M100V|SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_Missense_Mutation_p.M179V	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	179	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.M179V(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCGGCCCATAGGTGGGGGA	0.577																																						uc002wfz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)ATG>GTG		small nuclear ribonucleoprotein polypeptide B/B'							54.0	65.0	61.0					20																	2443759		2190	4275	6465	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2443759T>C		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.535A>G	20.37:g.2443759T>C	ENSP00000412566:p.Met179Val					SNRPB_uc002wga.1_Missense_Mutation_p.M179V|SNRPB_uc010zpv.1_Missense_Mutation_p.M100V|SNRPB_uc002wgb.2_Missense_Mutation_p.M179V|SNORD119_uc010gam.1_5'Flank	p.M179V	NM_198216	NP_937859	P14678	RSMB_HUMAN			5	698	-			179			|Repeat-rich region.		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.535A>G	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	T	6.110	0.388544	0.11581	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.44881	0.93;0.91	6.17	6.17	0.99709	.	0.070170	0.85682	D	0.000000	T	0.40498	0.1119	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.31435	0.323;0.323;0.323;0.323	B;B;B;B	0.38194	0.267;0.267;0.267;0.267	T	0.36696	-0.9737	10	0.87932	D	0	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	100;179;179;179	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	V	179;179;179;100	ENSP00000370746:M179V;ENSP00000412566:M179V	ENSP00000303591:M179V	M	-	1	0	SNRPB	2391759	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.555000	0.82223	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.577	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			79	291	79	291	---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2635176	2635176	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr20:2635176G>C	ENST00000329276.5	+	4	841	c.325G>C	c.(325-327)Ggg>Cgg	p.G109R	SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	109					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.G109R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGAGGAGTTAGGGTACAACTG	0.522																																						uc002wgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(325-327)GGG>CGG		nucleolar protein 5A							128.0	120.0	123.0					20																	2635176		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635176G>C	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.325G>C	20.37:g.2635176G>C	ENSP00000370589:p.Gly109Arg					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.G109R	NM_006392	NP_006383	O00567	NOP56_HUMAN			4	378	+			109					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.325G>C	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301292	0.60195	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.60299	0.2;0.8	5.79	5.79	0.91817	.	0.214011	0.52532	D	0.000069	T	0.63745	0.2537	M	0.81497	2.545	0.44627	D	0.997606	P	0.50617	0.937	P	0.46320	0.512	T	0.69584	-0.5106	10	0.66056	D	0.02	-25.1444	10.8827	0.46948	0.085:0.0:0.915:0.0	.	109	O00567	NOP56_HUMAN	R	109	ENSP00000370589:G109R;ENSP00000388497:G109R	ENSP00000370589:G109R	G	+	1	0	NOP56	2583176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.814000	0.69208	2.725000	0.93324	0.555000	0.69702	GGG		PASS	0.522	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		45	186	45	186	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20177306	20177306	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr20:20177306T>A	ENST00000245957.5	+	16	1759	c.1683T>A	c.(1681-1683)ttT>ttA	p.F561L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		561								p.F561L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCATCACTTTGCCCTCAACC	0.453																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1681-1683)TTT>TTA		hypothetical protein LOC26074							155.0	132.0	139.0					20																	20177306		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177306T>A																												ENST00000245957.5:c.1683T>A	20.37:g.20177306T>A	ENSP00000245957:p.Phe561Leu					C20orf26_uc010zse.1_Missense_Mutation_p.F541L	p.F561L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1759	+			561					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1683T>A	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.16|15.16	2.752247|2.752247	0.49362|0.49362	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.15487|.	2.42|.	5.83|5.83	2.13|2.13	0.27403|0.27403	.|.	0.124236|.	0.56097|.	N|.	0.000039|.	T|.	0.54287|.	0.1849|.	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	B;B|.	0.27997|.	0.142;0.197|.	B;B|.	0.30572|.	0.117;0.058|.	T|.	0.41270|.	-0.9518|.	10|.	0.22109|.	T|.	0.4|.	.|.	6.716|6.716	0.23304|0.23304	0.0:0.1413:0.1275:0.7311|0.0:0.1413:0.1275:0.7311	.|.	541;561|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	L|X	501;129;541;561|101	ENSP00000245957:F561L|.	ENSP00000245957:F561L|.	F|L	+|+	3|2	2|0	C20orf26|C20orf26	20125306|20125306	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.934000|0.934000	0.57294|0.57294	0.695000|0.695000	0.25527|0.25527	0.076000|0.076000	0.16826|0.16826	0.533000|0.533000	0.62120|0.62120	TTT|TTG		PASS	0.453	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			82	117	82	117	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35425292	35425292	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr20:35425292A>C	ENST00000357779.3	-	13	3087	c.2761T>G	c.(2761-2763)Tta>Gta	p.L921V	SOGA1_ENST00000237536.4_Missense_Mutation_p.L1159V|SOGA1_ENST00000456801.2_Missense_Mutation_p.L762V|SOGA1_ENST00000279034.6_Missense_Mutation_p.L921V			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	921					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.L1159V(3)|p.L921V(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CACCTCTTTAAACCATTTCCT	0.587																																						uc002xgd.1																			4	Substitution - Missense(4)		lung(4)		0						c.(2761-2763)TTA>GTA		hypothetical protein LOC140710 isoform 2							108.0	117.0	114.0					20																	35425292		2129	4233	6362	SO:0001583	missense	140710							g.chr20:35425292A>C	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2761T>G	20.37:g.35425292A>C	ENSP00000350424:p.Leu921Val					C20orf117_uc002xge.1_RNA	p.L921V	NM_199181	NP_954650	O94964	K0889_HUMAN			13	3088	-		Myeloproliferative disorder(115;0.00874)	921					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2761T>G		.	.	.	.	.	.	.	.	.	.	A	9.400	1.077653	0.20227	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.15	2.92	0.33932	.	0.245140	0.33199	N	0.005162	T	0.61236	0.2331	M	0.69358	2.11	0.31190	N	0.701035	D	0.67145	0.996	D	0.75484	0.986	T	0.63111	-0.6710	10	0.54805	T	0.06	-0.4856	7.7378	0.28825	0.8313:0.0:0.1687:0.0	.	921	O94964-4	.	V	1159;921;762;921	ENSP00000237536:L1159V;ENSP00000279034:L921V;ENSP00000413886:L762V;ENSP00000350424:L921V	ENSP00000237536:L1159V	L	-	1	2	KIAA0889	34858706	0.968000	0.33430	0.785000	0.31869	0.074000	0.17049	1.955000	0.40372	0.432000	0.26286	-0.411000	0.06167	TTA		PASS	0.587	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		23	103	23	103	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47864358	47864358	+	Missense_Mutation	SNP	C	C	G	rs559641061		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr20:47864358C>G	ENST00000396105.1	-	14	5449	c.5203G>C	c.(5203-5205)Gaa>Caa	p.E1735Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1735Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1735							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E1735Q(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGACCTGTTCTAGTCGAGTC	0.493																																						uc002xui.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(5203-5205)GAA>CAA		zinc finger, NFX1-type containing 1							132.0	128.0	129.0					20																	47864358		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864358C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5203G>C	20.37:g.47864358C>G	ENSP00000379412:p.Glu1735Gln						p.E1735Q	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5450	-			1735					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.5203G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.774368	0.00640	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.86562	-2.14;-2.14	6.17	4.04	0.47022	.	0.628528	0.17721	N	0.164230	T	0.79610	0.4475	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.61758	-0.6997	10	0.16420	T	0.52	-5.6072	6.323	0.21229	0.0:0.6665:0.1507:0.1828	.	1735	Q9P2E3	ZNFX1_HUMAN	Q	1735	ENSP00000360817:E1735Q;ENSP00000379412:E1735Q	ENSP00000360817:E1735Q	E	-	1	0	ZNFX1	47297765	0.000000	0.05858	0.041000	0.18516	0.249000	0.25844	0.525000	0.22956	0.868000	0.35678	-0.136000	0.14681	GAA		PASS	0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		96	142	96	142	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	30909641	30909641	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr21:30909641C>G	ENST00000389125.3	-	16	2752	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	GRIK1_ENST00000399914.1_Missense_Mutation_p.K905N|GRIK1_ENST00000535441.1_Missense_Mutation_p.K893N|GRIK1_ENST00000327783.4_Missense_Mutation_p.K920N|GRIK1_ENST00000399913.1_Missense_Mutation_p.K891N	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.K876N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTGACTTTTTCTTTATTTTTT	0.393																																						uc011acs.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2671-2673)AAG>AAC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						71.0	68.0	69.0					21																	30909641		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30909641C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2628G>C	21.37:g.30909641C>G	ENSP00000373777:p.Lys876Asn					GRIK1_uc002ynn.2_Missense_Mutation_p.K876N|GRIK1_uc011act.1_Missense_Mutation_p.K752N	p.K891N	NM_000830	NP_000821	P39086	GRIK1_HUMAN			17	3137	-			Error:Variant_position_missing_in_P39086_after_alignment					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000389125.3	37	c.2673G>C	CCDS33530.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991814	0.54041	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441	T;T;T;T;T	0.15487	2.42;2.7;2.7;2.44;2.7	4.55	4.55	0.56014	.	3.698620	0.00669	N	0.000638	T	0.31765	0.0807	L	0.43923	1.385	0.80722	D	1	B;P;P	0.44429	0.444;0.835;0.825	B;B;P	0.47626	0.15;0.35;0.552	T	0.25363	-1.0134	10	0.56958	D	0.05	.	18.2125	0.89874	0.0:1.0:0.0:0.0	.	905;891;876	E7EPY9;E9PD61;P39086-2	.;.;.	N	920;876;891;905;893	ENSP00000327687:K920N;ENSP00000373777:K876N;ENSP00000382797:K891N;ENSP00000382798:K905N;ENSP00000446326:K893N	ENSP00000327687:K920N	K	-	3	2	GRIK1	29831512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.235000	0.65348	2.821000	0.97095	0.484000	0.47621	AAG		PASS	0.393	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171978.1			52	41	52	41	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33065678	33065678	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr21:33065678C>A	ENST00000286835.7	-	12	1824	c.1442G>T	c.(1441-1443)aGa>aTa	p.R481I	SCAF4_ENST00000434667.3_Missense_Mutation_p.R466I|SCAF4_ENST00000399804.1_Missense_Mutation_p.R481I	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	481						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R481I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCGATCCCGTCTTTCTTGAGA	0.483																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)AGA>ATA		splicing factor, arginine/serine-rich 15 isoform							117.0	111.0	113.0					21																	33065678		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33065678C>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1442G>T	21.37:g.33065678C>A	ENSP00000286835:p.Arg481Ile					SFRS15_uc002ype.2_Missense_Mutation_p.R481I|SFRS15_uc010glu.2_Missense_Mutation_p.R466I|SFRS15_uc002ypf.1_Missense_Mutation_p.R155I	p.R481I	NM_020706	NP_065757	O95104	SFR15_HUMAN			12	1868	-			481					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1442G>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727052	0.89390	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.30714	1.52;1.52;1.52	5.21	5.21	0.72293	.	0.060712	0.64402	D	0.000003	T	0.58438	0.2122	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.85130	0.994;0.991;0.997;0.994	T	0.62680	-0.6803	10	0.72032	D	0.01	-16.3824	18.752	0.91819	0.0:1.0:0.0:0.0	.	466;481;481;481	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	I	466;481;481	ENSP00000402377:R466I;ENSP00000286835:R481I;ENSP00000382703:R481I	ENSP00000286835:R481I	R	-	2	0	SCAF4	31987549	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.806000	0.86020	2.418000	0.82041	0.563000	0.77884	AGA		PASS	0.483	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		51	97	51	97	---	---	---	---
SIM2	6493	broad.mit.edu	37	21	38072165	38072165	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr21:38072165C>T	ENST00000290399.6	+	1	732	c.119C>T	c.(118-120)gCg>gTg	p.A40V	SIM2_ENST00000430056.3_Missense_Mutation_p.A40V|AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	40	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A40V(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTGGACAAAGCGTCCATCATC	0.647																																						uc002yvr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(118-120)GCG>GTG		single-minded homolog 2 long isoform							97.0	74.0	82.0					21																	38072165		2200	4298	6498	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38072165C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.119C>T	21.37:g.38072165C>T	ENSP00000290399:p.Ala40Val					SIM2_uc002yvp.2_Missense_Mutation_p.A40V|SIM2_uc002yvq.2_Missense_Mutation_p.A40V	p.A40V	NM_005069	NP_005060	Q14190	SIM2_HUMAN			1	175	+			40			Helix-loop-helix motif.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.119C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	36	5.868377	0.97043	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;D	0.98234	3.12;-4.81	4.93	4.93	0.64822	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99368	1.0919	10	0.87932	D	0	.	18.1658	0.89724	0.0:1.0:0.0:0.0	.	40;40	Q14190;Q14190-2	SIM2_HUMAN;.	V	40	ENSP00000290399:A40V;ENSP00000404176:A40V	ENSP00000290399:A40V	A	+	2	0	SIM2	36994035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.610000	0.82949	2.288000	0.76882	0.563000	0.77884	GCG		PASS	0.647	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		10	4	10	4	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309157	38309157	+	Silent	SNP	A	A	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr21:38309157A>T	ENST00000399120.1	-	5	1818	c.588T>A	c.(586-588)atT>atA	p.I196I	HLCS_ENST00000336648.4_Silent_p.I196I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	196					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.I196I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGTGGTAGAGAATATAACTGT	0.577																																						uc010gnb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(586-588)ATT>ATA		holocarboxylase synthetase	Biotin(DB00121)						70.0	72.0	72.0					21																	38309157		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309157A>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.588T>A	21.37:g.38309157A>T						HLCS_uc002yvs.2_Silent_p.I196I|HLCS_uc010gnc.1_Silent_p.I343I	p.I196I	NM_000411	NP_000402	P50747	BPL1_HUMAN			4	1789	-		Myeloproliferative disorder(46;0.0422)	196					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.588T>A	CCDS13647.1																																																																																				PASS	0.577	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			18	64	18	64	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47704496	47704496	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr21:47704496C>G	ENST00000397708.1	-	2	959	c.705G>C	c.(703-705)aaG>aaC	p.K235N	MCM3AP_ENST00000291688.1_Missense_Mutation_p.K235N|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	235	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.K235N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TAGGTCCTCTCTTCTCTTCCT	0.393																																						uc002zir.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(703-705)AAG>AAC		minichromosome maintenance complex component 3							85.0	90.0	88.0					21																	47704496		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704496C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.705G>C	21.37:g.47704496C>G	ENSP00000380820:p.Lys235Asn					C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	p.K235N	NM_003906	NP_003897	O60318	MCM3A_HUMAN			1	741	-	Breast(49;0.112)		235					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.705G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243072	0.58995	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18657	2.2;2.2	5.42	3.61	0.41365	.	0.280522	0.39909	N	0.001238	T	0.24392	0.0591	L	0.29908	0.895	0.33433	D	0.581326	D	0.76494	0.999	D	0.63488	0.915	T	0.25222	-1.0138	10	0.21014	T	0.42	-35.0162	6.0716	0.19893	0.0:0.6647:0.0:0.3353	.	235	O60318	MCM3A_HUMAN	N	235	ENSP00000380820:K235N;ENSP00000291688:K235N	ENSP00000291688:K235N	K	-	3	2	MCM3AP	46528924	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	0.724000	0.25954	1.291000	0.44653	0.563000	0.77884	AAG		PASS	0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		32	108	32	108	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21101933	21101933	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:21101933C>T	ENST00000572273.1	-	29	3357	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PI4KA_ENST00000255882.6_Missense_Mutation_p.A1101T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1043					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.A1043T(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGGCCATGGCCAGCCCCGTG	0.483																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(3127-3129)GCC>ACC		phosphatidylinositol 4-kinase type 3 alpha							154.0	120.0	131.0					22																	21101933		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21101933C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3127G>A	22.37:g.21101933C>T	ENSP00000458238:p.Ala1043Thr						p.A1043T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		29	3358	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1043					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3127G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.439973	0.96168	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.79475	2.455	0.80722	D	1	P	0.52316	0.952	P	0.52957	0.714	T	0.79105	-0.1940	9	0.62326	D	0.03	-21.6476	18.2255	0.89916	0.0:1.0:0.0:0.0	.	1043	P42356	PI4KA_HUMAN	T	1043	.	ENSP00000255882:A1043T	A	-	1	0	PI4KA	19431933	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.813000	0.86123	2.309000	0.77851	0.467000	0.42956	GCC		PASS	0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	142	4	142	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23962792	23962792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:23962792G>T	ENST00000317749.5	-	5	692	c.395C>A	c.(394-396)tCa>tAa	p.S132*		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		132	Asp-rich.							p.S132*(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTGGACACGTGACGGTAAAAT	0.393																																						uc002zxf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(394-396)TCA>TAA		hypothetical protein LOC51233							216.0	186.0	195.0					22																	23962792		1897	4114	6011	SO:0001587	stop_gained	51233							g.chr22:23962792G>T																												ENST00000317749.5:c.395C>A	22.37:g.23962792G>T	ENSP00000316137:p.Ser132*						p.S132*	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			5	672	-			132			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	Nonsense_Mutation	SNP	ENST00000317749.5	37	c.395C>A	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.982712	0.53827	.	.	ENSG00000189269	ENST00000317749	.	.	.	0.776	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5042	0.11879	0.4777:0.0:0.5223:0.0	.	.	.	.	X	132	.	ENSP00000316137:S132X	S	-	2	0	C22orf43	22292792	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.615000	0.05597	-0.869000	0.04052	-0.804000	0.03201	TCA		PASS	0.393	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			48	196	48	196	---	---	---	---
FOXRED2	80020	broad.mit.edu	37	22	36900335	36900335	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:36900335C>G	ENST00000397224.4	-	4	952	c.859G>C	c.(859-861)Gcc>Ccc	p.A287P	FOXRED2_ENST00000216187.6_Missense_Mutation_p.A287P|FOXRED2_ENST00000397223.4_Missense_Mutation_p.A287P	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	287					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.A287P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCAGGATGGCCAGATCCGTC	0.567																																						uc003apn.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(859-861)GCC>CCC		FAD-dependent oxidoreductase domain containing 2							95.0	74.0	81.0					22																	36900335		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900335C>G	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.859G>C	22.37:g.36900335C>G	ENSP00000380401:p.Ala287Pro					FOXRED2_uc003apo.3_Missense_Mutation_p.A287P|FOXRED2_uc003app.3_Missense_Mutation_p.A287P	p.A287P	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			3	967	-			287					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.859G>C	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372646	0.82573	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15603	2.41;2.41;2.41	5.01	5.01	0.66863	.	0.153798	0.56097	D	0.000022	T	0.31231	0.0790	M	0.76838	2.35	0.80722	D	1	D	0.60575	0.988	P	0.47299	0.543	T	0.15435	-1.0437	10	0.48119	T	0.1	-37.1534	18.5148	0.90931	0.0:1.0:0.0:0.0	.	287	Q8IWF2	FXRD2_HUMAN	P	287	ENSP00000380401:A287P;ENSP00000216187:A287P;ENSP00000380400:A287P	ENSP00000216187:A287P	A	-	1	0	FOXRED2	35230281	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.768000	0.74980	2.606000	0.88127	0.655000	0.94253	GCC		PASS	0.567	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		30	132	30	132	---	---	---	---
PVALB	5816	broad.mit.edu	37	22	37211230	37211230	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:37211230C>G	ENST00000216200.5	-	3	166	c.111G>C	c.(109-111)aaG>aaC	p.K37N	CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.K37N|PVALB_ENST00000404171.1_Missense_Mutation_p.K5N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	37					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)	p.K37N(1)		large_intestine(1)|lung(1)|skin(1)	3						CACTCTTTTTCTTCAGGCCGA	0.522																																						uc010gwz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(109-111)AAG>AAC		parvalbumin							143.0	113.0	124.0					22																	37211230		2203	4300	6503	SO:0001583	missense	5816						calcium ion binding	g.chr22:37211230C>G		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.111G>C	22.37:g.37211230C>G	ENSP00000216200:p.Lys37Asn					PVALB_uc003apx.2_Missense_Mutation_p.K37N	p.K37N	NM_002854	NP_002845	P20472	PRVA_HUMAN			2	141	-			37					B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	c.111G>C	CCDS13933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.66|12.66	2.004350|2.004350	0.35320|0.35320	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735|ENST00000406910	T;T;T;T|.	0.78707|.	-1.2;-1.2;-1.16;-0.98|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.115994|.	0.64402|.	D|.	0.000011|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.50993|0.50993	1.605|1.605	0.43399|0.43399	D|D	0.995529|0.995529	P|.	0.36768|.	0.569|.	B|.	0.43809|.	0.432|.	T|T	0.57441|0.57441	-0.7811|-0.7811	10|5	0.42905|.	T|.	0.14|.	-23.2321|-23.2321	10.013|10.013	0.41997|0.41997	0.0:0.875:0.0:0.125|0.0:0.875:0.0:0.125	.|.	37|.	P20472|.	PRVA_HUMAN|.	N|T	37;37;5;37|36	ENSP00000400247:K37N;ENSP00000216200:K37N;ENSP00000386089:K5N;ENSP00000406977:K37N|.	ENSP00000216200:K37N|.	K|R	-|-	3|2	2|0	PVALB|PVALB	35541176|35541176	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.643000|0.643000	0.38383|0.38383	3.469000|3.469000	0.53093|0.53093	2.438000|2.438000	0.82558|0.82558	0.561000|0.561000	0.74099|0.74099	AAG|AGA		PASS	0.522	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		3	138	3	138	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121718	38121718	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:38121718C>A	ENST00000406386.3	+	7	3410	c.3155C>A	c.(3154-3156)cCc>cAc	p.P1052H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1052					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.P1052H(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)					AGTGAACCGCCCCACCACGAG	0.672																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3154-3156)CCC>CAC		TRIO and F-actin binding protein isoform 6							58.0	68.0	65.0					22																	38121718		1900	4094	5994	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.chr22:38121718C>A	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.3155C>A	22.37:g.38121718C>A	ENSP00000384312:p.Pro1052His					TRIOBP_uc003atu.2_Missense_Mutation_p.P880H|TRIOBP_uc003atq.1_Missense_Mutation_p.P1052H|TRIOBP_uc003ats.1_Missense_Mutation_p.P880H	p.P1052H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3426	+	Melanoma(58;0.0574)		1052					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3155C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567897	0.28003	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.27720	1.65	4.85	3.81	0.43845	.	.	.	.	.	T	0.32376	0.0827	L	0.36672	1.1	0.54753	D	0.999987	D	0.63046	0.992	P	0.54401	0.751	T	0.03784	-1.1004	9	0.41790	T	0.15	.	7.1902	0.25821	0.0:0.869:0.0:0.131	.	1052	Q9H2D6	TARA_HUMAN	H	1052	ENSP00000384312:P1052H	ENSP00000384312:P1052H	P	+	2	0	TRIOBP	36451664	0.944000	0.32072	0.346000	0.25655	0.042000	0.13812	1.725000	0.38074	1.180000	0.42898	0.449000	0.29647	CCC		PASS	0.672	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			95	85	95	85	---	---	---	---
TMEM184B	25829	broad.mit.edu	37	22	38621457	38621457	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:38621457G>A	ENST00000361906.3	-	7	969	c.761C>T	c.(760-762)tCc>tTc	p.S254F	TMEM184B_ENST00000504337.1_5'Flank|TMEM184B_ENST00000361684.4_Missense_Mutation_p.S254F	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	254						integral component of membrane (GO:0016021)		p.S254F(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AAAGATGACGGACTTGACCAT	0.617																																						uc003avf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)TCC>TTC		transmembrane protein 184B							142.0	132.0	135.0					22																	38621457		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38621457G>A	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.761C>T	22.37:g.38621457G>A	ENSP00000355210:p.Ser254Phe					TMEM184B_uc003avg.1_Missense_Mutation_p.S254F|TMEM184B_uc003avh.1_Missense_Mutation_p.S188F|TMEM184B_uc010gxl.1_RNA	p.S254F	NM_012264	NP_036396	Q9Y519	T184B_HUMAN			7	985	-	Melanoma(58;0.045)		254			Helical; (Potential).		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.761C>T	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596947	0.87055	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.46451	0.87;0.87	5.85	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.77313	2.365	0.80722	D	1	B	0.27140	0.169	B	0.34242	0.178	T	0.53634	-0.8411	10	0.56958	D	0.05	.	14.5127	0.67800	0.0696:0.0:0.9304:0.0	.	254	Q9Y519	T184B_HUMAN	F	254	ENSP00000355210:S254F;ENSP00000354441:S254F	ENSP00000354441:S254F	S	-	2	0	TMEM184B	36951403	1.000000	0.71417	0.894000	0.35097	0.953000	0.61014	9.869000	0.99810	1.477000	0.48234	0.655000	0.94253	TCC		PASS	0.617	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		51	109	51	109	---	---	---	---
RPL3	6122	broad.mit.edu	37	22	39709250	39709250	+	Silent	SNP	G	G	A	rs376619725		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:39709250G>A	ENST00000216146.4	-	9	1286	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	RPL3_ENST00000401609.1_Silent_p.T319T|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	371					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T371T(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CAAACTTGGAGGTGGTGTCAA	0.572																																						uc003axi.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|kidney(1)	2						c.(1111-1113)ACC>ACT		ribosomal protein L3 isoform a							27.0	27.0	27.0					22																	39709250		2203	4296	6499	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39709250G>A	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1113C>T	22.37:g.39709250G>A						RPL3_uc003axh.2_Silent_p.T322T|RPL3_uc003axj.2_Silent_p.T219T|RPL3_uc010gxx.2_Intron|RPL3_uc003axg.2_Silent_p.T319T|RPL3_uc003axk.1_Silent_p.T219T	p.T371T	NM_000967	NP_000958	P39023	RL3_HUMAN			9	1181	-	Melanoma(58;0.04)		371					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.1113C>T	CCDS13988.1																																																																																				PASS	0.572	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		11	22	11	22	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40661018	40661018	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:40661018G>T	ENST00000454349.2	+	5	995	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D262Y|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	262	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTGGAAATCTGACCCTAAGGC	0.463																																						uc011aor.1																			0					0						c.(784-786)GAC>TAC		trinucleotide repeat containing 6B isoform 1							107.0	103.0	104.0					22																	40661018		1896	4121	6017	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661018G>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.784G>T	22.37:g.40661018G>T	ENSP00000401946:p.Asp262Tyr					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.D262Y|TNRC6B_uc003ayo.2_Missense_Mutation_p.D66Y	p.D262Y	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	995	+			262					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.784G>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219285	0.39201	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.58060	0.36;0.36	4.93	4.93	0.64822	.	0.258863	0.38837	N	0.001545	T	0.58438	0.2122	L	0.34521	1.04	0.40209	D	0.977608	D;D;D	0.64830	0.989;0.989;0.994	P;P;P	0.56865	0.726;0.648;0.808	T	0.64054	-0.6497	10	0.66056	D	0.02	-7.3229	17.1571	0.86794	0.0:0.0:1.0:0.0	.	262;262;262	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	Y	262	ENSP00000401946:D262Y;ENSP00000338371:D262Y	ENSP00000338371:D262Y	D	+	1	0	TNRC6B	38990964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.998000	0.93550	2.281000	0.76405	0.650000	0.86243	GAC		PASS	0.463	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				23	140	23	140	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40676076	40676076	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:40676076G>C	ENST00000454349.2	+	10	3551	c.3340G>C	c.(3340-3342)Gat>Cat	p.D1114H	TNRC6B_ENST00000402203.1_Missense_Mutation_p.D367H|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D1061H|TNRC6B_ENST00000301923.9_Missense_Mutation_p.D367H|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1114					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D1128H(1)|p.D367H(1)		breast(1)	1						CATGAGGAAGGATCGATCTGG	0.403																																						uc011aor.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3340-3342)GAT>CAT		trinucleotide repeat containing 6B isoform 1							167.0	166.0	166.0					22																	40676076		1855	4097	5952	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40676076G>C	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3340G>C	22.37:g.40676076G>C	ENSP00000401946:p.Asp1114His					TNRC6B_uc003aym.2_Missense_Mutation_p.D367H|TNRC6B_uc003ayn.3_Missense_Mutation_p.D1061H|TNRC6B_uc003ayo.2_Missense_Mutation_p.D918H	p.D1114H	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			10	3551	+			1114					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.3340G>C	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.232631|4.232631	0.79688|0.79688	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.32272|.	1.46;1.46;2.74;2.71|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.099447|.	0.64402|.	D|.	0.000001|.	T|T	0.55673|0.55673	0.1935|0.1935	N|N	0.19112|0.19112	0.55|0.55	0.53005|0.53005	D|D	0.999962|0.999962	D;P;P;P|.	0.76494|.	0.999;0.838;0.899;0.955|.	P;B;P;P|.	0.62740|.	0.906;0.436;0.639;0.8|.	T|T	0.47484|0.47484	-0.9114|-0.9114	10|5	0.52906|.	T|.	0.07|.	-6.4776|-6.4776	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1114;1061;1061;367|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	H|S	367;367;1114;1061;1061|856	ENSP00000306759:D367H;ENSP00000384795:D367H;ENSP00000401946:D1114H;ENSP00000338371:D1061H|.	ENSP00000306759:D367H|.	D|R	+|+	1|3	0|2	TNRC6B|TNRC6B	39006022|39006022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.066000|9.066000	0.93949|0.93949	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GAT|AGG		PASS	0.403	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				6	382	6	382	---	---	---	---
PNPLA5	150379	broad.mit.edu	37	22	44285245	44285245	+	Missense_Mutation	SNP	G	G	C	rs374016542		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:44285245G>C	ENST00000597664.1	-	4	795	c.666C>G	c.(664-666)ttC>ttG	p.F222L	PNPLA5_ENST00000593866.1_Missense_Mutation_p.F108L|PNPLA5_ENST00000216177.4_Missense_Mutation_p.F222L|PNPLA5_ENST00000381198.2_Missense_Mutation_p.F108L			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	222					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.F222L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGAGCCCCAGGAAGAAGTTCT	0.567																																						uc003beg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)TTC>TTG		patatin-like phospholipase domain containing 5		G	LEU/PHE,LEU/PHE	0,4406		0,0,2203	87.0	89.0	88.0		324,666	-1.3	0.0	22		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PNPLA5	NM_001177675.1,NM_138814.3	22,22	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	108/316,222/430	44285245	2,13004	2203	4300	6503	SO:0001583	missense	150379				lipid catabolic process		hydrolase activity	g.chr22:44285245G>C	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.666C>G	22.37:g.44285245G>C	ENSP00000471069:p.Phe222Leu					PNPLA5_uc011aqc.1_Missense_Mutation_p.F82L|PNPLA5_uc003beh.2_Missense_Mutation_p.F108L	p.F222L	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			4	763	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	222					B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	ENST00000597664.1	37	c.666C>G		.	.	.	.	.	.	.	.	.	.	G	11.28	1.592522	0.28357	0.0	2.33E-4	ENSG00000100341	ENST00000216177;ENST00000381198	T;T	0.76578	-1.03;1.06	4.85	-1.33	0.09172	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.956853	0.08634	N	0.916611	T	0.63977	0.2557	L	0.39020	1.185	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.002	T	0.48019	-0.9071	10	0.30854	T	0.27	-5.8092	5.6116	0.17408	0.4895:0.143:0.3675:0.0	.	108;222	Q7Z6Z6-2;Q7Z6Z6	.;PLPL5_HUMAN	L	222;108	ENSP00000216177:F222L;ENSP00000370595:F108L	ENSP00000216177:F222L	F	-	3	2	PNPLA5	42616578	0.064000	0.20934	0.000000	0.03702	0.028000	0.11728	2.018000	0.40991	-0.070000	0.12908	0.561000	0.74099	TTC		PASS	0.567	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		40	255	40	255	---	---	---	---
LDOC1L	84247	broad.mit.edu	37	22	44892926	44892926	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:44892926C>T	ENST00000341255.3	-	2	1020	c.511G>A	c.(511-513)Gca>Aca	p.A171T		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	171								p.A171T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGCAACTCTGCCAGGAACCCC	0.597																																						uc003beu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)GCA>ACA		leucine zipper, down-regulated in cancer 1-like							41.0	43.0	42.0					22																	44892926		2203	4300	6503	SO:0001583	missense	84247							g.chr22:44892926C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.511G>A	22.37:g.44892926C>T	ENSP00000340434:p.Ala171Thr						p.A171T	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	848	-		Ovarian(80;0.024)|all_neural(38;0.0416)	171					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.511G>A	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306970	0.60305	.	.	ENSG00000188636	ENST00000341255	T	0.18174	2.23	3.2	3.2	0.36748	.	0.522691	0.15786	N	0.244689	T	0.12518	0.0304	N	0.19112	0.55	0.31733	N	0.63677	P	0.51933	0.949	P	0.47251	0.542	T	0.02138	-1.1207	10	0.14252	T	0.57	-11.9895	10.1689	0.42897	0.0:1.0:0.0:0.0	.	171	Q6ICC9	LDOCL_HUMAN	T	171	ENSP00000340434:A171T	ENSP00000340434:A171T	A	-	1	0	LDOC1L	43271590	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.073000	0.50057	2.113000	0.64589	0.591000	0.81541	GCA		PASS	0.597	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		36	65	36	65	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46780531	46780531	+	Silent	SNP	C	C	A	rs200725732	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:46780531C>A	ENST00000262738.3	-	20	6791	c.6792G>T	c.(6790-6792)ccG>ccT	p.P2264P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2264					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.P2264P(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTCGAATCGCGGGACCCTGG	0.522																																						uc003bhw.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6790-6792)CCG>CCT		cadherin EGF LAG seven-pass G-type receptor 1							50.0	55.0	53.0					22																	46780531		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46780531C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6792G>T	22.37:g.46780531C>A						CELSR1_uc011arc.1_Silent_p.P585P	p.P2264P	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	20	6792	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2264			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.6792G>T	CCDS14076.1																																																																																				PASS	0.522	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		38	53	38	53	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50582559	50582559	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:50582559G>C	ENST00000262794.5	+	18	2475	c.2392G>C	c.(2392-2394)Gtc>Ctc	p.V798L	MOV10L1_ENST00000545383.1_Missense_Mutation_p.V798L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.V798L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V778L|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	798					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.V798L(1)|p.V778L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCGGATTTTAGTCTGTGCGCC	0.572																																						uc003bjj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2392-2394)GTC>CTC		MOV10-like 1 isoform 1							255.0	213.0	227.0					22																	50582559		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50582559G>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2392G>C	22.37:g.50582559G>C	ENSP00000262794:p.Val798Leu					MOV10L1_uc003bjk.3_Missense_Mutation_p.V798L|MOV10L1_uc011arp.1_Missense_Mutation_p.V778L|MOV10L1_uc003bjl.2_5'Flank	p.V798L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	18	2475	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	798					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2392G>C	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484890	0.63962	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.82	3.71	0.42584	.	0.104884	0.64402	D	0.000004	D	0.82403	0.5029	L	0.28504	0.86	0.80722	D	1	D;D;D	0.61697	0.965;0.99;0.99	P;P;P	0.58331	0.649;0.837;0.837	T	0.81302	-0.0994	10	0.46703	T	0.11	-27.2644	11.7974	0.52108	0.1463:0.0:0.8537:0.0	.	778;798;798	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	L	798;798;798;778	ENSP00000438978:V798L;ENSP00000262794:V798L;ENSP00000379199:V798L;ENSP00000438542:V778L	ENSP00000262794:V798L	V	+	1	0	MOV10L1	48924686	1.000000	0.71417	0.203000	0.23512	0.635000	0.38103	7.386000	0.79775	0.760000	0.33108	-0.136000	0.14681	GTC		PASS	0.572	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		9	559	9	559	---	---	---	---
GEMIN8	54960	broad.mit.edu	37	X	14038351	14038351	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:14038351G>C	ENST00000380523.4	-	4	636	c.318C>G	c.(316-318)atC>atG	p.I106M	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.I106M	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	106					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.I106M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TGGATGCCTGGATCCTACTGC	0.483																																						uc004cwb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)ATC>ATG		gem (nuclear organelle) associated protein 8							210.0	194.0	200.0					X																	14038351		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038351G>C	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.318C>G	X.37:g.14038351G>C	ENSP00000369895:p.Ile106Met					GEMIN8_uc004cwc.2_Missense_Mutation_p.I106M|GEMIN8_uc004cwd.2_Missense_Mutation_p.I106M	p.I106M	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	661	-			106					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.318C>G	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	6.728	0.503002	0.12822	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.43688	0.94;0.94;0.94	4.07	4.07	0.47477	.	2.490410	0.01363	N	0.012309	T	0.37100	0.0991	L	0.36672	1.1	0.09310	N	1	B	0.20780	0.048	B	0.13407	0.009	T	0.19031	-1.0318	10	0.45353	T	0.12	.	6.8155	0.23829	0.0:0.2051:0.6124:0.1825	.	106	Q9NWZ8	GEMI8_HUMAN	M	106	ENSP00000369895:I106M;ENSP00000381398:I106M;ENSP00000369894:I106M	ENSP00000369894:I106M	I	-	3	3	GEMIN8	13948272	0.001000	0.12720	0.163000	0.22734	0.130000	0.20726	0.683000	0.25349	1.610000	0.50200	0.594000	0.82650	ATC		PASS	0.483	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		77	78	77	78	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16170713	16170713	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:16170713C>G	ENST00000380289.2	+	3	1498	c.1100C>G	c.(1099-1101)tCc>tGc	p.S367C	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	367					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.S367C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACCAACCCCTCCGTGGCCACC	0.532																																						uc004cxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1099-1101)TCC>TGC		gastrin-releasing peptide receptor							168.0	154.0	159.0					X																	16170713		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170713C>G		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1100C>G	X.37:g.16170713C>G	ENSP00000369643:p.Ser367Cys						p.S367C	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1753	+	Hepatocellular(33;0.183)		367			Cytoplasmic (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.1100C>G	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394369	0.83011	.	.	ENSG00000126010	ENST00000380289	T	0.67345	-0.26	5.25	5.25	0.73442	.	0.245526	0.35646	N	0.003066	T	0.77205	0.4096	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.80441	-0.1381	10	0.72032	D	0.01	-17.073	16.8849	0.86073	0.0:1.0:0.0:0.0	.	367	P30550	GRPR_HUMAN	C	367	ENSP00000369643:S367C	ENSP00000369643:S367C	S	+	2	0	GRPR	16080634	1.000000	0.71417	0.807000	0.32361	0.898000	0.52572	7.235000	0.78143	2.193000	0.70182	0.600000	0.82982	TCC		PASS	0.532	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		78	88	78	88	---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418401	48418401	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:48418401G>A	ENST00000376771.4	+	6	1446	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.D115N	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	369	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.D369N(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTTCCACCCTGACGGCCGCGC	0.562																																						uc004dka.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1105-1107)GAC>AAC		TBC1 domain family, member 25							43.0	29.0	34.0					X																	48418401		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418401G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1105G>A	X.37:g.48418401G>A	ENSP00000365962:p.Asp369Asn					TBC1D25_uc011mly.1_Missense_Mutation_p.D311N|TBC1D25_uc004dkb.1_Missense_Mutation_p.D115N|TBC1D25_uc011mlz.1_Missense_Mutation_p.D115N|TBC1D25_uc011mma.1_Missense_Mutation_p.D115N|TBC1D25_uc004dkc.1_Missense_Mutation_p.D115N|TBC1D25_uc011mmb.1_Missense_Mutation_p.D373N|TBC1D25_uc011mmc.1_Missense_Mutation_p.D115N|TBC1D25_uc011mmd.1_Missense_Mutation_p.D115N	p.D369N	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1216	+			369			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1105G>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038197	0.54896	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.04603	3.59;3.59	5.55	5.55	0.83447	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.61218	1.895	0.58432	D	0.999994	D;D;P	0.58620	0.983;0.983;0.782	D;D;P	0.67231	0.95;0.933;0.855	T	0.00057	-1.2174	10	0.72032	D	0.01	-10.8103	15.8083	0.78534	0.0:0.0:1.0:0.0	.	373;311;369	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	N	369;115	ENSP00000365962:D369N;ENSP00000444091:D115N	ENSP00000365962:D369N	D	+	1	0	TBC1D25	48303345	1.000000	0.71417	0.912000	0.35992	0.138000	0.21146	9.091000	0.94151	2.332000	0.79248	0.429000	0.28392	GAC		PASS	0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		20	7	20	7	---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48826210	48826210	+	Missense_Mutation	SNP	C	C	T	rs147309267		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:48826210C>T	ENST00000218176.3	-	1	1766	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	157					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.G157R(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GGGCCGTCCCCGGCCTGCTCT	0.647																																						uc004dlx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(469-471)GGG>AGG		potassium voltage-gated channel, Shal-related		C	ARG/GLY	1,3820		0,1,1629,561	12.0	12.0	12.0		469	4.0	0.0	X	dbSNP_134	12	0,6724		0,0,2428,1868	no	missense	KCND1	NM_004979.4	125	0,1,4057,2429	TT,TC,CC,C		0.0,0.0262,0.0095	possibly-damaging	157/648	48826210	1,10544	2191	4296	6487	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48826210C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.469G>A	X.37:g.48826210C>T	ENSP00000218176:p.Gly157Arg					KCND1_uc004dlw.1_5'Flank	p.G157R	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	2042	-			157			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.469G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	1.623	-0.520909	0.04171	2.62E-4	0.0	ENSG00000102057	ENST00000218176	D	0.96334	-3.98	4.8	3.95	0.45737	.	0.277928	0.35407	N	0.003223	D	0.92443	0.7601	L	0.54323	1.7	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.79032	-0.1969	10	0.09590	T	0.72	.	8.2584	0.31771	0.0:0.805:0.0:0.195	.	157	Q9NSA2	KCND1_HUMAN	R	157	ENSP00000218176:G157R	ENSP00000218176:G157R	G	-	1	0	KCND1	48711154	0.000000	0.05858	0.016000	0.15963	0.257000	0.26127	0.246000	0.18160	1.029000	0.39812	0.513000	0.50165	GGG		PASS	0.647	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		6	8	6	8	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57313306	57313306	+	Silent	SNP	G	G	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:57313306G>C	ENST00000374900.4	+	1	168	c.48G>C	c.(46-48)gcG>gcC	p.A16A		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	16						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.A16A(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TCTTGCGGGCGCTAGGCTTTC	0.567										HNSCC(52;0.14)																												uc004dvc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(46-48)GCG>GCC		fatty acid amide hydrolase 2							40.0	32.0	35.0					X																	57313306		2203	4299	6502	SO:0001819	synonymous_variant	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57313306G>C	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.48G>C	X.37:g.57313306G>C		HNSCC(52;0.14)					p.A16A	NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN			1	197	+			16			Helical; (Potential).		Q86VT2|Q96N98	Silent	SNP	ENST00000374900.4	37	c.48G>C	CCDS14375.1																																																																																				PASS	0.567	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		7	18	7	18	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67940189	67940189	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:67940189T>C	ENST00000252336.6	+	7	2105	c.1733T>C	c.(1732-1734)gTg>gCg	p.V578A	STARD8_ENST00000374599.3_Missense_Mutation_p.V658A|STARD8_ENST00000374597.3_Missense_Mutation_p.V578A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	578	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.V578A(2)|p.V658A(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTCATCCACGTGCAGCGCACG	0.607																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(1732-1734)GTG>GCG		StAR-related lipid transfer (START) domain							43.0	30.0	34.0					X																	67940189		2202	4300	6502	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67940189T>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1733T>C	X.37:g.67940189T>C	ENSP00000252336:p.Val578Ala					STARD8_uc004dxb.2_Missense_Mutation_p.V658A|STARD8_uc004dxc.3_Missense_Mutation_p.V578A	p.V578A	NM_014725	NP_055540	Q92502	STAR8_HUMAN			7	2105	+			578			Rho-GAP.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1733T>C	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096850	0.56075	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08984	3.03;3.04;3.03	4.3	4.3	0.51218	Rho GTPase-activating protein domain (2);	0.087583	0.44688	D	0.000421	T	0.18800	0.0451	M	0.90759	3.145	0.50467	D	0.999878	B;B	0.24132	0.006;0.098	B;B	0.31337	0.07;0.128	T	0.02668	-1.1126	10	0.87932	D	0	.	10.4641	0.44596	0.0:0.0:0.0:1.0	.	658;578	Q92502-2;Q92502	.;STAR8_HUMAN	A	578;658;578	ENSP00000252336:V578A;ENSP00000363727:V658A;ENSP00000363725:V578A	ENSP00000252336:V578A	V	+	2	0	STARD8	67856914	1.000000	0.71417	0.909000	0.35828	0.650000	0.38633	7.488000	0.81441	1.589000	0.49982	0.486000	0.48141	GTG		PASS	0.607	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		12	0	12	0	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812708	73812708	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:73812708C>G	ENST00000332687.6	-	4	660	c.442G>C	c.(442-444)Ggg>Cgg	p.G148R	RLIM_ENST00000349225.2_Missense_Mutation_p.G148R	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	148					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G148R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTGGCTCCCATTATTACGG	0.418																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(442-444)GGG>CGG		ring finger protein, LIM domain interacting							164.0	150.0	155.0					X																	73812708		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812708C>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.442G>C	X.37:g.73812708C>G	ENSP00000328059:p.Gly148Arg					RLIM_uc004ebw.2_Missense_Mutation_p.G148R	p.G148R	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	732	-			148					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.442G>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323350	0.60634	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.07800	3.16;3.16	6.02	6.02	0.97574	.	0.051800	0.85682	D	0.000000	T	0.18759	0.0450	L	0.33668	1.02	0.58432	D	0.999995	D	0.71674	0.998	P	0.62649	0.905	T	0.01988	-1.1234	10	0.27082	T	0.32	-3.9051	19.4463	0.94849	0.0:1.0:0.0:0.0	.	148	Q9NVW2	RNF12_HUMAN	R	148	ENSP00000328059:G148R;ENSP00000253571:G148R	ENSP00000328059:G148R	G	-	1	0	RLIM	73729433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.243000	0.65395	2.546000	0.85860	0.594000	0.82650	GGG		PASS	0.418	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	296	5	296	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78426582	78426582	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:78426582C>G	ENST00000276077.1	+	1	114	c.78C>G	c.(76-78)taC>taG	p.Y26*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y26*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTGACATACACTGTCATTC	0.373										HNSCC(63;0.18)																												uc004edg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(76-78)TAC>TAG		putative purinergic receptor FKSG79							112.0	95.0	101.0					X																	78426582		2203	4300	6503	SO:0001587	stop_gained	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426582C>G	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.78C>G	X.37:g.78426582C>G	ENSP00000276077:p.Tyr26*	HNSCC(63;0.18)					p.Y26*	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	114	+			26			Extracellular (Potential).		Q2M3F7	Nonsense_Mutation	SNP	ENST00000276077.1	37	c.78C>G	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335733	0.81801	.	.	ENSG00000147138	ENST00000276077	.	.	.	5.0	1.28	0.21552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5865	0.33662	0.0:0.6644:0.0:0.3356	.	.	.	.	X	26	.	ENSP00000276077:Y26X	Y	+	3	2	GPR174	78313238	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	0.988000	0.29616	-0.167000	0.10871	0.538000	0.68166	TAC		PASS	0.373	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		4	59	4	59	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79282760	79282760	+	Silent	SNP	G	G	C	rs150811689	byFrequency	TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:79282760G>C	ENST00000373294.5	+	6	832	c.804G>C	c.(802-804)acG>acC	p.T268T	TBX22_ENST00000373296.3_Silent_p.T268T|TBX22_ENST00000442340.1_Silent_p.T148T|TBX22_ENST00000373291.1_Silent_p.T148T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	268					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T268T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATAGATTACGAAACTAAAAA	0.348																																						uc010nmg.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(802-804)ACG>ACC		T-box 22 isoform 1							36.0	35.0	36.0					X																	79282760		2202	4298	6500	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282760G>C	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.804G>C	X.37:g.79282760G>C						TBX22_uc004edi.1_Silent_p.T148T|TBX22_uc004edj.1_Silent_p.T268T	p.T268T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			7	938	+			268			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.804G>C	CCDS14445.1																																																																																				PASS	0.348	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		15	7	15	7	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96684741	96684741	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:96684741C>G	ENST00000324765.8	+	26	3585	c.3238C>G	c.(3238-3240)Cca>Gca	p.P1080A	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P1080A|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P1076A|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P1080A|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P1080A|DIAPH2-AS1_ENST00000439759.2_RNA			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1080	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.P1080A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TCCAAGGAATCCAGGTAAAAC	0.393																																						uc004efu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(3238-3240)CCA>GCA		diaphanous 2 isoform 156							61.0	55.0	57.0					X																	96684741		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96684741C>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3238C>G	X.37:g.96684741C>G	ENSP00000321348:p.Pro1080Ala					DIAPH2_uc004eft.3_Missense_Mutation_p.P1080A	p.P1080A	NM_006729	NP_006720	O60879	DIAP2_HUMAN			26	3634	+			1080			DAD.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.3238C>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.398419	0.01175	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.81078	-1.4;-1.4;-1.45;-1.45;-1.4	5.09	2.37	0.29283	Diaphanous autoregulatory (1);	0.644924	0.14513	N	0.314984	T	0.58807	0.2148	N	0.14661	0.345	0.27925	N	0.938113	B;B	0.13594	0.005;0.008	B;B	0.17979	0.009;0.02	T	0.43163	-0.9408	10	0.08381	T	0.77	.	4.7716	0.13158	0.1497:0.6014:0.0:0.2488	.	1080;1080	O60879;O60879-2	DIAP2_HUMAN;.	A	1080;1076;1080;1080;1080;1087	ENSP00000362152:P1080A;ENSP00000362145:P1076A;ENSP00000348082:P1080A;ENSP00000362140:P1080A;ENSP00000321348:P1080A	ENSP00000321348:P1080A	P	+	1	0	DIAPH2	96571397	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	1.256000	0.32921	0.133000	0.18654	0.600000	0.82982	CCA		PASS	0.393	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		38	30	38	30	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130217169	130217169	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:130217169A>G	ENST00000276211.5	+	3	629	c.284A>G	c.(283-285)gAt>gGt	p.D95G	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D83G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	95					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D95G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AACACCTTGGATAAGTGGTTT	0.413																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(283-285)GAT>GGT		hypothetical protein LOC158763 precursor							111.0	113.0	112.0					X																	130217169		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217169A>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.284A>G	X.37:g.130217169A>G	ENSP00000276211:p.Asp95Gly					ARHGAP36_uc004ewa.2_Missense_Mutation_p.D83G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D64G|ARHGAP36_uc004ewc.2_5'Flank	p.D95G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			3	629	+			95					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.284A>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	0.208	-1.038826	0.02013	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.10005	2.92;2.94;2.94	3.9	2.71	0.32032	.	0.651307	0.13503	N	0.383074	T	0.05135	0.0137	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.33954	-0.9848	10	0.33940	T	0.23	.	5.6847	0.17797	0.7563:0.0:0.0:0.2437	.	64;83;95	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	95;83;47;64	ENSP00000276211:D95G;ENSP00000359960:D83G;ENSP00000408515:D64G	ENSP00000276211:D95G	D	+	2	0	ARHGAP36	130044850	1.000000	0.71417	0.962000	0.40283	0.021000	0.10359	2.127000	0.42035	0.632000	0.30432	0.486000	0.48141	GAT		PASS	0.413	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		152	60	152	60	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795457	142795457	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:142795457C>T	ENST00000370498.1	-	2	974	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	74								p.R74Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTTCTCTCGGGACTGGTC	0.428																																						uc004fbz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)CGA>CAA		SPANX-N2 protein							294.0	265.0	275.0					X																	142795457		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795457C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.221G>A	X.37:g.142795457C>T	ENSP00000359529:p.Arg74Gln						p.R74Q	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	975	-	Acute lymphoblastic leukemia(192;6.56e-05)		74					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.221G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.608716	0.00121	.	.	ENSG00000203924	ENST00000370498	T	0.07444	3.19	0.225	-0.451	0.12214	.	.	.	.	.	T	0.02304	0.0071	N	0.04768	-0.165	0.09310	N	1	P	0.35174	0.488	B	0.21360	0.034	T	0.41324	-0.9515	8	0.13853	T	0.58	.	.	.	.	.	74	Q5MJ10	SPXN2_HUMAN	Q	74	ENSP00000359529:R74Q	ENSP00000359529:R74Q	R	-	2	0	SPANXN2	142623123	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.028000	0.01431	-1.039000	0.03275	-1.079000	0.02226	CGA		PASS	0.428	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		7	392	7	392	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152823611	152823611	+	Silent	SNP	C	C	T			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:152823611C>T	ENST00000349466.2	+	16	2801	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	ATP2B3_ENST00000359149.3_Silent_p.I825I|ATP2B3_ENST00000370186.1_Silent_p.I811I|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.I811I|ATP2B3_ENST00000393842.1_Silent_p.I811I|ATP2B3_ENST00000263519.4_Silent_p.I825I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	825					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.I825I(3)|p.I811I(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCGACATCATCCTGACCG	0.597																																						uc004fht.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(2473-2475)ATC>ATT		plasma membrane calcium ATPase 3 isoform 3b							219.0	137.0	164.0					X																	152823611		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152823611C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2475C>T	X.37:g.152823611C>T						ATP2B3_uc004fhs.1_Silent_p.I825I|ATP2B3_uc010nuf.1_5'Flank	p.I825I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			15	2601	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		825			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.2475C>T	CCDS35440.1																																																																																				PASS	0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		147	39	147	39	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153132842	153132842	+	Silent	SNP	C	C	A	rs200561489		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chrX:153132842C>A	ENST00000370060.1	-	17	2295	c.2106G>T	c.(2104-2106)ccG>ccT	p.P702P	L1CAM_ENST00000361699.4_Silent_p.P702P|L1CAM_ENST00000543994.1_Silent_p.P704P|L1CAM_ENST00000538883.1_Silent_p.P704P|L1CAM_ENST00000370055.1_Silent_p.P697P|L1CAM_ENST00000370057.3_Silent_p.P702P|L1CAM_ENST00000361981.3_Silent_p.P697P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	702	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.P702P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGAGACCGGGCTGGGCT	0.602																																						uc004fjb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(2104-2106)CCG>CCT		L1 cell adhesion molecule isoform 1 precursor							72.0	78.0	76.0					X																	153132842		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132842C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2106G>T	X.37:g.153132842C>A						L1CAM_uc004fjc.2_Silent_p.P702P|L1CAM_uc010nuo.2_Silent_p.P697P	p.P702P	NM_000425	NP_000416	P32004	L1CAM_HUMAN			16	2214	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		702			Fibronectin type-III 1.|Extracellular (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.2106G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	1.699	-0.502101	0.04261	.	.	ENSG00000198910	ENST00000455590	.	.	.	5.42	-4.11	0.03928	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.24835	-1.0149	4	.	.	.	.	1.1534	0.01790	0.2013:0.3564:0.1942:0.2481	.	.	.	.	L	123	.	.	R	-	2	0	L1CAM	152786036	0.000000	0.05858	0.073000	0.20177	0.460000	0.32559	-4.104000	0.00294	-0.925000	0.03775	-2.654000	0.00148	CGG		PASS	0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		162	47	162	47	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130912742	130912742	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr2:130912742delG	ENST00000409031.1	-	15	2645	c.1497delC	c.(1495-1497)cccfs	p.P499fs	SMPD4_ENST00000431183.2_Frame_Shift_Del_p.P397fs|SMPD4_ENST00000339679.7_Frame_Shift_Del_p.P357fs|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000452225.2_Frame_Shift_Del_p.P240fs|SMPD4_ENST00000453750.1_Frame_Shift_Del_p.P248fs|SMPD4_ENST00000426662.2_Frame_Shift_Del_p.P135fs|SMPD4_ENST00000351288.6_Frame_Shift_Del_p.P470fs|SMPD4_ENST00000443958.2_Frame_Shift_Del_p.P163fs	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	460					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCGCGTGCTTGGGGCTGACCA	0.602																																						uc002tqq.1																			0					0						c.(1495-1497)CCCfs		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						87.0	84.0	85.0					2																	130912742		2203	4300	6503	SO:0001589	frameshift_variant	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130912742delG	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1497delC	2.37:g.130912742delG	ENSP00000386531:p.Pro499fs					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Frame_Shift_Del_p.P238fs|SMPD4_uc010yzy.1_Frame_Shift_Del_p.P248fs|SMPD4_uc010yzz.1_Frame_Shift_Del_p.P163fs|SMPD4_uc002tqr.1_Frame_Shift_Del_p.P470fs|SMPD4_uc002tqs.1_Frame_Shift_Del_p.P367fs|SMPD4_uc002tqt.1_Frame_Shift_Del_p.P348fs|SMPD4_uc010zaa.1_Frame_Shift_Del_p.P357fs|SMPD4_uc010zab.1_Frame_Shift_Del_p.P397fs|SMPD4_uc010zac.1_Frame_Shift_Del_p.P240fs|SMPD4_uc010zad.1_Frame_Shift_Del_p.P135fs	p.P499fs	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			15	2017	-	Colorectal(110;0.1)		460					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Frame_Shift_Del	DEL	ENST00000409031.1	37	c.1497delC	CCDS42751.1																																																																																					0.602	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		92	49	92	49	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129125451	129125453	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr7:129125451_129125453delAGA	ENST00000249344.2	+	21	2326_2328	c.2286_2288delAGA	c.(2284-2289)gcagaa>gca	p.E764del	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	764					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.E763K(1)									ACTTCCAAGCAGAAGAATGTACC	0.488																																						uc011koy.1																			1	Substitution - Missense(1)		breast(1)		0						c.(2284-2289)GCAGAA>GCA		hypothetical protein LOC57464 isoform a				1,4263		0,1,2131						5.9	1.0			83	2,8252		1,0,4126	no	coding	FAM40B	NM_020704.2		1,1,6257	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001651	inframe_deletion	57464							g.chr7:129125451_129125453delAGA	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2286_2288delAGA	7.37:g.129125454_129125456delAGA	ENSP00000249344:p.Glu764del					FAM40B_uc011koz.1_In_Frame_Del_p.E256del	p.E764del	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			21	2326_2328	+			764					Q8WUZ4	In_Frame_Del	DEL	ENST00000249344.2	37	c.2286_2288delAGA	CCDS34752.1																																																																																					0.488	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		90	56	90	56	---	---	---	---
BHLHE41	79365	broad.mit.edu	37	12	26275572	26275583	+	In_Frame_Del	DEL	GCCGCCGCCGCT	GCCGCCGCCGCT	-	rs12831005		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:26275572_26275583delGCCGCCGCCGCT	ENST00000242728.4	-	5	1212_1223	c.865_876delAGCGGCGGCGGC	c.(865-876)agcggcggcggcdel	p.SGGG289del	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	289					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						cgccccccgggccgccgccgctgccgccgccg	0.797																																						uc001rhb.2																			0					0						c.(865-876)AGCGGCGGCGGCdel		basic helix-loop-helix domain containing, class				19,1763		9,1,881						1.9	1.0			3	44,4298		16,12,2143	no	coding	BHLHE41	NM_030762.2		25,13,3024	A1A1,A1R,RR		1.0134,1.0662,1.0287				63,6061				SO:0001651	inframe_deletion	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26275572_26275583delGCCGCCGCCGCT	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.865_876delAGCGGCGGCGGC	12.37:g.26275572_26275583delGCCGCCGCCGCT	ENSP00000242728:p.Ser289_Gly292del						p.SGGG289del	NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN			5	1156_1167	-			289_292					A2I2N8	In_Frame_Del	DEL	ENST00000242728.4	37	c.865_876delAGCGGCGGCGGC	CCDS8706.1																																																																																					0.797	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		4	2	4	2	---	---	---	---
ORAI1	84876	broad.mit.edu	37	12	122079130	122079131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr12:122079130_122079131insC	ENST00000330079.7	+	2	686_687	c.493_494insC	c.(493-495)tccfs	p.S165fs		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	163					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGTCAAGGAGTCCCCCCATGAG	0.619																																						uc010szz.1																			0					0						c.(487-489)TCCfs		calcium release-activated calcium channel																																				SO:0001589	frameshift_variant	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079130_122079131insC	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.499dupC	12.37:g.122079136_122079136dupC	ENSP00000328216:p.Ser165fs						p.S163fs	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	680_681	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		163			Cytoplasmic (Potential).		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Frame_Shift_Ins	INS	ENST00000330079.7	37	c.487_488insC	CCDS41851.1																																																																																					0.619	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		55	32	55	32	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726958	69726959	+	Frame_Shift_Ins	INS	-	-	T	rs530549070		TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr16:69726958_69726959insT	ENST00000354436.2	+	12	3494_3495	c.3176_3177insT	c.(3175-3180)aattttfs	p.NF1059fs	NFAT5_ENST00000567239.1_Frame_Shift_Ins_p.NF1076fs|NFAT5_ENST00000566899.1_Frame_Shift_Ins_p.NF983fs|NFAT5_ENST00000432919.1_Frame_Shift_Ins_p.NF1077fs|NFAT5_ENST00000393742.2_Frame_Shift_Ins_p.NF983fs|NFAT5_ENST00000349945.1_Frame_Shift_Ins_p.NF983fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1059					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAATCTGGAAATTTTTTGCAGC	0.411																																						uc002exm.1																			0					0						c.(3175-3177)AATfs		nuclear factor of activated T-cells 5 isoform c																																				SO:0001589	frameshift_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726958_69726959insT	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3182dupT	16.37:g.69726964_69726964dupT	ENSP00000346420:p.Asn1059fs					NFAT5_uc002exi.2_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exj.1_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exk.1_Frame_Shift_Ins_p.N983fs|NFAT5_uc002exl.1_Frame_Shift_Ins_p.N1077fs|NFAT5_uc002exn.1_Frame_Shift_Ins_p.N1076fs|NFAT5_uc002exo.1_RNA	p.N1059fs	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	4384_4385	+			1059					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Ins	INS	ENST00000354436.2	37	c.3176_3177insT	CCDS10881.1																																																																																					0.411	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		272	131	272	131	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50280595	50280596	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-66-2758-01A-02D-1522-08	TCGA-66-2758-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	71c4e854-a704-4787-a37a-fa6642ca5dac	bf99451b-c7c8-48d9-af74-8ca9486fc9da	g.chr22:50280595_50280596delAC	ENST00000216268.5	+	2	3762_3763	c.3285_3286delAC	c.(3283-3288)gaacacfs	p.H1096fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1096						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGTGCTTGAACACAGCTGTGA	0.579																																						uc003bix.2																			0				ovary(2)	2						c.(3283-3288)GAACACfs		zinc finger, BED-type containing 4																																				SO:0001589	frameshift_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280595_50280596delAC	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3285_3286delAC	22.37:g.50280597_50280598delAC	ENSP00000216268:p.His1096fs						p.E1095fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3755_3756	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	1095_1096					B2RZH1|Q1ECU0|Q9UGG8	Frame_Shift_Del	DEL	ENST00000216268.5	37	c.3285_3286delAC	CCDS33677.1																																																																																					0.579	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		76	44	76	44	---	---	---	---
