#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
SPEN	23013	broad.mit.edu	37	1	16255242	16255242	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:16255242C>T	ENST00000375759.3	+	11	2711	c.2507C>T	c.(2506-2508)tCa>tTa	p.S836L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	836					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.S836L(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)		TCTCAGTCTTCAGAAACGGAC	0.448																																						uc001axk.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2506-2508)TCA>TTA		spen homolog, transcriptional regulator							81.0	87.0	85.0					1																	16255242		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255242C>T		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.2507C>T	1.37:g.16255242C>T	ENSP00000364912:p.Ser836Leu					SPEN_uc010obp.1_Missense_Mutation_p.S795L	p.S836L	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	2711	+		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)	836					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2507C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312570	0.60414	.	.	ENSG00000065526	ENST00000375759	T	0.12672	2.66	5.12	5.12	0.69794	.	.	.	.	.	T	0.25306	0.0615	M	0.62723	1.935	0.45342	D	0.99833	D	0.57257	0.979	P	0.50082	0.63	T	0.00832	-1.1548	9	0.31617	T	0.26	-11.7829	18.7522	0.91820	0.0:1.0:0.0:0.0	.	836	Q96T58	MINT_HUMAN	L	836	ENSP00000364912:S836L	ENSP00000364912:S836L	S	+	2	0	SPEN	16127829	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.963000	0.56773	2.653000	0.90120	0.655000	0.94253	TCA		PASS	0.448	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		22	61	22	61	---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17345379	17345379	+	Silent	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:17345379A>C	ENST00000375499.3	-	8	990	c.840T>G	c.(838-840)gtT>gtG	p.V280V		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	280					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)	p.V280V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	GAAACAGTTAAACTGAAGCTT	0.333			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													uc001bae.2			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	Mis|N|F	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		paraganglioma|pheochromocytoma			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(838-840)GTT>GTG		succinate dehydrogenase complex, subunit B, iron	Succinic acid(DB00139)						180.0	191.0	187.0					1																	17345379		2203	4300	6503	SO:0001819	synonymous_variant	6390	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17345379A>C	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.840T>G	1.37:g.17345379A>C							p.V280V	NM_003000	NP_002991	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	8	991	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	280					B2R545|Q0QEY7|Q9NQ12	Silent	SNP	ENST00000375499.3	37	c.840T>G	CCDS176.1																																																																																				PASS	0.333	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		54	138	54	138	---	---	---	---
PADI4	23569	broad.mit.edu	37	1	17668535	17668535	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:17668535C>T	ENST00000375448.4	+	7	776	c.750C>T	c.(748-750)taC>taT	p.Y250Y	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	250					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Y250Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGGACTTCTACGTGGAGGCCC	0.607																																						uc001baj.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(748-750)TAC>TAT		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						95.0	87.0	89.0					1																	17668535		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668535C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.750C>T	1.37:g.17668535C>T						PADI4_uc009vpc.2_Silent_p.Y250Y	p.Y250Y	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	7	778	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	250					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.750C>T	CCDS180.1																																																																																				PASS	0.607	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		15	50	15	50	---	---	---	---
RPA2	6118	broad.mit.edu	37	1	28233712	28233712	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:28233712C>A	ENST00000373912.3	-	3	498	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	RPA2_ENST00000373909.3_Missense_Mutation_p.G75W|RPA2_ENST00000313433.7_Missense_Mutation_p.G155W	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	67					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)	p.G155W(1)|p.G67W(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACATTCCCAATTCTGAAC	0.353								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001bpe.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(199-201)GGG>TGG	Direct_reversal_of_damage|NER	replication protein A2, 32kDa							103.0	113.0	110.0					1																	28233712		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28233712C>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.199G>T	1.37:g.28233712C>A	ENSP00000363021:p.Gly67Trp					RPA2_uc001bpd.1_Missense_Mutation_p.G75W|RPA2_uc010ofp.1_5'UTR	p.G67W	NM_002946	NP_002937	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	3	481	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	67					Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.199G>T	CCDS314.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991447	0.74703	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.101690	0.64402	D	0.000002	T	0.64757	0.2627	L	0.57536	1.79	0.54753	D	0.999983	D;D	0.76494	0.99;0.999	D;D	0.76575	0.973;0.988	T	0.62407	-0.6861	10	0.46703	T	0.11	-20.3289	15.1773	0.72924	0.0:0.8584:0.1416:0.0	.	67;75	P15927;P15927-2	RFA2_HUMAN;.	W	67;75;155;71	ENSP00000363021:G67W;ENSP00000363017:G75W;ENSP00000363015:G155W;ENSP00000387649:G71W	ENSP00000363015:G155W	G	-	1	0	RPA2	28106299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.808000	0.47963	2.785000	0.95823	0.591000	0.81541	GGG		PASS	0.353	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		41	156	41	156	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32154546	32154546	+	Silent	SNP	C	C	A	rs201824520		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:32154546C>A	ENST00000373672.3	-	25	2199	c.1683G>T	c.(1681-1683)tcG>tcT	p.S561S	COL16A1_ENST00000373668.3_Silent_p.S561S|COL16A1_ENST00000271069.6_Silent_p.S561S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	561	Nonhelical region 8 (NC8).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.S561S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCCCTACAACCGAGCTGCAGG	0.612																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)	8						c.(1681-1683)TCG>TCT		alpha 1 type XVI collagen precursor							62.0	69.0	67.0					1																	32154546		1995	4174	6169	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32154546C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1683G>T	1.37:g.32154546C>A						COL16A1_uc001btj.1_Silent_p.S390S|COL16A1_uc001btl.3_Silent_p.S561S	p.S561S	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	25	2048	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	561			Nonhelical region 8 (NC8).		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.1683G>T	CCDS41297.1																																																																																				PASS	0.612	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		14	41	14	41	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32193848	32193848	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:32193848G>C	ENST00000373658.3	-	31	4791	c.4450C>G	c.(4450-4452)Ctc>Gtc	p.L1484V	BAI2_ENST00000257070.4_Missense_Mutation_p.L1450V|BAI2_ENST00000527361.1_Missense_Mutation_p.L1450V|BAI2_ENST00000398538.1_Missense_Mutation_p.L1472V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000373655.2_Missense_Mutation_p.L1483V|BAI2_ENST00000440175.2_Missense_Mutation_p.L1093V|BAI2_ENST00000398542.1_Missense_Mutation_p.L1384V|BAI2_ENST00000398547.1_Missense_Mutation_p.L1417V|BAI2_ENST00000398556.3_Missense_Mutation_p.L1399V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1484					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.L1484V(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)		TCGTGGTAGAGTTCTGAATGC	0.637																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(4450-4452)CTC>GTC		brain-specific angiogenesis inhibitor 2							95.0	92.0	93.0					1																	32193848		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32193848G>C	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.4450C>G	1.37:g.32193848G>C	ENSP00000362762:p.Leu1484Val					BAI2_uc001btm.2_Missense_Mutation_p.L478V|BAI2_uc001btp.1_Missense_Mutation_p.L478V|BAI2_uc010ogn.1_Missense_Mutation_p.L454V|BAI2_uc010ogo.1_Missense_Mutation_p.L1093V|BAI2_uc010ogp.1_Missense_Mutation_p.L1417V|BAI2_uc010ogq.1_Missense_Mutation_p.L1450V|BAI2_uc001bto.2_Missense_Mutation_p.L1483V	p.L1484V	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	31	4804	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1484			Cytoplasmic (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.4450C>G	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661895	0.67700	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29	5.19	5.19	0.71726	.	0.000000	0.36066	N	0.002816	T	0.15305	0.0369	L	0.54323	1.7	0.38776	D	0.954661	P;P;P;P;P;P;P	0.50710	0.938;0.911;0.855;0.855;0.845;0.855;0.855	P;P;B;B;P;B;B	0.51266	0.664;0.55;0.348;0.348;0.55;0.348;0.348	T	0.00585	-1.1658	10	0.56958	D	0.05	.	18.6842	0.91558	0.0:0.0:1.0:0.0	.	1450;1472;1093;1399;1483;1484;1472	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	V	1399;1417;1484;1483;1384;1450;1450;1093;1472	ENSP00000381564:L1399V;ENSP00000381555:L1417V;ENSP00000362762:L1484V;ENSP00000362759:L1483V;ENSP00000381550:L1384V;ENSP00000257070:L1450V;ENSP00000435397:L1450V;ENSP00000391071:L1093V;ENSP00000381548:L1472V	ENSP00000257070:L1450V	L	-	1	0	BAI2	31966435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	2.595000	0.87683	0.561000	0.74099	CTC		PASS	0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		7	27	7	27	---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44596261	44596261	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:44596261C>A	ENST00000372299.3	+	3	1061	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	335					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R335R(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					ACGACATATGCGGGTACACAC	0.493																																						uc001clp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1003-1005)CGG>AGG		zinc finger protein 393							151.0	137.0	141.0					1																	44596261		2203	4300	6503	SO:0001819	synonymous_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44596261C>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1003C>A	1.37:g.44596261C>A							p.R335R	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			3	1061	+	Acute lymphoblastic leukemia(166;0.155)		335			C2H2-type 2.		Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	37	c.1003C>A	CCDS508.1																																																																																				PASS	0.493	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		4	152	4	152	---	---	---	---
ANGPTL3	27329	broad.mit.edu	37	1	63068003	63068003	+	Missense_Mutation	SNP	T	T	C	rs398122989		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:63068003T>C	ENST00000371129.3	+	5	963	c.883T>C	c.(883-885)Ttc>Ctc	p.F295L	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	295	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.F295L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATCACAAAACTTCAATGAAAC	0.328																																						uc001das.1																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)TTC>CTC		angiopoietin-like 3 precursor							162.0	159.0	160.0					1																	63068003		2203	4300	6503	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63068003T>C	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.883T>C	1.37:g.63068003T>C	ENSP00000360170:p.Phe295Leu					DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	p.F295L	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN			5	934	+			295			Fibrinogen C-terminal.		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.883T>C	CCDS622.1	.	.	.	.	.	.	.	.	.	.	T	35	5.450476	0.96205	.	.	ENSG00000132855	ENST00000371129	T	0.55760	0.5	5.84	5.84	0.93424	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	T	0.78742	0.4331	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86066	0.1535	10	0.87932	D	0	.	16.2194	0.82247	0.0:0.0:0.0:1.0	.	295	Q9Y5C1	ANGL3_HUMAN	L	295	ENSP00000360170:F295L	ENSP00000360170:F295L	F	+	1	0	ANGPTL3	62840591	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.635000	0.83286	2.234000	0.73211	0.528000	0.53228	TTC		PASS	0.328	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		3	153	3	153	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70484480	70484480	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:70484480C>A	ENST00000035383.5	+	13	1315	c.1285C>A	c.(1285-1287)Cag>Aag	p.Q429K	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q434K|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	429						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q429K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CATGTTTCCCCAGCAGCCTCG	0.368																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1285-1287)CAG>AAG		leucine rich repeat containing 7							105.0	97.0	100.0					1																	70484480		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70484480C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1285C>A	1.37:g.70484480C>A	ENSP00000035383:p.Gln429Lys					LRRC7_uc009wbg.2_5'UTR	p.Q429K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			13	1315	+			429					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1285C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125113	0.94429	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.46063	0.88;0.88	6.08	6.08	0.98989	.	0.056894	0.64402	D	0.000001	T	0.62588	0.2440	M	0.78285	2.405	0.80722	D	1	D	0.65815	0.995	D	0.74348	0.983	T	0.62258	-0.6892	10	0.59425	D	0.04	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	429	Q96NW7	LRRC7_HUMAN	K	434;429;252	ENSP00000309245:Q434K;ENSP00000035383:Q429K	ENSP00000035383:Q429K	Q	+	1	0	LRRC7	70257068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.894000	0.99253	0.655000	0.94253	CAG		PASS	0.368	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		9	51	9	51	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150526192	150526192	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:150526192C>A	ENST00000369038.2	+	4	926	c.725C>A	c.(724-726)cCc>cAc	p.P242H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P242H|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P242H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P242H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	242					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.P242H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGGTGGCCCCCAGAACCAGG	0.632																																						uc001eux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(724-726)CCC>CAC		thrombospondin repeat containing 1 isoform 1							68.0	71.0	70.0					1																	150526192		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526192C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.725C>A	1.37:g.150526192C>A	ENSP00000358034:p.Pro242His					ADAMTSL4_uc001euw.2_Missense_Mutation_p.P242H|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P242H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P242H	p.P242H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	961	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		242					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.725C>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399295	0.42512	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62498	0.1;0.02;0.3;0.02	4.62	4.62	0.57501	.	.	.	.	.	T	0.42177	0.1191	N	0.14661	0.345	0.09310	N	1	P;P;B;D	0.53885	0.938;0.91;0.41;0.963	B;P;B;P	0.50378	0.436;0.545;0.241;0.639	T	0.43972	-0.9358	9	0.56958	D	0.05	.	14.9442	0.71016	0.0:1.0:0.0:0.0	.	242;242;242;242	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	H	242	ENSP00000358037:P242H;ENSP00000271643:P242H;ENSP00000358035:P242H;ENSP00000358034:P242H	ENSP00000271643:P242H	P	+	2	0	ADAMTSL4	148792816	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	1.540000	0.36115	2.116000	0.64780	0.555000	0.69702	CCC		PASS	0.632	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		4	74	4	74	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153941878	153941878	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:153941878G>T	ENST00000368607.3	+	4	756	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	CREB3L4_ENST00000271889.4_Missense_Mutation_p.A164S|CREB3L4_ENST00000368600.3_Missense_Mutation_p.A144S|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Missense_Mutation_p.A164S|RP11-422P24.10_ENST00000608147.1_RNA|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000405694.3_Missense_Mutation_p.A17S|CREB3L4_ENST00000368601.1_Missense_Mutation_p.A164S	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	164					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A164S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGATGCTCATGCCCACATCCT	0.532																																						uc001fdn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)GCC>TCC		cAMP responsive element binding protein 3-like							125.0	107.0	113.0					1																	153941878		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941878G>T	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.490G>T	1.37:g.153941878G>T	ENSP00000357596:p.Ala164Ser					SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.A17S|CREB3L4_uc001fdo.3_Missense_Mutation_p.A144S|CREB3L4_uc001fdm.1_Missense_Mutation_p.A164S|CREB3L4_uc001fdp.1_Missense_Mutation_p.A144S|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.A164S|CREB3L4_uc001fdq.2_Missense_Mutation_p.A144S	p.A164S	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	756	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		164			Cytoplasmic (Potential).		D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.490G>T	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	G	4.063	0.009510	0.07912	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.76709	-1.04;-0.03;-0.04;-0.04;0.98;-0.04;-0.03;0.87	4.78	-2.94	0.05581	.	1.899020	0.02735	N	0.115548	T	0.40522	0.1120	L	0.40543	1.245	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.16722	0.016;0.016	T	0.17684	-1.0361	10	0.08837	T	0.75	.	5.8719	0.18809	0.5349:0.1451:0.32:0.0	.	144;164	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	S	17;144;164;164;164;164;144;164	ENSP00000385104:A17S;ENSP00000391847:A144S;ENSP00000357596:A164S;ENSP00000271889:A164S;ENSP00000357590:A164S;ENSP00000357592:A164S;ENSP00000357589:A144S;ENSP00000402308:A164S	ENSP00000271889:A164S	A	+	1	0	CREB3L4	152208502	0.000000	0.05858	0.000000	0.03702	0.476000	0.33039	-0.578000	0.05841	-0.868000	0.04058	-0.258000	0.10820	GCC		PASS	0.532	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		27	63	27	63	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157771861	157771861	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:157771861G>T	ENST00000368176.3	-	5	797	c.730C>A	c.(730-732)Cac>Aac	p.H244N	FCRL1_ENST00000491942.1_Missense_Mutation_p.H244N|FCRL1_ENST00000358292.3_Missense_Mutation_p.H244N|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	244	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H244N(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATATCCTCGTGATAAAACCAG	0.582																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(730-732)CAC>AAC		Fc receptor-like 1 isoform 1 precursor							47.0	48.0	48.0					1																	157771861		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771861G>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.730C>A	1.37:g.157771861G>T	ENSP00000357158:p.His244Asn					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.H244N|FCRL1_uc001fri.2_Missense_Mutation_p.H244N|FCRL1_uc001frj.2_RNA	p.H244N	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	843	-	all_hematologic(112;0.0378)		244			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.730C>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519275	0.44866	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03358	3.96;3.96;3.96	4.96	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.461028	0.21813	N	0.068727	T	0.18923	0.0454	H	0.96142	3.775	0.31550	N	0.658863	D;D;D	0.76494	0.999;0.992;0.959	D;P;P	0.71184	0.972;0.856;0.652	T	0.19160	-1.0314	9	.	.	.	.	13.9028	0.63815	0.0:0.0:1.0:0.0	.	244;244;244	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	N	244	ENSP00000351039:H244N;ENSP00000357158:H244N;ENSP00000418130:H244N	.	H	-	1	0	FCRL1	156038485	0.908000	0.30866	0.956000	0.39512	0.116000	0.19942	4.446000	0.60014	2.716000	0.92895	0.655000	0.94253	CAC		PASS	0.582	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	55	8	55	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171756950	171756950	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:171756950G>A	ENST00000361735.3	+	4	1455	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N	METTL13_ENST00000362019.3_Missense_Mutation_p.D311N|METTL13_ENST00000367737.5_Missense_Mutation_p.D241N|METTL13_ENST00000458517.1_Missense_Mutation_p.D396N	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	397							methyltransferase activity (GO:0008168)	p.D397N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CTTGAGCGGTGACTATGTCAT	0.552																																						uc001ghz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1189-1191)GAC>AAC		CGI-01 protein isoform 1							114.0	90.0	98.0					1																	171756950		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171756950G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1189G>A	1.37:g.171756950G>A	ENSP00000354920:p.Asp397Asn					METTL13_uc001gia.2_Missense_Mutation_p.D311N|METTL13_uc001gib.2_Missense_Mutation_p.D241N|METTL13_uc010pml.1_Missense_Mutation_p.D396N	p.D397N	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			4	1536	+			397					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1189G>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755717	0.15846	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.44	2.56	0.30785	.	0.256644	0.43747	N	0.000534	T	0.54806	0.1881	M	0.72118	2.19	0.27012	N	0.96468	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.51004	-0.8760	10	0.37606	T	0.19	-31.8077	12.9759	0.58537	0.2005:0.0:0.7995:0.0	.	396;241;397	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	N	396;311;241;397	ENSP00000401955:D396N;ENSP00000355393:D311N;ENSP00000356711:D241N;ENSP00000354920:D397N	ENSP00000354920:D397N	D	+	1	0	METTL13	170023573	1.000000	0.71417	0.010000	0.14722	0.008000	0.06430	5.118000	0.64673	0.032000	0.15435	-0.797000	0.03246	GAC		PASS	0.552	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		12	41	12	41	---	---	---	---
NPL	80896	broad.mit.edu	37	1	182775341	182775341	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:182775341G>T	ENST00000367553.1	+	4	248	c.204G>T	c.(202-204)gaG>gaT	p.E68D	NPL_ENST00000258317.2_Missense_Mutation_p.E68D|NPL_ENST00000367555.1_Missense_Mutation_p.E68D|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367550.2_Missense_Mutation_p.E68D|NPL_ENST00000367552.2_Missense_Mutation_p.E68D|NPL_ENST00000367554.3_5'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	68					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.E68D(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGGTTGCAGAGGAGTGGGTGA	0.522																																						uc009wyb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(202-204)GAG>GAT		N-acetylneuraminate pyruvate lyase							119.0	117.0	118.0					1																	182775341		2203	4300	6503	SO:0001583	missense	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182775341G>T	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.204G>T	1.37:g.182775341G>T	ENSP00000356524:p.Glu68Asp					NPL_uc010pnx.1_Translation_Start_Site|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Translation_Start_Site|NPL_uc009wyc.2_Missense_Mutation_p.E68D|NPL_uc001gpp.3_Missense_Mutation_p.E68D|NPL_uc001gpq.1_Missense_Mutation_p.E68D	p.E68D	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN			5	344	+			68					B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	c.204G>T	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908013	0.72868	.	.	ENSG00000135838	ENST00000367555;ENST00000367553;ENST00000367552;ENST00000258317;ENST00000367550	D;D;D;D;D	0.96011	-3.88;-1.81;-3.88;-1.81;-3.88	5.14	4.02	0.46733	Aldolase-type TIM barrel (1);	0.161561	0.52532	D	0.000065	D	0.93890	0.8045	M	0.65498	2.005	0.80722	D	1	B;B;B	0.31752	0.074;0.148;0.338	B;B;B	0.35413	0.056;0.132;0.202	D	0.93031	0.6448	10	0.48119	T	0.1	-9.2851	11.5144	0.50513	0.1025:0.0:0.8975:0.0	.	68;68;68	Q9BXD5-4;Q9BXD5;Q9BXD5-3	.;NPL_HUMAN;.	D	68	ENSP00000356526:E68D;ENSP00000356524:E68D;ENSP00000356523:E68D;ENSP00000258317:E68D;ENSP00000356521:E68D	ENSP00000258317:E68D	E	+	3	2	NPL	181041964	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.030000	0.30153	2.391000	0.81399	0.563000	0.77884	GAG		PASS	0.522	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		8	30	8	30	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202572184	202572184	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:202572184C>T	ENST00000367267.1	-	4	600	c.408G>A	c.(406-408)gaG>gaA	p.E136E	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Silent_p.E136E	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	136	Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.E136E(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGTTCTCTGGCTCTTTCTCCT	0.572																																						uc001gye.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(406-408)GAG>GAA		synaptotagmin II	Botulinum Toxin Type B(DB00042)						149.0	134.0	139.0					1																	202572184		2203	4300	6503	SO:0001819	synonymous_variant	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202572184C>T	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.408G>A	1.37:g.202572184C>T						SYT2_uc010pqb.1_Silent_p.E136E|SYT2_uc009xaf.2_5'UTR	p.E136E	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		4	601	-			136			Phospholipid binding (By similarity).|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	c.408G>A	CCDS1427.1																																																																																				PASS	0.572	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		25	100	25	100	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202574736	202574736	+	Silent	SNP	T	T	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:202574736T>G	ENST00000367267.1	-	2	357	c.165A>C	c.(163-165)atA>atC	p.I55I	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Silent_p.I55I	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	55					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.I55I(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GAATCTTGTTTATCTCATTGA	0.537																																						uc001gye.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(163-165)ATA>ATC		synaptotagmin II	Botulinum Toxin Type B(DB00042)						73.0	65.0	68.0					1																	202574736		2203	4300	6503	SO:0001819	synonymous_variant	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202574736T>G	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.165A>C	1.37:g.202574736T>G						SYT2_uc010pqb.1_Silent_p.I55I|SYT2_uc009xaf.2_Intron	p.I55I	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		2	358	-			55			Vesicular (Potential).		Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	c.165A>C	CCDS1427.1																																																																																				PASS	0.537	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		19	64	19	64	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033505	205033505	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:205033505C>A	ENST00000331830.4	+	11	1580	c.1296C>A	c.(1294-1296)cgC>cgA	p.R432R	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	432	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.R432R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCGCGGCCCGCGGGGGAGAGA	0.612																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1294-1296)CGC>CGA		contactin 2 precursor							94.0	110.0	105.0					1																	205033505		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033505C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1296C>A	1.37:g.205033505C>A						CNTN2_uc001hbq.1_Silent_p.R323R|CNTN2_uc001hbs.2_Silent_p.R220R	p.R432R	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1565	+	all_cancers(21;0.144)|Breast(84;0.0437)		432			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1296C>A	CCDS1449.1																																																																																				PASS	0.612	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		80	123	80	123	---	---	---	---
PM20D1	148811	broad.mit.edu	37	1	205813990	205813990	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:205813990C>A	ENST00000367136.4	-	4	569	c.525G>T	c.(523-525)agG>agT	p.R175S	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	175					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.R175S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGATGTACTTCCTGATCAGCA	0.493																																						uc001hdj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)AGG>AGT		peptidase M20 domain containing 1 precursor							91.0	87.0	89.0					1																	205813990		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205813990C>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.525G>T	1.37:g.205813990C>A	ENSP00000356104:p.Arg175Ser					PM20D1_uc009xbr.2_RNA	p.R175S	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		4	570	-	Breast(84;0.201)		175					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.525G>T	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288141	0.59976	.	.	ENSG00000162877	ENST00000367136	T	0.48522	0.81	5.27	1.09	0.20402	.	0.178235	0.64402	N	0.000009	T	0.38852	0.1056	L	0.42686	1.345	0.40197	D	0.977476	B	0.28470	0.213	B	0.34346	0.18	T	0.19647	-1.0299	10	0.33141	T	0.24	.	10.0609	0.42275	0.0:0.1388:0.0:0.8612	.	175	Q6GTS8	P20D1_HUMAN	S	175	ENSP00000356104:R175S	ENSP00000356104:R175S	R	-	3	2	PM20D1	204080613	1.000000	0.71417	0.999000	0.59377	0.678000	0.39670	1.315000	0.33608	0.385000	0.24970	0.561000	0.74099	AGG		PASS	0.493	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		22	65	22	65	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208257880	208257880	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:208257880C>T	ENST00000367033.3	-	10	2900	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	715					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G715R(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTTACCTCCCCGACTGGAATC	0.572																																						uc001hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2143-2145)GGG>AGG		plexin A2 precursor							77.0	79.0	78.0					1																	208257880		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257880C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2143G>A	1.37:g.208257880C>T	ENSP00000356000:p.Gly715Arg						p.G715R	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	2901	-			715			Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2143G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797212	0.90538	.	.	ENSG00000076356	ENST00000367033	T	0.01051	5.4	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.06006	-1.0851	10	0.51188	T	0.08	.	19.8253	0.96616	0.0:1.0:0.0:0.0	.	715	O75051	PLXA2_HUMAN	R	715	ENSP00000356000:G715R	ENSP00000356000:G715R	G	-	1	0	PLXNA2	206324503	1.000000	0.71417	0.966000	0.40874	0.663000	0.39108	7.538000	0.82048	2.676000	0.91093	0.650000	0.86243	GGG		PASS	0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		16	101	16	101	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211093061	211093061	+	Silent	SNP	G	G	A	rs368522159		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:211093061G>A	ENST00000271751.4	-	7	1410	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	KCNH1_ENST00000367007.4_Silent_p.L434L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	461					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.L461L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCACACTGGTGAGGCTGGTCA	0.507																																						uc001hib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1381-1383)CTC>CTT		potassium voltage-gated channel, subfamily H,							157.0	151.0	153.0					1																	211093061		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093061G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1383C>T	1.37:g.211093061G>A						KCNH1_uc001hic.2_Silent_p.L434L	p.L461L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1553	-			461					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1383C>T	CCDS1496.1																																																																																				PASS	0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		34	112	34	112	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848418	215848418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:215848418G>A	ENST00000307340.3	-	63	13221	c.12835C>T	c.(12835-12837)Caa>Taa	p.Q4279*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4279*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4279	Fibronectin type-III 28. {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.Q4279*(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)		AGCAGTTTTTGGGgattcata	0.443										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12835-12837)CAA>TAA		usherin isoform B							84.0	81.0	82.0					1																	215848418		2203	4300	6503	SO:0001587	stop_gained	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.chr1:215848418G>A	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.12835C>T	1.37:g.215848418G>A	ENSP00000305941:p.Gln4279*	HNSCC(13;0.011)					p.Q4279*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13222	-			4279			Fibronectin type-III 28.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.12835C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	54	21.832525	0.99943	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.26	4.34	0.51931	.	0.824462	0.10056	N	0.721627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	10.2941	0.43613	0.0736:0.1356:0.7908:0.0	.	.	.	.	X	4279	.	ENSP00000305941:Q4279X	Q	-	1	0	USH2A	213915041	0.241000	0.23857	0.419000	0.26584	0.009000	0.06853	1.153000	0.31676	1.222000	0.43521	-0.140000	0.14226	CAA		PASS	0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	84	15	84	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226567635	226567635	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:226567635C>T	ENST00000366794.5	-	10	1674	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	511	Automodification domain.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V511I(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCTCCTTGACCTGGCCCTTG	0.607								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1531-1533)GTC>ATC	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							92.0	101.0	98.0					1																	226567635		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567635C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1531G>A	1.37:g.226567635C>T	ENSP00000355759:p.Val511Ile						p.V511I	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1702	-	Breast(184;0.133)		511			Automodification domain.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1531G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134680	0.09032	.	.	ENSG00000143799	ENST00000366794	T	0.08984	3.03	5.22	0.182	0.15077	.	0.473880	0.24635	N	0.036847	T	0.06142	0.0159	L	0.38838	1.175	0.22880	N	0.998617	B	0.02656	0.0	B	0.04013	0.001	T	0.40534	-0.9558	10	0.20519	T	0.43	.	9.5812	0.39488	0.0:0.5744:0.0:0.4256	.	511	P09874	PARP1_HUMAN	I	511	ENSP00000355759:V511I	ENSP00000355759:V511I	V	-	1	0	PARP1	224634258	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	-0.586000	0.05787	-0.014000	0.14175	-0.145000	0.13849	GTC		PASS	0.607	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		23	162	23	162	---	---	---	---
KCNK1	3775	broad.mit.edu	37	1	233807193	233807193	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:233807193G>A	ENST00000366621.3	+	3	1096	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	KCNK1_ENST00000366620.1_Missense_Mutation_p.G194S|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	310					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.G310S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CCAGGCAGCTGGCATGAAAGA	0.502																																						uc010pxo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(928-930)GGC>AGC		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						77.0	71.0	73.0					1																	233807193		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233807193G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.928G>A	1.37:g.233807193G>A	ENSP00000355580:p.Gly310Ser					KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	p.G310S	NM_002245	NP_002236	O00180	KCNK1_HUMAN			3	1096	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	310			Cytoplasmic (Potential).		Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.928G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	5.067	0.197981	0.09652	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.10099	3.3;2.98;2.91	6.03	2.17	0.27698	.	0.883929	0.10179	N	0.706093	T	0.02970	0.0088	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45264	-0.9273	10	0.07030	T	0.85	.	6.0741	0.19905	0.2695:0.0:0.5855:0.145	.	310	O00180	KCNK1_HUMAN	S	310;194;228	ENSP00000355580:G310S;ENSP00000355579:G194S;ENSP00000409626:G228S	ENSP00000355579:G194S	G	+	1	0	KCNK1	231873816	0.004000	0.15560	0.004000	0.12327	0.997000	0.91878	0.404000	0.20999	0.164000	0.19529	0.655000	0.94253	GGC		PASS	0.502	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		9	32	9	32	---	---	---	---
FH	2271	broad.mit.edu	37	1	241669322	241669322	+	Silent	SNP	T	T	C	rs199635833		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:241669322T>C	ENST00000366560.3	-	6	923	c.885A>G	c.(883-885)gcA>gcG	p.A295A		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	295					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.A295A(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCACTTTTGCAGCAACCT	0.413			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(883-885)GCA>GCG		fumarate hydratase precursor							126.0	119.0	122.0					1																	241669322		2203	4300	6503	SO:0001819	synonymous_variant	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241669322T>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.885A>G	1.37:g.241669322T>C							p.A295A	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	6	917	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	295					B1ANK7	Silent	SNP	ENST00000366560.3	37	c.885A>G	CCDS1617.1																																																																																				PASS	0.413	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		35	56	35	56	---	---	---	---
OR2T29	343563	broad.mit.edu	37	1	248722769	248722769	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr1:248722769G>A	ENST00000328570.3	-	1	28	c.24C>T	c.(22-24)gcC>gcT	p.A8A	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A8A(1)		NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGTGGTTGGCCATCCTGG	0.473																																						uc001ieo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)GCC>GCT		olfactory receptor, family 2, subfamily T,							91.0	74.0	80.0					1																	248722769		2203	4298	6501	SO:0001819	synonymous_variant	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722769G>A		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.24C>T	1.37:g.248722769G>A							p.A2A	NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	6	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		8			Extracellular (Potential).			Silent	SNP	ENST00000328570.3	37	c.6C>T	CCDS55695.1																																																																																				PASS	0.473	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		8	37	8	37	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1906962	1906962	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:1906962T>G	ENST00000399161.2	-	14	2669	c.1922A>C	c.(1921-1923)tAt>tCt	p.Y641S	MYT1L_ENST00000428368.2_Missense_Mutation_p.Y639S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	641					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.Y641S(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)		GGTCTTGGAATATTTCTCGAG	0.488																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1921-1923)TAT>TCT		myelin transcription factor 1-like							137.0	126.0	130.0					2																	1906962		1934	4138	6072	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906962T>G	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.1922A>C	2.37:g.1906962T>G	ENSP00000382114:p.Tyr641Ser					MYT1L_uc002qxd.2_Missense_Mutation_p.Y639S|MYT1L_uc010ewl.1_RNA	p.Y641S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2749	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	641					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1922A>C		.	.	.	.	.	.	.	.	.	.	T	26.5	4.739124	0.89573	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53206	0.63;0.63	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.78049	2.395	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.61722	0.893;0.776	T	0.68172	-0.5479	10	0.41790	T	0.15	-26.5706	15.6256	0.76855	0.0:0.0:0.0:1.0	.	641;639	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	S	641;587;639	ENSP00000382114:Y641S;ENSP00000396103:Y639S	ENSP00000295067:Y587S	Y	-	2	0	MYT1L	1885969	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.975000	0.88055	2.101000	0.63845	0.459000	0.35465	TAT		PASS	0.488	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		14	93	14	93	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926988	1926988	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:1926988C>G	ENST00000399161.2	-	10	1300	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.E185Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	185					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.E185Q(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)		TCATCCTTTTCTGTGTCTTGC	0.368																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(553-555)GAA>CAA		myelin transcription factor 1-like							68.0	62.0	64.0					2																	1926988		1900	4125	6025	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926988C>G	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.553G>C	2.37:g.1926988C>G	ENSP00000382114:p.Glu185Gln					MYT1L_uc002qxd.2_Missense_Mutation_p.E185Q|MYT1L_uc010ewl.1_RNA	p.E185Q	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1380	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	185					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.553G>C		.	.	.	.	.	.	.	.	.	.	C	16.30	3.084469	0.55861	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47177	0.85;0.85	5.93	5.05	0.67936	.	0.053822	0.64402	D	0.000001	T	0.58206	0.2106	L	0.32530	0.975	0.58432	D	0.999995	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	T	0.60994	-0.7152	10	0.56958	D	0.05	-27.6211	15.0299	0.71698	0.0:0.9319:0.0:0.0681	.	185;185	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	185;133;185	ENSP00000382114:E185Q;ENSP00000396103:E185Q	ENSP00000295067:E133Q	E	-	1	0	MYT1L	1905995	1.000000	0.71417	0.105000	0.21289	0.558000	0.35554	7.413000	0.80104	1.497000	0.48584	0.655000	0.94253	GAA		PASS	0.368	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		3	18	3	18	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15760450	15760450	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:15760450A>T	ENST00000381341.2	+	18	1714	c.1325A>T	c.(1324-1326)cAc>cTc	p.H442L	DDX1_ENST00000233084.3_Missense_Mutation_p.H442L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	442	Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.H442L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATACTGTACACCATGTTGTT	0.378																																						uc002rce.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1324-1326)CAC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							98.0	93.0	95.0					2																	15760450		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15760450A>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1325A>T	2.37:g.15760450A>T	ENSP00000370745:p.His442Leu					DDX1_uc010yjq.1_Missense_Mutation_p.H350L	p.H442L	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	17	1613	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	442			Necessary for interaction with RELA.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1325A>T	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949932	0.73787	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04360	3.64;3.64	6.07	4.9	0.64082	DEAD-like helicase (1);	0.040662	0.85682	D	0.000000	T	0.27419	0.0673	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10359	-1.0633	10	0.48119	T	0.1	-17.7126	13.4818	0.61340	0.8693:0.1306:0.0:0.0	.	442	Q92499	DDX1_HUMAN	L	442;442;426	ENSP00000370745:H442L;ENSP00000233084:H442L	ENSP00000233084:H442L	H	+	2	0	DDX1	15677901	1.000000	0.71417	0.995000	0.50966	0.560000	0.35617	9.339000	0.96797	1.095000	0.41419	-0.446000	0.05623	CAC		PASS	0.378	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		20	86	20	86	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25966231	25966231	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:25966231G>A	ENST00000435504.4	-	13	3268	c.2975C>T	c.(2974-2976)gCg>gTg	p.A992V	ASXL2_ENST00000336112.4_Missense_Mutation_p.A964V|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	992					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.A992V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTATGAGCGCTCCCATCCC	0.483																																						uc002rgs.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2974-2976)GCG>GTG		additional sex combs like 2							70.0	72.0	71.0					2																	25966231		1932	4140	6072	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966231G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2975C>T	2.37:g.25966231G>A	ENSP00000391447:p.Ala992Val					ASXL2_uc002rgt.1_Intron	p.A992V	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	3196	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		992					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2975C>T		.	.	.	.	.	.	.	.	.	.	G	0.275	-0.989958	0.02162	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.20881	2.04;2.04	5.72	1.87	0.25490	.	0.761218	0.12599	N	0.454918	T	0.14056	0.0340	N	0.17474	0.49	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	T	0.23797	-1.0178	10	0.87932	D	0	0.7671	11.3569	0.49621	0.3518:0.0:0.6482:0.0	.	992	Q76L83	ASXL2_HUMAN	V	992;964	ENSP00000391447:A992V;ENSP00000337250:A964V	ENSP00000337250:A964V	A	-	2	0	ASXL2	25819735	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.641000	0.05434	-0.124000	0.11724	-1.119000	0.02030	GCG		PASS	0.483	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		52	41	52	41	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27799449	27799449	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:27799449A>C	ENST00000408964.2	+	1	61	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	4						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T4P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATGGAGCTGACACCAGGGGC	0.433																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(10-12)ACA>CCA		hypothetical protein LOC84226							47.0	45.0	45.0					2																	27799449		1929	4135	6064	SO:0001583	missense	84226							g.chr2:27799449A>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.10A>C	2.37:g.27799449A>C	ENSP00000386190:p.Thr4Pro						p.T4P	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	61	+	Acute lymphoblastic leukemia(172;0.155)		4					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.10A>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615225	0.46631	.	.	ENSG00000221843	ENST00000408964	T	0.07800	3.16	3.84	2.64	0.31445	.	.	.	.	.	T	0.10165	0.0249	L	0.29908	0.895	0.09310	N	1	D	0.53745	0.962	P	0.51355	0.667	T	0.19128	-1.0315	9	0.72032	D	0.01	.	6.3753	0.21503	0.7811:0.0:0.0:0.2189	.	4	Q68DN1	CB016_HUMAN	P	4	ENSP00000386190:T4P	ENSP00000386190:T4P	T	+	1	0	C2orf16	27652953	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	1.825000	0.39081	0.777000	0.33496	0.460000	0.39030	ACA		PASS	0.433	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		6	38	6	38	---	---	---	---
TRMT61B	55006	broad.mit.edu	37	2	29093054	29093054	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:29093054C>T	ENST00000306108.5	-	1	113	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	30					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)	p.E30E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCGAAGGGCTCCTGCCCCA	0.617																																						uc002rmm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)GAG>GAA		tRNA methyltransferase 61 homolog B							41.0	45.0	44.0					2																	29093054		2203	4300	6503	SO:0001819	synonymous_variant	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29093054C>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.90G>A	2.37:g.29093054C>T						TRMT61B_uc002rmn.2_Silent_p.E30E|TRMT61B_uc010ezk.2_RNA	p.E30E	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			1	122	-			30					Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	c.90G>A	CCDS1768.1																																																																																				PASS	0.617	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		4	36	4	36	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32836642	32836642	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:32836642C>G	ENST00000421745.2	+	73	14521	c.14387C>G	c.(14386-14388)gCt>gGt	p.A4796G		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4796					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.A4796G(1)|p.A4768G(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)					CATGCAGCAGCTCTCAAGGTG	0.483																																					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.(14386-14388)GCT>GGT		baculoviral IAP repeat-containing 6							112.0	93.0	99.0					2																	32836642		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32836642C>G	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.14387C>G	2.37:g.32836642C>G	ENSP00000393596:p.Ala4796Gly						p.A4796G	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			73	14521	+	Acute lymphoblastic leukemia(172;0.155)		4796					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.14387C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446846	0.63178	.	.	ENSG00000115760	ENST00000421745	T	0.75367	-0.93	4.76	4.76	0.60689	Ubiquitin-conjugating enzyme/RWD-like (1);	0.117962	0.56097	D	0.000025	T	0.81202	0.4773	L	0.51422	1.61	0.80722	D	1	P	0.46656	0.882	P	0.57425	0.82	T	0.82516	-0.0418	10	0.54805	T	0.06	.	17.794	0.88564	0.0:1.0:0.0:0.0	.	4796	Q9NR09	BIRC6_HUMAN	G	4796	ENSP00000393596:A4796G	ENSP00000393596:A4796G	A	+	2	0	BIRC6	32690146	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.747000	0.85070	2.172000	0.68678	0.555000	0.69702	GCT		PASS	0.483	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		39	27	39	27	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50573836	50573836	+	Intron	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:50573836G>T	ENST00000406316.2	-	18	4841				NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000342183.5_Silent_p.G84G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G84G(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCGTGTCCGCCTCGCAAGG	0.572																																						uc010fbp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(250-252)GGC>GGA		neurexin 1 isoform beta precursor							86.0	68.0	74.0					2																	50573836		2203	4300	6503	SO:0001627	intron_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50573836G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109728C>A	2.37:g.50573836G>T						NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	p.G84G	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		1	1059	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	84			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.252C>A	CCDS54360.1																																																																																				PASS	0.572	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	65	17	65	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51253554	51253554	+	Intron	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:51253554G>A	ENST00000406316.2	-	2	2249				NRXN1_ENST00000404971.1_Nonsense_Mutation_p.Q276*|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000405581.1_Intron|NRXN1_ENST00000401669.2_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q276*(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTTTCCTTGGTCATTGTCA	0.378																																						uc010fbq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(826-828)CAA>TAA		neurexin 1 isoform alpha2 precursor							102.0	76.0	84.0					2																	51253554		1568	3582	5150	SO:0001627	intron_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51253554G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.772+1085C>T	2.37:g.51253554G>A						NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxd.1_Intron	p.Q276*	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		3	2303	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.826C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	47	13.622183	0.99753	.	.	ENSG00000179915	ENST00000404971;ENST00000536085	.	.	.	4.88	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	3.3786	0.07246	0.2842:0.0:0.5349:0.1809	.	.	.	.	X	276	.	ENSP00000385142:Q276X	Q	-	1	0	NRXN1	51107058	0.045000	0.20229	0.024000	0.17045	0.040000	0.13550	0.742000	0.26216	0.788000	0.33755	-0.229000	0.12294	CAA		PASS	0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	23	3	23	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58366957	58366957	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:58366957A>C	ENST00000435505.2	+	14	1758	c.1013A>C	c.(1012-1014)aAc>aCc	p.N338T	VRK2_ENST00000340157.4_Missense_Mutation_p.N338T|VRK2_ENST00000440705.2_Missense_Mutation_p.N315T|VRK2_ENST00000417641.2_Missense_Mutation_p.N338T|VRK2_ENST00000412104.2_Missense_Mutation_p.N338T			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	338					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N338T(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CATACTCCAAACAGTCAAAAA	0.353																																						uc002rzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)AAC>ACC		vaccinia related kinase 2 isoform 2							79.0	76.0	77.0					2																	58366957		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58366957A>C	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1013A>C	2.37:g.58366957A>C	ENSP00000408002:p.Asn338Thr					VRK2_uc010fcb.2_Missense_Mutation_p.N338T|VRK2_uc002rzs.2_Missense_Mutation_p.N338T|VRK2_uc002rzr.2_Missense_Mutation_p.N338T|VRK2_uc010fcc.2_Missense_Mutation_p.N220T|VRK2_uc002rzv.2_Missense_Mutation_p.N338T|VRK2_uc010fcd.2_Missense_Mutation_p.N315T|VRK2_uc002rzp.2_Missense_Mutation_p.N338T|VRK2_uc010ypg.1_Missense_Mutation_p.N338T|VRK2_uc002rzq.2_Missense_Mutation_p.N338T|VRK2_uc002rzu.2_Missense_Mutation_p.N338T|VRK2_uc002rzt.2_Missense_Mutation_p.N220T	p.N338T	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			14	1758	+			338					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.1013A>C	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	5.642	0.303112	0.10678	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.05319	3.46;3.64;3.64;3.46;3.46	5.2	-1.23	0.09465	.	1.404450	0.03967	N	0.291064	T	0.05777	0.0151	L	0.50333	1.59	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.41431	-0.9509	10	0.12430	T	0.62	2.5173	1.4543	0.02382	0.4909:0.1737:0.2165:0.1189	.	338;338;338	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	T	338;338;338;338;338;315	ENSP00000408002:N338T;ENSP00000402375:N338T;ENSP00000404156:N338T;ENSP00000342381:N338T;ENSP00000398323:N315T	ENSP00000342381:N338T	N	+	2	0	VRK2	58220461	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	0.365000	0.20348	-0.273000	0.09246	0.533000	0.62120	AAC		PASS	0.353	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		17	87	17	87	---	---	---	---
PELI1	57162	broad.mit.edu	37	2	64331869	64331869	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:64331869G>C	ENST00000358912.4	-	3	609	c.167C>G	c.(166-168)aCt>aGt	p.T56S	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	56					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T56S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						AATATGCACAGTGCTGGGCTT	0.378																																						uc002scs.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(166-168)ACT>AGT		pellino protein							128.0	125.0	126.0					2																	64331869		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64331869G>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.167C>G	2.37:g.64331869G>C	ENSP00000351789:p.Thr56Ser					PELI1_uc002sct.3_Missense_Mutation_p.T56S|PELI1_uc002scu.1_RNA	p.T56S	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			2	4206	-			56					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.167C>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099511	0.56183	.	.	ENSG00000197329	ENST00000358912	T	0.44881	0.91	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.40543	1.245	0.80722	D	1	B	0.20368	0.044	B	0.25987	0.065	T	0.17198	-1.0377	10	0.15499	T	0.54	-17.432	20.1012	0.97876	0.0:0.0:1.0:0.0	.	56	Q96FA3	PELI1_HUMAN	S	56	ENSP00000351789:T56S	ENSP00000351789:T56S	T	-	2	0	PELI1	64185373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.754000	0.94517	0.650000	0.86243	ACT		PASS	0.378	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		18	111	18	111	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74474421	74474421	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:74474421C>T	ENST00000377634.4	-	19	2200	c.1801G>A	c.(1801-1803)Gac>Aac	p.D601N	SLC4A5_ENST00000357822.5_Missense_Mutation_p.D601N|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D537N|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D601N|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D601N|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D601N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D537N|SLC4A5_ENST00000394019.2_Missense_Mutation_p.D601N					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.D601N(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCCATGTAGTCCAGGCCATTG	0.557																																						uc002sko.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1801-1803)GAC>AAC		sodium bicarbonate transporter 4 isoform a							69.0	63.0	65.0					2																	74474421		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74474421C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1801G>A	2.37:g.74474421C>T	ENSP00000366861:p.Asp601Asn					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D601N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D601N|SLC4A5_uc002skp.1_Missense_Mutation_p.D537N|SLC4A5_uc002sks.1_Missense_Mutation_p.D601N	p.D601N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			14	1803	-			601			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.1801G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037577	0.93630	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.17	5.17	0.71159	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89525	0.6740	M	0.79011	2.435	0.80722	D	1	P;D;D;D;P	0.89917	0.849;1.0;0.999;1.0;0.76	B;D;D;D;P	0.97110	0.395;1.0;0.994;1.0;0.613	D	0.90253	0.4295	10	0.66056	D	0.02	.	16.2183	0.82241	0.0:1.0:0.0:0.0	.	601;601;537;601;601	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	N	601;601;601;537;601;537;601;601;601;601	ENSP00000377587:D601N;ENSP00000251768:D601N;ENSP00000352461:D537N;ENSP00000395804:D601N;ENSP00000351513:D537N;ENSP00000350475:D601N;ENSP00000366859:D601N;ENSP00000366861:D601N;ENSP00000405678:D601N	ENSP00000251768:D601N	D	-	1	0	SLC4A5	74327929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.762000	0.68809	2.687000	0.91594	0.655000	0.94253	GAC		PASS	0.557	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	61	8	61	---	---	---	---
IGKV2-30	28919	broad.mit.edu	37	2	89545004	89545004	+	RNA	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:89545004G>A	ENST00000468494.1	-	0	75									immunoglobulin kappa variable 2-30																		CCCTTACCTGGGACCCAGAGC	0.567																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							27.0	28.0	27.0					2																	89545004		1778	4035	5813			0							g.chr2:89545004G>A	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89545004G>A						uc002stl.2_Intron								13		-									RNA	SNP	ENST00000468494.1	37	c.1607C>T																																																																																					PASS	0.567	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		8	29	8	29	---	---	---	---
ASTL	431705	broad.mit.edu	37	2	96799269	96799269	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:96799269C>T	ENST00000342380.2	-	5	349	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.R117H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GATGACCTGGCGGCTGGGCTC	0.567																																						uc010yui.1																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CGC>CAC		astacin-like metalloendopeptidase precursor							70.0	64.0	66.0					2																	96799269		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799269C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.350G>A	2.37:g.96799269C>T	ENSP00000343674:p.Arg117His						p.R117H	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			5	350	-			117						Missense_Mutation	SNP	ENST00000342380.2	37	c.350G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731297	0.48939	.	.	ENSG00000188886	ENST00000342380	T	0.65916	-0.18	5.29	2.38	0.29361	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45361	D	0.000362	T	0.73218	0.3559	M	0.79123	2.44	0.35097	D	0.764861	D	0.89917	1.0	D	0.70935	0.971	T	0.76916	-0.2782	10	0.72032	D	0.01	-9.5987	5.3559	0.16061	0.1592:0.6641:0.0:0.1767	.	117	Q6HA08	ASTL_HUMAN	H	117	ENSP00000343674:R117H	ENSP00000343674:R117H	R	-	2	0	ASTL	96162996	0.426000	0.25506	0.653000	0.29593	0.206000	0.24218	0.381000	0.20619	0.579000	0.29504	0.644000	0.83932	CGC		PASS	0.567	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			17	67	17	67	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040576	103040576	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:103040576T>A	ENST00000264260.2	+	4	965	c.376T>A	c.(376-378)Tgt>Agt	p.C126S	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	126					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C126S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTCATATATTTGTAGACCCAA	0.353																																						uc002tbx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(376-378)TGT>AGT		interleukin 18 receptor accessory protein							61.0	62.0	61.0					2																	103040576		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040576T>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.376T>A	2.37:g.103040576T>A	ENSP00000264260:p.Cys126Ser					IL18RAP_uc010fiz.2_Intron	p.C126S	NM_003853	NP_003844	O95256	I18RA_HUMAN			4	860	+			126			Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.376T>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012481	0.54468	.	.	ENSG00000115607	ENST00000264260	T	0.21191	2.02	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.38693	-0.9649	10	0.62326	D	0.03	.	12.2016	0.54328	0.0:0.0:0.0:1.0	.	126	O95256	I18RA_HUMAN	S	126	ENSP00000264260:C126S	ENSP00000264260:C126S	C	+	1	0	IL18RAP	102407008	0.998000	0.40836	0.995000	0.50966	0.285000	0.27093	3.538000	0.53597	2.201000	0.70794	0.533000	0.62120	TGT		PASS	0.353	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		12	109	12	109	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257312	114257312	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:114257312C>T	ENST00000306507.5	+	1	652	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	160					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S160L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CACAACCTCTCGCTGAACGAC	0.647																																						uc002tjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)TCG>TTG		forkhead box D4-like 1							52.0	66.0	61.0					2																	114257312		1973	3886	5859	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257312C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.479C>T	2.37:g.114257312C>T	ENSP00000302756:p.Ser160Leu						p.S160L	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	652	+			160			Fork-head.		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.479C>T	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.230592	0.79688	.	.	ENSG00000184492	ENST00000306507	D	0.97598	-4.45	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.32106	U	0.006565	D	0.98874	0.9619	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98470	1.0600	10	0.87932	D	0	.	10.8975	0.47031	0.0:1.0:0.0:0.0	.	160	Q9NU39	FX4L1_HUMAN	L	160	ENSP00000302756:S160L	ENSP00000302756:S160L	S	+	2	0	FOXD4L1	113973782	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.261000	0.78400	1.452000	0.47756	0.184000	0.17185	TCG		PASS	0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		8	229	8	229	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138030207	138030207	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:138030207G>A	ENST00000409968.1	+	11	2549	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D760N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D791N|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	791	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.D791N(1)|p.D760N(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAGTGTGAAGATGTTTCCTT	0.388																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2278-2280)GAT>AAT		thrombospondin, type I, domain containing 7B							154.0	154.0	154.0					2																	138030207		1939	4131	6070	SO:0001583	missense	80731							g.chr2:138030207G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2371G>A	2.37:g.138030207G>A	ENSP00000387145:p.Asp791Asn					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.D650N	p.D760N	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	10	2278	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2278G>A		.	.	.	.	.	.	.	.	.	.	G	14.98	2.698303	0.48307	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23552	2.44;2.31;1.9	5.86	5.86	0.93980	.	0.204155	0.50627	D	0.000117	T	0.34193	0.0889	N	0.25144	0.715	0.80722	D	1	P;P	0.51933	0.949;0.895	D;P	0.63113	0.911;0.722	T	0.02275	-1.1184	10	0.10902	T	0.67	.	18.9734	0.92724	0.0:0.0:1.0:0.0	.	791;760	Q9C0I4;C9JKN6	THS7B_HUMAN;.	N	791;791;760	ENSP00000387145:D791N;ENSP00000272643:D791N;ENSP00000413841:D760N	ENSP00000272643:D791N	D	+	1	0	THSD7B	137746677	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	4.071000	0.57556	2.776000	0.95493	0.655000	0.94253	GAT		PASS	0.388	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		15	25	15	25	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141819824	141819824	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:141819824G>A	ENST00000389484.3	-	8	2003	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	344					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.D344D(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)		CATTCCCGTAGTCAGTAAAGA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(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.(1030-1032)GAC>GAT		low density lipoprotein-related protein 1B							88.0	81.0	83.0					2																	141819824		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141819824G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1032C>T	2.37:g.141819824G>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D344D	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)	8	2004	-		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)	344			Extracellular (Potential).|LDL-receptor class B 3.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1032C>T	CCDS2182.1																																																																																				PASS	0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	45	4	45	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166758329	166758329	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:166758329C>G	ENST00000243344.7	-	20	2797	c.2660G>C	c.(2659-2661)tGt>tCt	p.C887S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	887					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.C887S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AATCTCTGCACAAATTTCAGC	0.408																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(2659-2661)TGT>TCT		tetratricopeptide repeat domain 21B							65.0	62.0	63.0					2																	166758329		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166758329C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2660G>C	2.37:g.166758329C>G	ENSP00000243344:p.Cys887Ser						p.C887S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			20	2793	-			887			TPR 13.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2660G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766262	0.90020	.	.	ENSG00000123607	ENST00000243344	T	0.64618	-0.11	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78460	-0.2195	10	0.42905	T	0.14	-16.4404	19.8381	0.96666	0.0:1.0:0.0:0.0	.	887	Q7Z4L5	TT21B_HUMAN	S	887	ENSP00000243344:C887S	ENSP00000243344:C887S	C	-	2	0	TTC21B	166466575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	2.692000	0.91855	0.650000	0.86243	TGT		PASS	0.408	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		46	52	46	52	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167141004	167141004	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:167141004G>A	ENST00000409435.1	-	11	1932	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	SCN9A_ENST00000375387.4_Silent_p.L646L|SCN9A_ENST00000303354.6_Silent_p.L646L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.L645L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	645					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L645L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCTCTGGCAGAAGCTGTCCA	0.542																																						uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1933-1935)CTG>TTG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						49.0	50.0	50.0					2																	167141004		2189	4296	6485	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141004G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1933C>T	2.37:g.167141004G>A						uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.L516L|SCN9A_uc002uds.1_Silent_p.L516L|SCN9A_uc002udt.1_Silent_p.L516L	p.L645L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2274	-			645					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1933C>T	CCDS46441.1																																																																																				PASS	0.542	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		8	27	8	27	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169792886	169792886	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:169792886T>G	ENST00000263817.6	-	22	2792	c.2668A>C	c.(2668-2670)Atg>Ctg	p.M890L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	890	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.M890L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCAATGATCATGGCCACAGTG	0.507																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2668-2670)ATG>CTG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						137.0	134.0	135.0					2																	169792886		2045	4210	6255	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169792886T>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2668A>C	2.37:g.169792886T>G	ENSP00000263817:p.Met890Leu					ABCB11_uc010zda.1_Missense_Mutation_p.M332L|ABCB11_uc010zdb.1_Missense_Mutation_p.M366L	p.M890L	NM_003742	NP_003733	O95342	ABCBB_HUMAN			22	2794	-			890			Helical; (Potential).|ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2668A>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625229	0.28889	.	.	ENSG00000073734	ENST00000263817	D	0.88201	-2.35	5.52	3.24	0.37175	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.324771	0.38720	N	0.001592	T	0.59715	0.2214	N	0.00140	-2.01	0.31397	N	0.677129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61143	-0.7122	10	0.30078	T	0.28	.	7.1128	0.25401	0.0:0.1578:0.2086:0.6336	.	332;890	B4DZQ8;O95342	.;ABCBB_HUMAN	L	890	ENSP00000263817:M890L	ENSP00000263817:M890L	M	-	1	0	ABCB11	169501132	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.859000	0.27858	0.943000	0.37553	0.459000	0.35465	ATG		PASS	0.507	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		17	123	17	123	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170493661	170493661	+	Silent	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:170493661A>T	ENST00000260970.3	+	14	2113	c.1893A>T	c.(1891-1893)tcA>tcT	p.S631S	PPIG_ENST00000409714.3_Silent_p.S616S|PPIG_ENST00000448752.2_Silent_p.S631S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	631	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.S631S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CACGGAGCTCAGAGAGAGAAG	0.438																																						uc002uez.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1891-1893)TCA>TCT		peptidylprolyl isomerase G	L-Proline(DB00172)						64.0	65.0	65.0					2																	170493661		2203	4300	6503	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493661A>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1893A>T	2.37:g.170493661A>T						PPIG_uc010fpx.2_Silent_p.S616S|PPIG_uc010fpy.2_Silent_p.S624S|PPIG_uc002ufb.2_Silent_p.S631S|PPIG_uc002ufd.2_Silent_p.S628S	p.S631S	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	2113	+			631			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1893A>T	CCDS2235.1																																																																																				PASS	0.438	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			7	65	7	65	---	---	---	---
METTL8	79828	broad.mit.edu	37	2	172216968	172216968	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:172216968C>G	ENST00000375258.4	-	3	414	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	67						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.E67Q(2)|p.E17Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GCTGAGTTTTCTTTTACTTTT	0.418																																						uc010zdo.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(199-201)GAA>CAA		methyltransferase like 8							149.0	136.0	141.0					2																	172216968		2203	4300	6503	SO:0001583	missense	79828						methyltransferase activity	g.chr2:172216968C>G	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.199G>C	2.37:g.172216968C>G	ENSP00000364407:p.Glu67Gln					METTL8_uc002ugu.3_Missense_Mutation_p.E67Q|METTL8_uc002ugv.3_Missense_Mutation_p.E67Q|METTL8_uc002ugt.3_Missense_Mutation_p.E67Q|METTL8_uc002ugs.3_Missense_Mutation_p.E17Q|METTL8_uc010zdp.1_Missense_Mutation_p.E22Q	p.E67Q	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN			3	340	-			67					Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37	c.199G>C		.	.	.	.	.	.	.	.	.	.	C	17.16	3.317575	0.60524	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846;ENST00000442541	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.52	4.64	0.57946	.	0.154341	0.56097	D	0.000024	T	0.38321	0.1036	L	0.48642	1.525	0.38860	D	0.956461	D;D;D	0.69078	0.995;0.977;0.997	P;P;P	0.61132	0.838;0.701;0.884	T	0.27468	-1.0073	10	0.52906	T	0.07	-2.0482	11.446	0.50123	0.0:0.9156:0.0:0.0844	.	22;67;67	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	Q	67	ENSP00000364407:E67Q;ENSP00000376377:E67Q;ENSP00000404646:E67Q;ENSP00000411589:E67Q;ENSP00000411942:E67Q	ENSP00000364407:E67Q	E	-	1	0	METTL8	171925214	0.987000	0.35691	0.993000	0.49108	0.608000	0.37181	2.889000	0.48601	1.459000	0.47892	0.591000	0.81541	GAA		PASS	0.418	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		17	83	17	83	---	---	---	---
HOXD3	3232	broad.mit.edu	37	2	177036830	177036830	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:177036830T>A	ENST00000468418.3	+	4	3217	c.1127T>A	c.(1126-1128)cTg>cAg	p.L376Q	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Missense_Mutation_p.L376Q|HOXD3_ENST00000249440.3_Missense_Mutation_p.L376Q			P31249	HXD3_HUMAN	homeobox D3	376					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L376Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GTCTTCAACCTGGGCCACCTC	0.687																																						uc002ukt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)CTG>CAG		homeobox D3							28.0	34.0	32.0					2																	177036830		2203	4299	6502	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036830T>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.1127T>A	2.37:g.177036830T>A	ENSP00000424734:p.Leu376Gln						p.L376Q	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	1303	+			376					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.1127T>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985880	0.74589	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.91945	-2.94;-2.94;-2.94	5.49	5.49	0.81192	.	0.131332	0.52532	D	0.000067	D	0.94072	0.8100	M	0.65677	2.01	0.46874	D	0.999235	D	0.53462	0.96	P	0.54815	0.761	D	0.94683	0.7867	10	0.87932	D	0	.	15.5742	0.76362	0.0:0.0:0.0:1.0	.	376	P31249	HXD3_HUMAN	Q	376	ENSP00000424734:L376Q;ENSP00000386498:L376Q;ENSP00000249440:L376Q	ENSP00000249440:L376Q	L	+	2	0	HOXD3	176745076	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.181000	0.71988	2.091000	0.63221	0.402000	0.26972	CTG		PASS	0.687	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			4	38	4	38	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413936	179413936	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:179413936G>A	ENST00000591111.1	-	289	87718	c.87494C>T	c.(87493-87495)gCa>gTa	p.A29165V	TTN_ENST00000342175.6_Missense_Mutation_p.A21933V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28238V|TTN_ENST00000589042.1_Missense_Mutation_p.A30806V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21866V|TTN_ENST00000460472.2_Missense_Mutation_p.A21741V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29165	Fibronectin type-III 112. {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.A21741V(1)|p.A21866V(1)|p.A28236V(1)|p.A21933V(1)|p.A28238V(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)			GATGCCACTTGCAGGTCCAAC	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(84712-84714)GCA>GTA		titin isoform N2-A							112.0	109.0	110.0					2																	179413936		1986	4166	6152	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413936G>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.87494C>T	2.37:g.179413936G>A	ENSP00000465570:p.Ala29165Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A21933V|TTN_uc010zfi.1_Missense_Mutation_p.A21866V|TTN_uc010zfj.1_Missense_Mutation_p.A21741V	p.A28238V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	84937	-			29165					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.84713C>T		.	.	.	.	.	.	.	.	.	.	G	15.14	2.744844	0.49151	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.3	5.3	0.74995	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58864	0.2152	M	0.66378	2.025	0.46901	D	0.999249	B;B;B;B	0.21905	0.062;0.03;0.03;0.062	B;B;B;B	0.30716	0.065;0.017;0.033;0.119	T	0.60047	-0.7339	9	0.87932	D	0	.	19.3251	0.94258	0.0:0.0:1.0:0.0	.	21741;21866;21933;29165	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	28238;21741;21933;21866;21738	ENSP00000343764:A28238V;ENSP00000434586:A21741V;ENSP00000340554:A21933V;ENSP00000352154:A21866V	ENSP00000340554:A21933V	A	-	2	0	TTN	179122182	1.000000	0.71417	0.926000	0.36857	0.303000	0.27691	7.850000	0.86915	2.625000	0.88918	0.563000	0.77884	GCA		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	52	35	52	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179471837	179471837	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:179471837T>C	ENST00000591111.1	-	228	48793	c.48569A>G	c.(48568-48570)cAa>cGa	p.Q16190R	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q8958R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q15263R|TTN_ENST00000589042.1_Missense_Mutation_p.Q17831R|TTN_ENST00000359218.5_Missense_Mutation_p.Q8891R|TTN_ENST00000460472.2_Missense_Mutation_p.Q8766R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16190	Fibronectin type-III 17. {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.Q15263R(2)|p.Q8958R(1)|p.Q8766R(1)|p.Q8891R(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)			CTTATATTCTTGTCCCTCAAG	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45787-45789)CAA>CGA		titin isoform N2-A							217.0	209.0	211.0					2																	179471837		1893	4122	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471837T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48569A>G	2.37:g.179471837T>C	ENSP00000465570:p.Gln16190Arg					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8958R|TTN_uc010zfi.1_Missense_Mutation_p.Q8891R|TTN_uc010zfj.1_Missense_Mutation_p.Q8766R	p.Q15263R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		227	46012	-			16190					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.45788A>G		.	.	.	.	.	.	.	.	.	.	T	12.75	2.030161	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.35	5.35	0.76521	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44808	0.1311	L	0.28556	0.865	0.44168	D	0.996973	B;B;B;B	0.31752	0.338;0.338;0.338;0.124	B;B;B;B	0.33121	0.158;0.158;0.158;0.158	T	0.49103	-0.8974	9	0.87932	D	0	.	15.3434	0.74314	0.0:0.0:0.0:1.0	.	8766;8891;8958;16190	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15263;8766;8958;8891;8766	ENSP00000343764:Q15263R;ENSP00000434586:Q8766R;ENSP00000340554:Q8958R;ENSP00000352154:Q8891R	ENSP00000340554:Q8958R	Q	-	2	0	TTN	179180082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.243000	0.72384	2.035000	0.60131	0.459000	0.35465	CAA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	313	25	313	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196765213	196765213	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr2:196765213G>T	ENST00000312428.6	-	28	4441	c.4341C>A	c.(4339-4341)ctC>ctA	p.L1447L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1447	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L1447L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGTCCGAAAGAGAGCCTATG	0.408																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(4339-4341)CTC>CTA		dynein, axonemal, heavy chain 7							112.0	107.0	108.0					2																	196765213		1900	4126	6026	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765213G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4341C>A	2.37:g.196765213G>T							p.L1447L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			28	4442	-			1447			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.4341C>A	CCDS42794.1																																																																																				PASS	0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		22	110	22	110	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40286056	40286056	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:40286056G>A	ENST00000302541.6	+	13	2562	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	MYRIP_ENST00000539167.1_Silent_p.Q553Q|MYRIP_ENST00000425621.1_Silent_p.Q675Q|MYRIP_ENST00000396217.3_Silent_p.Q651Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.Q740Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	740	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.Q740Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGGAGGACCAGGTGGCCACGG	0.607																																						uc003cka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2218-2220)CAG>CAA		myosin VIIA and Rab interacting protein							57.0	53.0	54.0					3																	40286056		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40286056G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2220G>A	3.37:g.40286056G>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.Q675Q|MYRIP_uc010hhw.2_Silent_p.Q651Q|MYRIP_uc011ayz.1_Silent_p.Q553Q|uc003ckb.2_Intron	p.Q740Q	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	13	2355	+			740			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.2220G>A	CCDS2689.1																																																																																				PASS	0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		10	41	10	41	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42680326	42680326	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:42680326G>C	ENST00000232978.8	+	13	3318	c.3130G>C	c.(3130-3132)Gtt>Ctt	p.V1044L	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1044					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V1044L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGAGAAAAAAGTTTCTGAAAA	0.373																																						uc003clo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3130-3132)GTT>CTT		natural killer-tumor recognition sequence							40.0	47.0	45.0					3																	42680326		2196	4284	6480	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680326G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3130G>C	3.37:g.42680326G>C	ENSP00000232978:p.Val1044Leu					NKTR_uc003clm.1_Missense_Mutation_p.V791L|NKTR_uc003clp.2_Missense_Mutation_p.V791L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.V934L|NKTR_uc003clr.1_Missense_Mutation_p.V791L|NKTR_uc003cls.2_Missense_Mutation_p.V744L	p.V1044L	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3277	+			1044						Missense_Mutation	SNP	ENST00000232978.8	37	c.3130G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274430	0.10403	.	.	ENSG00000114857	ENST00000232978	T	0.11604	2.76	5.18	2.32	0.28847	.	1.047260	0.07467	N	0.901630	T	0.12987	0.0315	L	0.53249	1.67	0.19775	N	0.999954	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.38436	-0.9661	10	0.28530	T	0.3	-0.2812	10.6004	0.45362	0.0686:0.2496:0.6818:0.0	.	744;1044	Q6M1B8;P30414	.;NKTR_HUMAN	L	1044	ENSP00000232978:V1044L	ENSP00000232978:V1044L	V	+	1	0	NKTR	42655330	0.001000	0.12720	0.017000	0.16124	0.942000	0.58702	0.521000	0.22893	0.254000	0.21573	0.650000	0.86243	GTT		PASS	0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		9	84	9	84	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51517747	51517747	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:51517747G>C	ENST00000335891.5	-	1	107	c.98C>G	c.(97-99)cCt>cGt	p.P33R				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	33					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.P33R(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGTAAGGATAGGTACCATGTC	0.443																																						uc003dbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(97-99)CCT>CGT		HIV-1 Vpr binding protein							134.0	121.0	125.0					3																	51517747		1917	4117	6034	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51517747G>C	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.98C>G	3.37:g.51517747G>C	ENSP00000338857:p.Pro33Arg					VPRBP_uc003dbg.1_Missense_Mutation_p.P33R	p.P33R	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	3	266	-			33					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.98C>G		.	.	.	.	.	.	.	.	.	.	G	16.06	3.016979	0.54576	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.59083	0.29;0.73	5.77	5.77	0.91146	.	0.323500	0.38326	N	0.001739	T	0.58061	0.2096	M	0.64997	1.995	0.25027	N	0.991294	P	0.36837	0.571	B	0.33295	0.161	T	0.60571	-0.7237	10	0.87932	D	0	-14.6962	19.6085	0.95589	0.0:0.0:1.0:0.0	.	33	Q9Y4B6	VPRBP_HUMAN	R	33	ENSP00000338857:P33R;ENSP00000421724:P33R	ENSP00000338857:P33R	P	-	2	0	VPRBP	51492787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.422000	0.66453	2.729000	0.93468	0.655000	0.94253	CCT		PASS	0.443	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		36	108	36	108	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486964	58486964	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:58486964G>A	ENST00000355076.6	+	2	1302	c.319G>A	c.(319-321)Gat>Aat	p.D107N	KCTD6_ENST00000490264.1_Missense_Mutation_p.D107N|KCTD6_ENST00000404589.3_Missense_Mutation_p.D107N	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	107					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)	p.D107N(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GTGTCTCAATGATCCTAAGCC	0.413																																						uc003dkj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(319-321)GAT>AAT		potassium channel tetramerisation domain							110.0	105.0	107.0					3																	58486964		2203	4300	6503	SO:0001583	missense	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486964G>A	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.319G>A	3.37:g.58486964G>A	ENSP00000347188:p.Asp107Asn					KCTD6_uc003dki.3_Missense_Mutation_p.D107N|KCTD6_uc003dkk.3_Missense_Mutation_p.D107N	p.D107N	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	3	436	+			107					B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	c.319G>A	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176094	0.38413	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.59364	0.27;0.27;0.27	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	N	0.11064	0.09	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.21759	-1.0236	10	0.37606	T	0.19	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	107	Q8NC69	KCTD6_HUMAN	N	107	ENSP00000384948:D107N;ENSP00000417490:D107N;ENSP00000347188:D107N	ENSP00000347188:D107N	D	+	1	0	KCTD6	58462004	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.869000	0.99810	2.719000	0.93026	0.655000	0.94253	GAT		PASS	0.413	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		31	102	31	102	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62477987	62477987	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:62477987C>T	ENST00000383710.4	-	20	3211	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L	CADPS_ENST00000357948.3_Silent_p.L924L|CADPS_ENST00000283269.9_Silent_p.L964L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	954	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L964L(1)|p.L954L(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAATCATTCAGCAGCTGAA	0.433																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2860-2862)CTG>CTA		Ca2+-dependent secretion activator isoform 1							241.0	231.0	234.0					3																	62477987		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62477987C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2862G>A	3.37:g.62477987C>T						CADPS_uc003dlk.1_Silent_p.L451L|CADPS_uc003dlm.2_Silent_p.L964L|CADPS_uc003dln.2_Silent_p.L924L	p.L954L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3222	-		Lung SC(41;0.0452)	954			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.2862G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	5.952	0.359732	0.11239	.	.	ENSG00000163618	ENST00000491424	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.47358	0.1441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42932	-0.9422	4	.	.	.	.	3.7507	0.08565	0.0:0.5207:0.2652:0.2141	.	.	.	.	K	257	.	.	E	-	1	0	CADPS	62453027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.263000	0.43293	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		113	100	113	100	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806143	97806144	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:97806143_97806144GG>CT	ENST00000358642.2	+	1	127_128	c.127_128GG>CT	c.(127-129)GGc>CTc	p.G43L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	43					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.G43R(1)|p.G43L(1)|p.G43V(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CACCATGGTGGGCAACCTTGGA	0.446																																						uc011bgs.1																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(127-129)GGC>CGC|c.(127-129)GGC>GTC		olfactory receptor, family 5, subfamily AC,																																				SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806143G>C|g.chr3:97806144G>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	Exception_encountered	3.37:g.97806143_97806144delinsCT	ENSP00000351466:p.Gly43Leu						p.G43R|p.G43V	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	127|128	+			43			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.127G>C|c.128G>T	CCDS33796.1																																																																																				PASS	0.446	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			53|54	369|370	53	369	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002381	98002381	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:98002381T>C	ENST00000355273.2	+	1	650	c.650T>C	c.(649-651)gTg>gCg	p.V217A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V217A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTCACCATTGTGACAGTTCTT	0.363																																						uc003dsj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(649-651)GTG>GCG		olfactory receptor, family 5, subfamily H,							91.0	92.0	91.0					3																	98002381		2203	4299	6502	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002381T>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.650T>C	3.37:g.98002381T>C	ENSP00000347418:p.Val217Ala						p.V217A	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	650	+			217			Helical; Name=5; (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.650T>C	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	T	5.370	0.253513	0.10185	.	.	ENSG00000197938	ENST00000355273	T	0.38240	1.15	3.03	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	1.395140	0.05419	U	0.543933	T	0.22820	0.0551	N	0.04116	-0.275	0.09310	N	1	B	0.25272	0.122	B	0.32980	0.156	T	0.39502	-0.9611	10	0.66056	D	0.02	.	7.3641	0.26762	0.0:0.0:0.2234:0.7766	.	217	Q8NGV7	OR5H2_HUMAN	A	217	ENSP00000347418:V217A	ENSP00000347418:V217A	V	+	2	0	OR5H2	99485071	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.422000	0.07043	0.342000	0.23796	0.338000	0.21704	GTG		PASS	0.363	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			56	112	56	112	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101044876	101044876	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:101044876G>T	ENST00000394095.2	-	24	3117	c.3064C>A	c.(3064-3066)Cct>Act	p.P1022T	SENP7_ENST00000394094.2_Missense_Mutation_p.P957T|SENP7_ENST00000394091.1_Missense_Mutation_p.P858T|SENP7_ENST00000348610.3_Missense_Mutation_p.P989T|SENP7_ENST00000358203.3_Missense_Mutation_p.P858T|SENP7_ENST00000394085.3_Missense_Mutation_p.P210T|SENP7_ENST00000314261.7_Missense_Mutation_p.P956T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1022	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.P956T(1)|p.P1022T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATGACGAGGAAACCACTTC	0.363																																						uc003dut.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(3064-3066)CCT>ACT		sentrin/SUMO-specific protease 7 isoform 1							111.0	100.0	104.0					3																	101044876		2203	4299	6502	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101044876G>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.3064C>A	3.37:g.101044876G>T	ENSP00000377655:p.Pro1022Thr					SENP7_uc003duu.2_Missense_Mutation_p.P957T|SENP7_uc003duv.2_Missense_Mutation_p.P989T|SENP7_uc003duw.2_Missense_Mutation_p.P956T|SENP7_uc003dux.2_Missense_Mutation_p.P858T|SENP7_uc003dus.2_Missense_Mutation_p.P210T	p.P1022T	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			24	3175	-			1022			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.3064C>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973149	0.74246	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	L	0.52823	1.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;1.0;0.997	T	0.46857	-0.9161	10	0.87932	D	0	-15.286	19.5547	0.95338	0.0:0.0:1.0:0.0	.	858;956;989;1022;210	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	T	1022;957;956;858;858;210;989	ENSP00000377655:P1022T;ENSP00000377654:P957T;ENSP00000313624:P956T;ENSP00000377651:P858T;ENSP00000350936:P858T;ENSP00000377647:P210T;ENSP00000342159:P989T	ENSP00000313624:P956T	P	-	1	0	SENP7	102527566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.882000	0.75589	2.694000	0.91930	0.585000	0.79938	CCT		PASS	0.363	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		15	125	15	125	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107492179	107492179	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:107492179A>C	ENST00000325805.8	+	11	1898	c.1611A>C	c.(1609-1611)aaA>aaC	p.K537N	BBX_ENST00000406780.1_Missense_Mutation_p.K537N|BBX_ENST00000402543.1_Missense_Mutation_p.K537N|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Missense_Mutation_p.K537N			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	537	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K537N(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAGAGAAGAAAATGTCAAAGG	0.448																																						uc010hpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1609-1611)AAA>AAC		HMG-BOX transcription factor BBX isoform 1							82.0	79.0	80.0					3																	107492179		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492179A>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1611A>C	3.37:g.107492179A>C	ENSP00000319974:p.Lys537Asn					BBX_uc003dwk.3_Missense_Mutation_p.K537N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.K558N|BBX_uc003dwm.3_Missense_Mutation_p.K537N|BBX_uc003dwo.3_5'Flank	p.K537N	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1938	+			537			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1611A>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115209	0.56505	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.07	2.35	0.29111	.	0.162750	0.53938	D	0.000041	T	0.57446	0.2054	L	0.29908	0.895	0.35587	D	0.806783	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.987;0.995;0.929	T	0.65928	-0.6049	10	0.87932	D	0	-16.2352	10.5514	0.45090	0.7097:0.0:0.2903:0.0	.	537;537;537	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	537	ENSP00000408358:K537N;ENSP00000385317:K537N;ENSP00000319974:K537N;ENSP00000385530:K537N	ENSP00000319974:K537N	K	+	3	2	BBX	108974869	0.732000	0.28121	1.000000	0.80357	0.922000	0.55478	0.469000	0.22067	0.502000	0.28037	-0.386000	0.06593	AAA		PASS	0.448	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		11	92	11	92	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108278663	108278663	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:108278663C>T	ENST00000295746.8	-	16	2030	c.1954G>A	c.(1954-1956)Gca>Aca	p.A652T	KIAA1524_ENST00000491772.1_Missense_Mutation_p.A493T|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	652					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A652T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGCCTGTGCAAGGGCTAGA	0.353																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1954-1956)GCA>ACA		p90 autoantigen							66.0	66.0	66.0					3																	108278663		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108278663C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1954G>A	3.37:g.108278663C>T	ENSP00000295746:p.Ala652Thr						p.A652T	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			16	2223	-			652			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1954G>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490764	0.84962	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.42513	0.97;0.97	6.03	6.03	0.97812	.	0.098325	0.64402	D	0.000001	T	0.57475	0.2056	L	0.56769	1.78	0.42183	D	0.991694	D	0.71674	0.998	P	0.60117	0.869	T	0.56805	-0.7918	10	0.56958	D	0.05	-14.9321	15.2928	0.73879	0.14:0.86:0.0:0.0	.	652	Q8TCG1	CIP2A_HUMAN	T	493;652	ENSP00000419487:A493T;ENSP00000295746:A652T	ENSP00000295746:A652T	A	-	1	0	KIAA1524	109761353	0.999000	0.42202	1.000000	0.80357	0.791000	0.44710	2.560000	0.45896	2.861000	0.98227	0.655000	0.94253	GCA		PASS	0.353	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		12	93	12	93	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121151797	121151797	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:121151797G>A	ENST00000264233.5	-	29	7755	c.7627C>T	c.(7627-7629)Cta>Tta	p.L2543L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2543					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.L2678L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTTCATATAGGAGTTCATCA	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(7627-7629)CTA>TTA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							121.0	114.0	116.0					3																	121151797		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121151797G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7627C>T	3.37:g.121151797G>A						POLQ_uc003eed.2_Silent_p.L1715L	p.L2543L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	29	7756	-			2543					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.7627C>T	CCDS33833.1																																																																																				PASS	0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		6	66	6	66	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129207101	129207101	+	Splice_Site	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:129207101C>T	ENST00000348417.2	+	16	1930	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	IFT122_ENST00000504021.1_Splice_Site_p.S512F|IFT122_ENST00000347300.2_Splice_Site_p.S559F|IFT122_ENST00000296266.3_Splice_Site_p.S669F|IFT122_ENST00000440957.2_Splice_Site_p.S409F|IFT122_ENST00000507564.1_Splice_Site_p.S610F|IFT122_ENST00000349441.2_Splice_Site_p.S507F|IFT122_ENST00000431818.2_Splice_Site_p.S468F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	618					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.S669F(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCCTGCAGTCCGCTCCCATG	0.488																																						uc003emm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1852-1854)TCC>TTC		WD repeat domain 10 isoform 2							91.0	86.0	88.0					3																	129207101		2203	4300	6503	SO:0001630	splice_region_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129207101C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1852-1C>T	3.37:g.129207101C>T						IFT122_uc003eml.2_Missense_Mutation_p.S669F|IFT122_uc003emn.2_Missense_Mutation_p.S559F|IFT122_uc003emo.2_Missense_Mutation_p.S507F|IFT122_uc003emp.2_Missense_Mutation_p.S468F|IFT122_uc010htc.2_Missense_Mutation_p.S610F|IFT122_uc011bky.1_Missense_Mutation_p.S409F|IFT122_uc003emq.2_Missense_Mutation_p.S458F|IFT122_uc003emr.2_Missense_Mutation_p.S409F|IFT122_uc011bla.1_Missense_Mutation_p.S409F|IFT122_uc010hte.2_5'UTR|IFT122_uc003ems.2_Missense_Mutation_p.S17F|IFT122_uc011bkx.1_Missense_Mutation_p.S458F|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_Missense_Mutation_p.S97F	p.S618F	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			16	2059	+			618					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1853C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240621	0.79912	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0;1.0;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D	0.87578	0.996;0.987;0.997;0.996;0.996;0.993;0.998;0.991;0.996	D	0.92680	0.6157	10	0.87932	D	0	-11.2324	17.3638	0.87358	0.0:1.0:0.0:0.0	.	409;610;23;512;458;507;559;618;669	E9PDG2;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;IF122_HUMAN;.	F	559;669;610;559;468;512;507;618;458;409;133	ENSP00000323973:S559F;ENSP00000296266:S669F;ENSP00000425536:S610F;ENSP00000410946:S468F;ENSP00000422179:S512F;ENSP00000324165:S507F;ENSP00000324005:S618F;ENSP00000401569:S409F;ENSP00000424727:S133F	ENSP00000296266:S669F	S	+	2	0	IFT122	130689791	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	7.548000	0.82154	2.085000	0.62840	0.505000	0.49811	TCC		PASS	0.488	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	Missense_Mutation	26	88	26	88	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130287388	130287388	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:130287388T>A	ENST00000358511.6	+	5	2372	c.2341T>A	c.(2341-2343)Ttt>Att	p.F781I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F781I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	781	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F781I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTTGAGAATTTTGACATTCT	0.463																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2341-2343)TTT>ATT		collagen type VI alpha 6 precursor							125.0	125.0	125.0					3																	130287388		1887	4104	5991	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287388T>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2341T>A	3.37:g.130287388T>A	ENSP00000351310:p.Phe781Ile						p.F781I	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2372	+			781			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2341T>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581314	0.86748	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79845	-1.31;-1.31	5.47	5.47	0.80525	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000016	D	0.91310	0.7260	M	0.93808	3.46	0.44789	D	0.997793	D	0.76494	0.999	D	0.75484	0.986	D	0.92527	0.6030	10	0.56958	D	0.05	.	11.2453	0.48993	0.1369:0.0:0.0:0.8631	.	781	A6NMZ7	CO6A6_HUMAN	I	781	ENSP00000351310:F781I;ENSP00000399236:F781I	ENSP00000351310:F781I	F	+	1	0	COL6A6	131770078	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.607000	0.82883	2.071000	0.62044	0.459000	0.35465	TTT		PASS	0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		25	109	25	109	---	---	---	---
CP	1356	broad.mit.edu	37	3	148925286	148925286	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:148925286G>A	ENST00000264613.6	-	5	1162	c.900C>T	c.(898-900)caC>caT	p.H300H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	300	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.H300H(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGCTTGCCCGTGAAAGAAAG	0.458																																						uc003ewy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(898-900)CAC>CAT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						134.0	118.0	123.0					3																	148925286		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925286G>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.900C>T	3.37:g.148925286G>A						CP_uc011bnr.1_RNA|CP_uc003ewx.3_Silent_p.H81H|CP_uc003ewz.2_Silent_p.H300H|CP_uc010hvf.1_Silent_p.H26H	p.H300H	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1153	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	300			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.900C>T	CCDS3141.1																																																																																				PASS	0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		22	88	22	88	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155211982	155211982	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:155211982G>A	ENST00000340059.7	-	16	2093	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	PLCH1_ENST00000494598.1_Silent_p.F698F|PLCH1_ENST00000460012.1_Silent_p.F680F|PLCH1_ENST00000414191.1_Silent_p.F680F|PLCH1_ENST00000447496.2_Silent_p.F698F|PLCH1_ENST00000334686.6_Silent_p.F680F	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	698	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.F698F(1)|p.F680F(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATTTGCCTTGAATTTGGCTC	0.408																																						uc011bok.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(2092-2094)TTC>TTT		phospholipase C eta 1 isoform a							230.0	202.0	211.0					3																	155211982		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155211982G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2094C>T	3.37:g.155211982G>A						PLCH1_uc011boj.1_Silent_p.F698F|PLCH1_uc011bol.1_Silent_p.F680F	p.F698F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		16	2371	-			698			PI-PLC Y-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2094C>T	CCDS46939.1																																																																																				PASS	0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		22	80	22	80	---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170732477	170732477	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:170732477T>C	ENST00000314251.3	-	3	231	c.152A>G	c.(151-153)gAt>gGt	p.D51G	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	51					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.D51G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TTTTCGGTCATCCAGTGGAAC	0.358																																						uc003fhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(151-153)GAT>GGT		solute carrier family 2 (facilitated glucose							159.0	157.0	157.0					3																	170732477		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170732477T>C	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.152A>G	3.37:g.170732477T>C	ENSP00000323568:p.Asp51Gly					SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	p.D51G	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	461	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		51			Extracellular (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.152A>G	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409374	0.42715	.	.	ENSG00000163581	ENST00000314251	T	0.73152	-0.72	5.84	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.404338	0.25481	N	0.030377	T	0.48926	0.1527	N	0.08118	0	0.80722	D	1	B	0.34103	0.437	B	0.34452	0.183	T	0.44390	-0.9331	10	0.29301	T	0.29	.	10.0486	0.42201	0.0:0.0:0.1693:0.8307	.	51	P11168	GTR2_HUMAN	G	51	ENSP00000323568:D51G	ENSP00000323568:D51G	D	-	2	0	SLC2A2	172215171	0.800000	0.28916	1.000000	0.80357	0.455000	0.32408	1.321000	0.33678	1.019000	0.39547	0.533000	0.62120	GAT		PASS	0.358	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		31	145	31	145	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171330190	171330191	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:171330190_171330191CC>AA	ENST00000351298.4	-	25	2886_2887	c.2760_2761GG>TT	c.(2758-2763)ctGGga>ctTTga	p.G921*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.G921*|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Nonsense_Mutation_p.G883*	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	921	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.G921*(2)|p.L920L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCACGCTTTCCCAGCATGCTGC	0.51																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|lung(1)	3						c.(2761-2763)GGA>TGA|c.(2758-2760)CTG>CTT		phospholipase D1 isoform a	Choline(DB00122)																																			SO:0001587	stop_gained	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171330190C>A|g.chr3:171330191C>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2760_2761delinsAA	3.37:g.171330190_171330191delinsAA	ENSP00000342793:p.Gly921*					PLD1_uc003fht.2_Nonsense_Mutation_p.G883*|PLD1_uc003fhu.3_Nonsense_Mutation_p.G215*|PLD1_uc003fht.2_Silent_p.L882L|PLD1_uc003fhu.3_Silent_p.L214L	p.G921*|p.L920L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	2877|2876	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		921|920			Catalytic.			Nonsense_Mutation|Silent	SNP	ENST00000351298.4	37	c.2761G>T|c.2760G>T	CCDS3216.1																																																																																				PASS	0.510	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		15	98|96	15	96	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180334415	180334415	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:180334415G>C	ENST00000442201.2	-	18	2594	c.2475C>G	c.(2473-2475)gaC>gaG	p.D825E	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	825					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.D825E(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAAGTTTGATGTCTTGTTCTT	0.303																																						uc010hxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2473-2475)GAC>GAG		coiled-coil domain containing 39							75.0	68.0	70.0					3																	180334415		1839	4075	5914	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334415G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2475C>G	3.37:g.180334415G>C	ENSP00000405708:p.Asp825Glu					CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	p.D825E	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2590	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		825			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2475C>G	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.176478|2.176478	0.38413|0.38413	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000442201|ENST00000473854	T|.	0.74947|.	-0.89|.	5.24|5.24	1.45|1.45	0.22620|0.22620	.|.	.|.	.|.	.|.	.|.	T|T	0.71896|0.71896	0.3394|0.3394	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74348|.	0.983|.	T|T	0.70267|0.70267	-0.4919|-0.4919	9|5	0.08837|.	T|.	0.75|.	.|.	9.0158|9.0158	0.36168|0.36168	0.3525:0.0:0.6475:0.0|0.3525:0.0:0.6475:0.0	.|.	825|.	Q9UFE4|.	CCD39_HUMAN|.	E|R	825|9	ENSP00000405708:D825E|.	ENSP00000405708:D825E|.	D|T	-|-	3|2	2|0	CCDC39|CCDC39	181817109|181817109	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.070000|0.070000	0.16714|0.16714	1.714000|1.714000	0.37961|0.37961	0.375000|0.375000	0.24679|0.24679	-0.459000|-0.459000	0.05422|0.05422	GAC|ACA		PASS	0.303	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	37	4	37	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517160	192517160	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr3:192517160C>T	ENST00000392452.2	-	2	811	c.491G>A	c.(490-492)tGc>tAc	p.C164Y		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	164							protein complex binding (GO:0032403)	p.C162Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AATGGTGCAGCAGTCTTTCCA	0.488																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)TGC>TAC		hypothetical protein LOC151963							87.0	86.0	86.0					3																	192517160		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517160C>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.491G>A	3.37:g.192517160C>T	ENSP00000376246:p.Cys164Tyr						p.C164Y	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	812	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		164					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.491G>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663684	0.67700	.	.	ENSG00000180611	ENST00000392452	T	0.08546	3.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	M	0.72894	2.215	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	T	0.00406	-1.1759	10	0.29301	T	0.29	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	164	Q8IYB1	M21D2_HUMAN	Y	164	ENSP00000376246:C164Y	ENSP00000376246:C164Y	C	-	2	0	MB21D2	193999854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	TGC		PASS	0.488	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		15	120	15	120	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42581886	42581886	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:42581886C>G	ENST00000381668.5	-	11	1175	c.944G>C	c.(943-945)gGc>gCc	p.G315A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G315A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	315					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G315A(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATGGCTGAGCCCACAGAACA	0.363																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(943-945)GGC>GCC		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						77.0	77.0	77.0					4																	42581886		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42581886C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.944G>C	4.37:g.42581886C>G	ENSP00000371084:p.Gly315Ala					ATP8A1_uc003gws.2_Missense_Mutation_p.G315A|ATP8A1_uc011byz.1_Missense_Mutation_p.G315A	p.G315A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			11	1176	-			315			Helical; (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.944G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700001	0.68501	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.90444	-2.67;-2.67	5.86	5.86	0.93980	ATPase, P-type, ATPase-associated domain (1);	0.051849	0.85682	D	0.000000	D	0.92648	0.7664	L	0.33245	0.995	0.80722	D	1	P;D;P	0.55800	0.773;0.973;0.484	P;D;B	0.65140	0.506;0.932;0.268	D	0.91510	0.5226	10	0.42905	T	0.14	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	315;315;315	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	A	315	ENSP00000371084:G315A;ENSP00000264449:G315A	ENSP00000264449:G315A	G	-	2	0	ATP8A1	42276643	1.000000	0.71417	0.977000	0.42913	0.771000	0.43674	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	GGC		PASS	0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		10	37	10	37	---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71670132	71670132	+	Splice_Site	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:71670132A>C	ENST00000381006.3	+	17	2297	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T	RUFY3_ENST00000502653.1_Splice_Site_p.K520T|RUFY3_ENST00000512331.1_3'UTR	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	0					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.K573T(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGCCTAACAAAGGTAACTGTG	0.512																																						uc003hfr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1717-1719)AAG>ACG		RUN and FYVE domain containing 3 isoform 1							80.0	75.0	77.0					4																	71670132		2203	4300	6503	SO:0001630	splice_region_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71670132A>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.1719+1A>C	4.37:g.71670132A>C						RUFY3_uc011cay.1_Missense_Mutation_p.K509T	p.K573T	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		17	2313	+		all_hematologic(202;0.248)	Error:Variant_position_missing_in_Q7L099_after_alignment					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000381006.3	37	c.1718A>C	CCDS34001.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367759	0.42003	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.79749	-1.3;-1.3	5.03	3.81	0.43845	.	0.074478	0.52532	D	0.000077	T	0.76673	0.4020	.	.	.	0.80722	D	1	P	0.37158	0.585	B	0.40101	0.319	T	0.76083	-0.3089	9	0.87932	D	0	-12.7105	8.7973	0.34887	0.832:0.0:0.0:0.168	.	573	Q7L099-3	.	T	573;520	ENSP00000370394:K573T;ENSP00000425400:K520T	ENSP00000370394:K573T	K	+	2	0	RUFY3	71888996	0.997000	0.39634	0.685000	0.30070	0.165000	0.22458	4.645000	0.61404	0.896000	0.36366	0.455000	0.32223	AAG		PASS	0.512	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252162.1	NM_014961	Missense_Mutation	10	34	10	34	---	---	---	---
ARHGEF38	54848	broad.mit.edu	37	4	106534556	106534556	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:106534556G>T	ENST00000420470.2	+	3	544	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.V134L	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	134	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V134L(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TAGGCTGGATGTGGATAGCTT	0.438																																						uc003hxu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(400-402)GTG>TTG		hypothetical protein LOC54848							203.0	186.0	192.0					4																	106534556		2203	4300	6503	SO:0001583	missense	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106534556G>T	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.400G>T	4.37:g.106534556G>T	ENSP00000416125:p.Val134Leu						p.V134L	NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN			3	546	+			134			DH.		C9JIB4	Missense_Mutation	SNP	ENST00000420470.2	37	c.400G>T	CCDS56338.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349107	0.61183	.	.	ENSG00000236699	ENST00000265154;ENST00000420470	T;T	0.61980	0.06;0.06	5.67	5.67	0.87782	Dbl homology (DH) domain (4);	0.069269	0.56097	D	0.000027	T	0.59211	0.2177	L	0.28556	0.865	0.43351	D	0.995413	P	0.52692	0.955	P	0.49192	0.602	T	0.52162	-0.8612	10	0.14252	T	0.57	0.9188	19.7657	0.96340	0.0:0.0:1.0:0.0	.	134	Q9NXL2	ARH38_HUMAN	L	134	ENSP00000265154:V134L;ENSP00000416125:V134L	ENSP00000265154:V134L	V	+	1	0	ARHGEF38	106754005	1.000000	0.71417	0.998000	0.56505	0.449000	0.32228	4.987000	0.63857	2.649000	0.89929	0.655000	0.94253	GTG		PASS	0.438	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		31	94	31	94	---	---	---	---
RPL34	6164	broad.mit.edu	37	4	109543360	109543360	+	Splice_Site	SNP	G	G	T	rs114737869	byFrequency	TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:109543360G>T	ENST00000394668.2	+	3	231	c.165G>T	c.(163-165)ggG>ggT	p.G55G	RPL34_ENST00000394665.1_Splice_Site_p.G55G|RPL34_ENST00000394667.3_Splice_Site_p.G55G|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000506397.1_Splice_Site_p.G55G|RPL34_ENST00000502534.1_Splice_Site_p.G55G	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	55					cellular protein metabolic process (GO:0044267)|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)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.G55G(1)		kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GACTTCGAGGGGTAAGTGTAC	0.458													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0					uc003hyz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)GGG>GGT		ribosomal protein L34		G	,	11,4393	16.8+/-37.8	0,11,2191	57.0	57.0	57.0		165,165	-6.9	0.9	4	dbSNP_132	57	0,8580		0,0,4290	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	RPL34	NM_000995.3,NM_033625.2	,	0,11,6481	TT,TG,GG		0.0,0.2498,0.0847	,	55/118,55/118	109543360	11,12973	2202	4290	6492	SO:0001630	splice_region_variant	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543360G>T	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"""L ribosomal proteins"""	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.165+1G>T	4.37:g.109543360G>T						LOC285456_uc003hyy.2_5'Flank|LOC285456_uc011cfl.1_5'Flank|RPL34_uc003hza.2_Silent_p.G55G	p.G55G	NM_000995	NP_000986	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	3	209	+		Hepatocellular(203;0.217)	55					Q6FG66|Q9BUZ2	Silent	SNP	ENST00000394668.2	37	c.165G>T	CCDS3680.1																																																																																				PASS	0.458	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995	Silent	13	34	13	34	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114279464	114279464	+	Silent	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:114279464G>C	ENST00000357077.4	+	38	9743	c.9690G>C	c.(9688-9690)acG>acC	p.T3230T	ANK2_ENST00000264366.6_Silent_p.T3197T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3230					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3230T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGTGCAAACGGGTGATATAC	0.488																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(9688-9690)ACG>ACC		ankyrin 2 isoform 1							89.0	84.0	86.0					4																	114279464		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114279464G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9690G>C	4.37:g.114279464G>C						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.T532T|ANK2_uc011cgb.1_Silent_p.T3245T	p.T3230T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9790	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3197					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9690G>C	CCDS3702.1																																																																																				PASS	0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	65	22	65	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121698419	121698419	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:121698419C>A	ENST00000264808.3	-	13	1701	c.1461G>T	c.(1459-1461)aaG>aaT	p.K487N	PRDM5_ENST00000515109.1_Missense_Mutation_p.K456N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K456N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	487					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K487N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGATTTTCTCCTTTTCTCCTG	0.378																																						uc003idn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1459-1461)AAG>AAT		PR domain containing 5							137.0	123.0	128.0					4																	121698419		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121698419C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1461G>T	4.37:g.121698419C>A	ENSP00000264808:p.Lys487Asn					PRDM5_uc003ido.2_Missense_Mutation_p.K456N|PRDM5_uc010ine.2_Missense_Mutation_p.K456N	p.K487N	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			13	1711	-			487					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1461G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520479	0.44866	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.26067	1.76;1.76;1.76	5.42	5.42	0.78866	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.167729	0.51477	D	0.000099	T	0.51363	0.1670	M	0.80422	2.495	0.80722	D	1	D;B;D	0.89917	1.0;0.007;1.0	D;B;D	0.87578	0.998;0.009;0.996	T	0.54906	-0.8223	10	0.72032	D	0.01	-8.3368	11.2835	0.49208	0.0:0.9098:0.0:0.0902	.	456;456;487	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	487;456;456	ENSP00000264808:K487N;ENSP00000422309:K456N;ENSP00000404832:K456N	ENSP00000264808:K487N	K	-	3	2	PRDM5	121917869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.925000	0.48884	2.563000	0.86464	0.650000	0.86243	AAG		PASS	0.378	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			39	82	39	82	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539071	187539071	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr4:187539071G>A	ENST00000441802.2	-	10	8878	c.8669C>T	c.(8668-8670)tCa>tTa	p.S2890L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2890	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2890L(1)|p.S2893L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCATGATCTGATGCAACCAC	0.428										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8668-8670)TCA>TTA		FAT tumor suppressor 1 precursor							177.0	162.0	167.0					4																	187539071		1990	4168	6158	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539071G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8669C>T	4.37:g.187539071G>A	ENSP00000406229:p.Ser2890Leu	HNSCC(5;0.00058)					p.S2890L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8857	-			2890			Extracellular (Potential).|Cadherin 26.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8669C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078038	0.36662	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52983	0.64	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.199221	0.44097	D	0.000498	T	0.44540	0.1298	L	0.46947	1.48	0.40964	D	0.984649	B	0.33448	0.412	B	0.37731	0.257	T	0.39981	-0.9587	10	0.36615	T	0.2	.	13.5145	0.61533	0.0:0.0:0.844:0.156	.	2890	Q14517	FAT1_HUMAN	L	2890;2892	ENSP00000406229:S2890L	ENSP00000260147:S2892L	S	-	2	0	FAT1	187776065	1.000000	0.71417	0.100000	0.21137	0.091000	0.18340	5.429000	0.66495	2.682000	0.91365	0.650000	0.86243	TCA		PASS	0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	26	15	26	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1406353	1406353	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:1406353T>A	ENST00000270349.9	-	12	1676	c.1549A>T	c.(1549-1551)Agc>Tgc	p.S517C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.S517C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	517					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.S517C(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)	CAGTACAGGCTGGGCCGCTGC	0.657																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(1549-1551)AGC>TGC		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)						65.0	64.0	64.0					5																	1406353		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406353T>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.1549A>T	5.37:g.1406353T>A	ENSP00000270349:p.Ser517Cys						p.S517C	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1670	-			517					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1549A>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.026631	0.75390	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75260	-0.92;-0.92	4.19	3.07	0.35406	.	0.343265	0.30714	N	0.009039	T	0.73241	0.3562	L	0.43701	1.375	0.26711	N	0.970969	P	0.46859	0.885	P	0.57548	0.823	T	0.62497	-0.6842	10	0.40728	T	0.16	.	4.2829	0.10841	0.0:0.5222:0.0:0.4778	.	517	Q01959	SC6A3_HUMAN	C	517	ENSP00000270349:S517C;ENSP00000399806:S517C	ENSP00000270349:S517C	S	-	1	0	SLC6A3	1459353	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.275000	0.65575	0.501000	0.28013	0.248000	0.18094	AGC		PASS	0.657	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		48	45	48	45	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9066614	9066614	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:9066614G>C	ENST00000382496.5	-	17	2883	c.2218C>G	c.(2218-2220)Ccg>Gcg	p.P740A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	740	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.P740A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCAAATTCGGATCAGCCAGG	0.557																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2218-2220)CCG>GCG		semaphorin 5A precursor							163.0	154.0	157.0					5																	9066614		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066614G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2218C>G	5.37:g.9066614G>C	ENSP00000371936:p.Pro740Ala						p.P740A	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2930	-			740			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2218C>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703694	0.68501	.	.	ENSG00000112902	ENST00000382496	T	0.35421	1.31	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	L	0.28504	0.86	0.80722	D	1	B	0.22080	0.064	B	0.29440	0.102	T	0.07966	-1.0745	10	0.54805	T	0.06	.	17.5918	0.87999	0.0:0.0:1.0:0.0	.	740	Q13591	SEM5A_HUMAN	A	740	ENSP00000371936:P740A	ENSP00000371936:P740A	P	-	1	0	SEMA5A	9119614	1.000000	0.71417	0.714000	0.30535	0.935000	0.57460	6.228000	0.72288	2.761000	0.94854	0.591000	0.81541	CCG		PASS	0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			20	179	20	179	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629815	9629815	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:9629815G>A	ENST00000382492.2	-	1	648	c.330C>T	c.(328-330)gtC>gtT	p.V110V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	110					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V110V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GTGGGTGACGGACGCTGGCAA	0.448																																						uc003jem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(328-330)GTC>GTT		taste receptor T2R1							37.0	39.0	38.0					5																	9629815		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629815G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.330C>T	5.37:g.9629815G>A							p.V110V	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	649	-			110			Cytoplasmic (Potential).		Q646G8	Silent	SNP	ENST00000382492.2	37	c.330C>T	CCDS3876.1																																																																																				PASS	0.448	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			7	23	7	23	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13841814	13841814	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:13841814G>A	ENST00000265104.4	-	33	5575	c.5471C>T	c.(5470-5472)tCc>tTc	p.S1824F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1824	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1824F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCAGGGAAGGATGAAAGAAA	0.368									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5470-5472)TCC>TTC		dynein, axonemal, heavy chain 5							85.0	83.0	84.0					5																	13841814		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841814G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5471C>T	5.37:g.13841814G>A	ENSP00000265104:p.Ser1824Phe						p.S1824F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5513	-	Lung NSC(4;0.00476)		1824			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5471C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131917	0.56828	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	6.03	5.12	0.69794	.	0.110354	0.64402	N	0.000006	T	0.34745	0.0908	M	0.76328	2.33	0.54753	D	0.999989	P	0.39831	0.69	B	0.40901	0.343	T	0.22730	-1.0208	10	0.59425	D	0.04	.	14.3206	0.66484	0.0746:0.0:0.9254:0.0	.	1824	Q8TE73	DYH5_HUMAN	F	1824	ENSP00000265104:S1824F	ENSP00000265104:S1824F	S	-	2	0	DNAH5	13894814	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.674000	0.61612	1.465000	0.48006	-0.345000	0.07892	TCC		PASS	0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		9	71	9	71	---	---	---	---
TARS	6897	broad.mit.edu	37	5	33455798	33455798	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:33455798G>T	ENST00000265112.3	+	6	993	c.682G>T	c.(682-684)Gca>Tca	p.A228S	TARS_ENST00000541634.1_Missense_Mutation_p.A124S|TARS_ENST00000455217.2_Missense_Mutation_p.A261S|TARS_ENST00000414361.2_Missense_Mutation_p.A107S|TARS_ENST00000502553.1_Missense_Mutation_p.A228S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	228					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.A228S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AACTTTACTGGCAATGTTTAA	0.373																																						uc003jhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(682-684)GCA>TCA		threonyl-tRNA synthetase	L-Threonine(DB00156)						63.0	66.0	65.0					5																	33455798		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33455798G>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.682G>T	5.37:g.33455798G>T	ENSP00000265112:p.Ala228Ser					TARS_uc011cob.1_Missense_Mutation_p.A216S|TARS_uc010iup.1_Missense_Mutation_p.A169S|TARS_uc011coc.1_Missense_Mutation_p.A249S|TARS_uc003jhz.2_Missense_Mutation_p.A124S|TARS_uc011cod.1_Missense_Mutation_p.A107S	p.A228S	NM_152295	NP_689508	P26639	SYTC_HUMAN			6	977	+			228					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.682G>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003324	0.54254	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.35	4.46	0.54185	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.090083	0.85682	D	0.000000	T	0.08179	0.0204	L	0.28192	0.835	0.27811	N	0.942141	B;B;B;B	0.11235	0.004;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.0;0.001;0.0	T	0.13791	-1.0496	10	0.59425	D	0.04	-27.0648	15.9754	0.80060	0.0:0.1353:0.8647:0.0	.	107;261;124;228	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	S	228;228;124;261;107	ENSP00000424387:A228S;ENSP00000265112:A228S;ENSP00000438469:A124S;ENSP00000387710:A261S;ENSP00000394291:A107S	ENSP00000265112:A228S	A	+	1	0	TARS	33491555	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	6.725000	0.74752	1.251000	0.43983	-0.301000	0.09380	GCA		PASS	0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		33	55	33	55	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33630995	33630995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:33630995G>A	ENST00000504830.1	-	13	2247	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	638	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R638*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTATGGGTCGGCAGTAGAGC	0.473										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1912-1914)CGA>TGA		ADAM metallopeptidase with thrombospondin type 1							94.0	94.0	94.0					5																	33630995		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33630995G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1912C>T	5.37:g.33630995G>A	ENSP00000422554:p.Arg638*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.R638*	NM_030955	NP_112217	P58397	ATS12_HUMAN			13	2075	-			638			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.1912C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	43	10.018570	0.99318	.	.	ENSG00000151388	ENST00000504830	.	.	.	5.45	4.56	0.56223	.	0.131532	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0045	0.58696	0.0:0.0:0.6971:0.3029	.	.	.	.	X	638	.	ENSP00000422554:R638X	R	-	1	2	ADAMTS12	33666752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.528000	0.60580	1.237000	0.43756	0.650000	0.86243	CGA		PASS	0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		5	76	5	76	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35694425	35694425	+	Silent	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:35694425A>T	ENST00000356031.3	+	13	2089	c.1935A>T	c.(1933-1935)tcA>tcT	p.S645S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.S645S|SPEF2_ENST00000509059.1_Silent_p.S645S	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	645					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S645S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCCAGTTTCAGATGAAGTAT	0.343																																						uc003jjo.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1933-1935)TCA>TCT		KPL2 protein isoform 1							92.0	87.0	89.0					5																	35694425		1833	4095	5928	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35694425A>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1935A>T	5.37:g.35694425A>T						SPEF2_uc003jjq.3_Silent_p.S645S|SPEF2_uc003jjp.1_Silent_p.S136S	p.S645S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	2046	+	all_lung(31;7.56e-05)		645					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.1935A>T	CCDS43309.1																																																																																				PASS	0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	43	6	43	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71490073	71490073	+	Silent	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:71490073C>G	ENST00000296755.7	+	5	1189	c.891C>G	c.(889-891)ctC>ctG	p.L297L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	297					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.L297L(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)		TCTGGAAGCTCATCCGACACT	0.483																																					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.(889-891)CTC>CTG		microtubule-associated protein 1B							84.0	87.0	86.0					5																	71490073		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490073C>G	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.891C>G	5.37:g.71490073C>G						MAP1B_uc010iyw.1_Silent_p.L314L|MAP1B_uc010iyx.1_Silent_p.L171L|MAP1B_uc010iyy.1_Silent_p.L171L	p.L297L	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1132	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	297					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.891C>G	CCDS4012.1																																																																																				PASS	0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		46	46	46	46	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648397	127648397	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:127648397C>T	ENST00000508053.1	-	43	5782	c.4808G>A	c.(4807-4809)cGc>cAc	p.R1603H	FBN2_ENST00000262464.4_Missense_Mutation_p.R1603H			P35556	FBN2_HUMAN	fibrillin 2	1603	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1603H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGAAGAGCGACTGACGCC	0.552																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4807-4809)CGC>CAC		fibrillin 2 precursor							228.0	235.0	233.0					5																	127648397		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648397C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4808G>A	5.37:g.127648397C>T	ENSP00000424571:p.Arg1603His						p.R1603H	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5247	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1603			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4808G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520173	0.64747	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92911	-3.13;-3.13	5.3	4.42	0.53409	Matrix fibril-associated (3);TGF-beta binding (1);	0.095008	0.47093	D	0.000245	D	0.91005	0.7171	M	0.82323	2.585	0.37733	D	0.925359	B	0.33477	0.413	B	0.23716	0.048	D	0.92397	0.5926	10	0.56958	D	0.05	.	14.3907	0.66975	0.0:0.9282:0.0:0.0718	.	1603	P35556	FBN2_HUMAN	H	1603	ENSP00000262464:R1603H;ENSP00000424571:R1603H	ENSP00000262464:R1603H	R	-	2	0	FBN2	127676296	0.988000	0.35896	0.998000	0.56505	0.990000	0.78478	1.528000	0.35985	2.769000	0.95229	0.655000	0.94253	CGC		PASS	0.552	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	363	10	363	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215054	140215054	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:140215054C>T	ENST00000525929.1	+	1	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.D362D|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	362	Cadherin 4. {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.D362D(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGAGGACGCCCAACCAG	0.517																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(1084-1086)GAC>GAT		protocadherin alpha 7 isoform 1 precursor							168.0	153.0	158.0					5																	140215054		2203	4299	6502	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215054C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1086C>T	5.37:g.140215054C>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_uc011dac.1_Silent_p.D362D	p.D362D	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1086	+			362			Cadherin 4.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1086C>T	CCDS54918.1																																																																																				PASS	0.517	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		27	83	27	83	---	---	---	---
NMUR2	56923	broad.mit.edu	37	5	151784573	151784573	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:151784573G>A	ENST00000255262.3	-	1	267	c.102C>T	c.(100-102)gcC>gcT	p.A34A	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	34					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.A34A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCAGAGGAAGGCCAGATACT	0.527																																						uc003luv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(100-102)GCC>GCT		neuromedin U receptor 2							101.0	101.0	101.0					5																	151784573		2203	4300	6503	SO:0001819	synonymous_variant	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784573G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.102C>T	5.37:g.151784573G>A							p.A34A	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	268	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	34			Extracellular (Potential).		Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	c.102C>T	CCDS4321.1																																																																																				PASS	0.527	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		15	38	15	38	---	---	---	---
TRIM41	90933	broad.mit.edu	37	5	180660676	180660676	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr5:180660676C>T	ENST00000315073.5	+	5	1914	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.P402S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	402					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P402S(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCTGGTCCCCTGACCCGTG	0.592																																						uc003mne.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1204-1206)CCT>TCT		tripartite motif-containing 41 isoform 1							78.0	77.0	77.0					5																	180660676		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180660676C>T	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1204C>T	5.37:g.180660676C>T	ENSP00000320869:p.Pro402Ser					uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.P402S|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_5'UTR	p.P402S	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1898	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	402					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1204C>T	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	6.998	0.554233	0.13374	.	.	ENSG00000146063	ENST00000515499;ENST00000351937;ENST00000315073	T;T;T	0.53640	1.22;1.06;0.61	5.42	5.42	0.78866	.	0.399443	0.21502	N	0.073503	T	0.37839	0.1018	N	0.05124	-0.11	0.33713	D	0.616054	B;D	0.61697	0.006;0.99	B;P	0.57776	0.003;0.827	T	0.21552	-1.0242	10	0.05525	T	0.97	.	14.712	0.69241	0.0:1.0:0.0:0.0	.	402;402	Q8WV44;Q8WV44-2	TRI41_HUMAN;.	S	112;402;402	ENSP00000426803:P112S;ENSP00000336749:P402S;ENSP00000320869:P402S	ENSP00000320869:P402S	P	+	1	0	TRIM41	180593282	0.989000	0.36119	1.000000	0.80357	1.000000	0.99986	2.385000	0.44371	2.533000	0.85409	0.655000	0.94253	CCT		PASS	0.592	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		5	70	5	70	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327435	28327435	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:28327435C>T	ENST00000377255.3	+	3	369	c.72C>T	c.(70-72)gtC>gtT	p.V24V	ZKSCAN3_ENST00000252211.2_Silent_p.V24V|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	24					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V24V(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGCTTCTGGTCATAAAGGTGG	0.572																																						uc003nle.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(70-72)GTC>GTT		zinc finger with KRAB and SCAN domains 3							92.0	96.0	94.0					6																	28327435		2203	4300	6503	SO:0001819	synonymous_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327435C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.72C>T	6.37:g.28327435C>T						ZKSCAN3_uc010jrc.2_Silent_p.V24V|ZKSCAN3_uc003nlf.3_Intron	p.V24V	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	288	+			24					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	ENST00000377255.3	37	c.72C>T	CCDS4650.1																																																																																				PASS	0.572	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		100	59	100	59	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39869080	39869080	+	Missense_Mutation	SNP	C	C	A	rs148294935		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:39869080C>A	ENST00000398904.2	+	24	2996	c.2814C>A	c.(2812-2814)ttC>ttA	p.F938L	RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.F938L|DAAM2_ENST00000538976.1_Missense_Mutation_p.F937L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	938	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.F937L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGACAGTTCGCCAAGGCCT	0.572																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2812-2814)TTC>TTA		dishevelled associated activator of							155.0	158.0	157.0					6																	39869080		2069	4207	6276	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869080C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2814C>A	6.37:g.39869080C>A	ENSP00000381876:p.Phe938Leu					DAAM2_uc003oox.2_Missense_Mutation_p.F937L	p.F938L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			24	2970	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		938			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2814C>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187168	0.57909	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17691	2.26;2.26;2.26	5.5	-4.36	0.03645	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.058008	0.64402	D	0.000002	T	0.18509	0.0444	M	0.87328	2.875	0.40438	D	0.980016	P;P	0.50710	0.938;0.567	P;B	0.48901	0.594;0.348	T	0.46091	-0.9216	10	0.66056	D	0.02	.	14.6719	0.68951	0.0:0.2819:0.0:0.7181	.	937;938	G5EA45;Q86T65	.;DAAM2_HUMAN	L	938;938;937	ENSP00000274867:F938L;ENSP00000381876:F938L;ENSP00000437808:F937L	ENSP00000274867:F938L	F	+	3	2	DAAM2	39977058	0.002000	0.14202	0.870000	0.34147	0.746000	0.42486	-0.764000	0.04735	-0.795000	0.04462	-0.136000	0.14681	TTC		PASS	0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			5	212	5	212	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51640615	51640615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:51640615C>A	ENST00000371117.3	-	54	8820	c.8545G>T	c.(8545-8547)Gga>Tga	p.G2849*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.G2849*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2849	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G2849*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAATTGTTCCTGGGTCAATA	0.333																																						uc003pah.1																			2	Substitution - Nonsense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8545-8547)GGA>TGA		fibrocystin isoform 1							60.0	61.0	60.0					6																	51640615		2203	4298	6501	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51640615C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8545G>T	6.37:g.51640615C>A	ENSP00000360158:p.Gly2849*					PKHD1_uc010jzn.1_Nonsense_Mutation_p.G832*|PKHD1_uc003pai.2_Nonsense_Mutation_p.G2849*	p.G2849*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			54	8821	-	Lung NSC(77;0.0605)		2849			G8 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.8545G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	51	17.686470	0.99891	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	16.8316	0.85946	0.0:1.0:0.0:0.0	.	.	.	.	X	2849	.	ENSP00000341097:G2849X	G	-	1	0	PKHD1	51748574	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.845000	0.62853	2.664000	0.90586	0.313000	0.20887	GGA		PASS	0.333	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		34	57	34	57	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88125496	88125496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:88125496G>T	ENST00000507897.1	+	5	459	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	C6ORF165_ENST00000369562.4_Nonsense_Mutation_p.E126*			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	126								p.E126*(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCTAAAGAAGAATTGGAAAG	0.438																																						uc003plv.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(376-378)GAA>TAA		hypothetical protein LOC154313 isoform 1							115.0	116.0	115.0					6																	88125496		2203	4300	6503	SO:0001587	stop_gained	154313							g.chr6:88125496G>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.376G>T	6.37:g.88125496G>T	ENSP00000426769:p.Glu126*					C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Nonsense_Mutation_p.E126*	p.E126*	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	5	468	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	126					A8K969|E1P507|Q8N9U4	Nonsense_Mutation	SNP	ENST00000507897.1	37	c.376G>T	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	36	5.829634	0.96996	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	.	.	.	5.6	5.6	0.85130	.	0.110886	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.2026	0.93717	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000358575:E126X	E	+	1	0	C6orf165	88182215	1.000000	0.71417	0.964000	0.40570	0.877000	0.50540	8.650000	0.91073	2.640000	0.89533	0.585000	0.79938	GAA		PASS	0.438	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		18	52	18	52	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90390407	90390407	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:90390407G>A	ENST00000369393.3	-	74	12281	c.12166C>T	c.(12166-12168)Cgc>Tgc	p.R4056C	MDN1_ENST00000428876.1_Missense_Mutation_p.R4056C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4056					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R4056C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGGCAAGCGACGCAGAAGC	0.572																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(12166-12168)CGC>TGC		MDN1, midasin homolog							75.0	67.0	70.0					6																	90390407		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90390407G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12166C>T	6.37:g.90390407G>A	ENSP00000358400:p.Arg4056Cys						p.R4056C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	74	12282	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4056					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12166C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365837	0.41902	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03951	3.75;3.75	5.02	5.02	0.67125	.	0.062472	0.64402	D	0.000004	T	0.05547	0.0146	M	0.83012	2.62	0.80722	D	1	D	0.54047	0.964	B	0.37304	0.246	T	0.25257	-1.0137	10	0.72032	D	0.01	.	17.9521	0.89057	0.0:0.0:1.0:0.0	.	4056	Q9NU22	MDN1_HUMAN	C	4056	ENSP00000358400:R4056C;ENSP00000413970:R4056C	ENSP00000358400:R4056C	R	-	1	0	MDN1	90447128	1.000000	0.71417	0.641000	0.29422	0.105000	0.19272	8.096000	0.89537	2.327000	0.79052	0.561000	0.74099	CGC		PASS	0.572	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	30	8	30	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	101847225	101847225	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:101847225G>A	ENST00000421544.1	+	1	562	c.72G>A	c.(70-72)ctG>ctA	p.L24L	GRIK2_ENST00000318991.6_Silent_p.L24L|GRIK2_ENST00000369137.3_Silent_p.L24L|GRIK2_ENST00000413795.1_Silent_p.L24L|GRIK2_ENST00000358361.3_Silent_p.L24L|GRIK2_ENST00000369138.1_Silent_p.L24L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	24					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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 cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L24L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTGTTTACTGTGGATTGGAT	0.478																																						uc003pqp.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(70-72)CTG>CTA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						169.0	154.0	160.0					6																	101847225		2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:101847225G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.72G>A	6.37:g.101847225G>A						GRIK2_uc003pqn.2_Silent_p.L24L|GRIK2_uc003pqo.3_Silent_p.L24L|GRIK2_uc010kcw.2_Silent_p.L24L	p.L24L	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	1	321	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	24					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.72G>A	CCDS5048.1																																																																																				PASS	0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			22	78	22	78	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128150678	128150678	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:128150678C>T	ENST00000368248.2	-	3	800	c.652G>A	c.(652-654)Gac>Aac	p.D218N	THEMIS_ENST00000537166.1_Missense_Mutation_p.D183N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D218N|THEMIS_ENST00000368250.1_Missense_Mutation_p.D139N	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	218	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D218N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCATAAAAGTCTTTAGGAAAT	0.358																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(652-654)GAC>AAC		thymocyte selection pathway associated isoform							115.0	113.0	114.0					6																	128150678		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150678C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.652G>A	6.37:g.128150678C>T	ENSP00000357231:p.Asp218Asn					THEMIS_uc010kfa.2_Missense_Mutation_p.D121N|THEMIS_uc011ebt.1_Missense_Mutation_p.D218N|THEMIS_uc010kfb.2_Missense_Mutation_p.D183N	p.D218N	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	971	-			218			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.652G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	4.640	0.118932	0.08881	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	6.14	4.35	0.52113	.	0.430962	0.26631	N	0.023319	T	0.01627	0.0052	N	0.04880	-0.145	0.26630	N	0.972488	B;B	0.14438	0.01;0.002	B;B	0.12156	0.003;0.007	T	0.44019	-0.9355	10	0.06236	T	0.91	-4.0573	11.5369	0.50643	0.0:0.7985:0.0:0.2015	.	218;218	F5H1J9;Q8N1K5	.;THMS1_HUMAN	N	139;218;218;183	ENSP00000357233:D139N;ENSP00000439594:D218N;ENSP00000357231:D218N;ENSP00000439863:D183N	ENSP00000357231:D218N	D	-	1	0	THEMIS	128192371	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.443000	0.35057	1.612000	0.50221	0.650000	0.86243	GAC		PASS	0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		18	77	18	77	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086522	144086522	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:144086522G>T	ENST00000427704.2	+	6	916	c.786G>T	c.(784-786)ggG>ggT	p.G262G	PHACTR2_ENST00000367582.3_Silent_p.G193G|PHACTR2_ENST00000367584.4_Silent_p.G250G|PHACTR2_ENST00000305766.6_Silent_p.G182G|PHACTR2_ENST00000440869.2_Silent_p.G273G	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	262							protein phosphatase inhibitor activity (GO:0004864)	p.G273G(1)|p.G182G(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGACAGTGGGGACCACCAAGG	0.507																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(784-786)GGG>GGT		phosphatase and actin regulator 2 isoform 3							89.0	94.0	92.0					6																	144086522		2008	4180	6188	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086522G>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.786G>T	6.37:g.144086522G>T						PHACTR2_uc010khh.2_Silent_p.G182G|PHACTR2_uc010khi.2_Silent_p.G273G|PHACTR2_uc003qjr.3_Silent_p.G193G	p.G262G	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	916	+			262					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.786G>T	CCDS47492.1																																																																																				PASS	0.507	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		16	56	16	56	---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147637480	147637480	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:147637480A>T	ENST00000321680.6	+	16	1739	c.1739A>T	c.(1738-1740)cAg>cTg	p.Q580L	STXBP5_ENST00000367480.3_Missense_Mutation_p.Q580L|STXBP5_ENST00000179882.6_Missense_Mutation_p.Q251L|STXBP5_ENST00000367481.3_Missense_Mutation_p.Q580L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	580					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.Q580L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATCCCTCCTCAGTCTCATCCA	0.448																																						uc003qlz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1738-1740)CAG>CTG		syntaxin binding protein 5 (tomosyn) isoform b							80.0	79.0	79.0					6																	147637480		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147637480A>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1739A>T	6.37:g.147637480A>T	ENSP00000321826:p.Gln580Leu					STXBP5_uc010khz.1_Missense_Mutation_p.Q580L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.Q251L	p.Q580L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	16	1900	+		Ovarian(120;0.0164)	580			WD 9.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1739A>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999461	0.35320	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.84	4.65	0.58169	WD40 repeat-like-containing domain (1);	0.756829	0.13431	N	0.388447	T	0.11196	0.0273	L	0.38531	1.155	0.58432	D	0.999997	B;P;P	0.35656	0.435;0.514;0.514	B;B;B	0.32805	0.153;0.098;0.139	T	0.07083	-1.0791	10	0.19590	T	0.45	.	12.9895	0.58610	0.8649:0.1351:0.0:0.0	.	580;580;251	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	L	580;580;580;251	ENSP00000356451:Q580L;ENSP00000321826:Q580L;ENSP00000356450:Q580L;ENSP00000179882:Q251L	ENSP00000179882:Q251L	Q	+	2	0	STXBP5	147679173	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	5.391000	0.66266	0.993000	0.38866	0.533000	0.62120	CAG		PASS	0.448	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			12	42	12	42	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152777154	152777154	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:152777154C>T	ENST00000367255.5	-	23	3195	c.2594G>A	c.(2593-2595)tGt>tAt	p.C865Y	SYNE1_ENST00000413186.2_Missense_Mutation_p.C865Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.C872Y|SYNE1_ENST00000495090.2_Missense_Mutation_p.C432Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.C917Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.C865Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.C865Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.C872Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.C855Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	865					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.C865Y(2)|p.C872Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTTTCTTACAGTTTTCTTG	0.373										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2593-2595)TGT>TAT		spectrin repeat containing, nuclear envelope 1							114.0	110.0	111.0					6																	152777154		2202	4300	6502	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777154C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2594G>A	6.37:g.152777154C>T	ENSP00000356224:p.Cys865Tyr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.C872Y|SYNE1_uc003qou.3_Missense_Mutation_p.C865Y|SYNE1_uc010kjb.1_Missense_Mutation_p.C848Y|SYNE1_uc003qow.2_Missense_Mutation_p.C160Y|SYNE1_uc003qox.1_Missense_Mutation_p.C381Y|SYNE1_uc003qoz.2_Missense_Mutation_p.C297Y|SYNE1_uc003qoy.2_Missense_Mutation_p.C432Y	p.C865Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3196	-		Ovarian(120;0.0955)	865			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2594G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347023	0.61183	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.79454	1.41;1.41;1.41;1.41;-1.27;1.41;1.41;1.41;1.41	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000017	D	0.84451	0.5475	M	0.66939	2.045	0.80722	D	1	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	0.97110	0.998;0.999;0.994;1.0;0.999;0.999;1.0	T	0.82200	-0.0575	10	0.33940	T	0.23	.	18.8405	0.92182	0.0:1.0:0.0:0.0	.	848;865;432;855;865;865;872	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Y	865;872;865;872;917;865;855;865;432	ENSP00000356224:C865Y;ENSP00000396024:C872Y;ENSP00000265368:C865Y;ENSP00000390975:C872Y;ENSP00000341887:C917Y;ENSP00000356222:C865Y;ENSP00000356217:C855Y;ENSP00000414510:C865Y;ENSP00000438508:C432Y	ENSP00000265368:C865Y	C	-	2	0	SYNE1	152818847	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.386000	0.66238	2.450000	0.82876	0.655000	0.94253	TGT		PASS	0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	65	27	65	---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr6:160237602C>T	ENST00000610273.1	+	14	1226	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468																																						uc003qsx.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1054-1056)GCG>GTG		poly(A)-specific ribonuclease (PARN)-like domain							140.0	137.0	138.0					6																	160237602		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237602C>T	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1055C>T	6.37:g.160237602C>T	ENSP00000476448:p.Ala352Val					PNLDC1_uc003qsy.1_Missense_Mutation_p.A363V	p.A352V	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	14	1226	+		Breast(66;0.00519)|Ovarian(120;0.123)	352			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1055C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729123	0.48833	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22743	1.94;1.94	5.61	4.72	0.59763	Ribonuclease H-like (1);	0.087082	0.49916	D	0.000134	T	0.24353	0.0590	M	0.63843	1.955	0.23325	N	0.9979	D;D	0.69078	0.996;0.997	P;P	0.56960	0.786;0.81	T	0.06250	-1.0837	10	0.62326	D	0.03	.	14.5927	0.68378	0.0:0.7243:0.2757:0.0	.	363;352	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	V	352;363	ENSP00000275275:A352V;ENSP00000376007:A363V	ENSP00000275275:A352V	A	+	2	0	PNLDC1	160157592	0.751000	0.28327	0.000000	0.03702	0.377000	0.30045	1.241000	0.32743	1.335000	0.45486	0.555000	0.69702	GCG		PASS	0.468	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		19	71	19	71	---	---	---	---
GET4	51608	broad.mit.edu	37	7	934986	934986	+	Missense_Mutation	SNP	G	G	C	rs372845658		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:934986G>C	ENST00000265857.3	+	9	1005	c.911G>C	c.(910-912)aGc>aCc	p.S304T	GET4_ENST00000407192.1_Missense_Mutation_p.S251T	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	304					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)		p.S304T(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTTCTGACCAGCCTCATGGGC	0.642																																						uc003sjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)AGC>ACC		hypothetical protein LOC51608							72.0	69.0	70.0					7																	934986		2203	4300	6503	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:934986G>C	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.911G>C	7.37:g.934986G>C	ENSP00000265857:p.Ser304Thr					GET4_uc003sjj.1_RNA	p.S304T	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN			9	1003	+			304					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.911G>C	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	13.57	2.276489	0.40294	.	.	ENSG00000239857	ENST00000265857;ENST00000407192	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.47190	1.495	0.80722	D	1	P	0.44044	0.825	B	0.39419	0.299	T	0.54503	-0.8284	9	0.33940	T	0.23	-18.5781	17.2837	0.87135	0.0:0.0:1.0:0.0	.	304	Q7L5D6	GET4_HUMAN	T	304;251	.	ENSP00000265857:S304T	S	+	2	0	GET4	901512	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	8.034000	0.88864	2.076000	0.62316	0.197000	0.17608	AGC		PASS	0.642	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		23	58	23	58	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1516229	1516229	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:1516229C>A	ENST00000404767.3	-	37	5213	c.5128G>T	c.(5128-5130)Ggg>Tgg	p.G1710W	INTS1_ENST00000389470.4_Missense_Mutation_p.G1909W	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1710					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.G1909W(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGTCCCGCCCCTGCCAGATG	0.687																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5128-5130)GGG>TGG		integrator complex subunit 1							39.0	47.0	45.0					7																	1516229		2011	4146	6157	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516229C>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5128G>T	7.37:g.1516229C>A	ENSP00000385722:p.Gly1710Trp					INTS1_uc003skm.1_5'Flank	p.G1710W	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	37	5229	-		Ovarian(82;0.0253)	1710					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5128G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146866	0.94603	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	D;T	0.81579	-1.51;-1.24	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.79258	2.445	0.80722	D	1	D	0.55172	0.97	P	0.45913	0.497	D	0.87507	0.2437	10	0.87932	D	0	.	18.5364	0.91011	0.0:1.0:0.0:0.0	.	1710	Q8N201	INT1_HUMAN	W	1710;1909	ENSP00000385722:G1710W;ENSP00000374121:G1909W	ENSP00000374121:G1909W	G	-	1	0	INTS1	1482755	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.422000	0.80217	2.386000	0.81285	0.561000	0.74099	GGG		PASS	0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			20	39	20	39	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6189570	6189570	+	Silent	SNP	G	G	A	rs374369760		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:6189570G>A	ENST00000306177.5	+	13	1901	c.1743G>A	c.(1741-1743)ccG>ccA	p.P581P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	581					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.P581P(1)|p.P709P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TAACAAAACCGATCCCCCGCA	0.527																																						uc011jwo.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1741-1743)CCG>CCA		ubiquitin specific peptidase 42		G		0,3846		0,0,1923	62.0	64.0	63.0		1743	-2.6	0.0	7		63	1,8277		0,1,4138	no	coding-synonymous	USP42	NM_032172.2		0,1,6061	AA,AG,GG		0.0121,0.0,0.0082		581/1317	6189570	1,12123	1923	4139	6062	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189570G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1743G>A	7.37:g.6189570G>A						USP42_uc010kth.1_Silent_p.P514P|USP42_uc011jwp.1_Silent_p.P581P|USP42_uc011jwq.1_Silent_p.P388P|USP42_uc011jwr.1_Silent_p.P426P	p.P581P	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1866	+		Ovarian(82;0.0423)	581					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.1743G>A	CCDS47535.1																																																																																				PASS	0.527	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		3	42	3	42	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20197949	20197949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:20197949C>A	ENST00000400331.5	-	5	2343	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	MACC1_ENST00000332878.4_Nonsense_Mutation_p.E679*|MACC1_ENST00000589011.1_Nonsense_Mutation_p.E679*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	679					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E679*(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCAAAATCTTCCAGGGACAGA	0.343																																						uc003sus.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2035-2037)GAA>TAA		putative binding protein 7a5							62.0	64.0	63.0					7																	20197949		2203	4300	6503	SO:0001587	stop_gained	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20197949C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2035G>T	7.37:g.20197949C>A	ENSP00000383185:p.Glu679*					MACC1_uc010kug.2_Nonsense_Mutation_p.E679*	p.E679*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	2344	-			679					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Nonsense_Mutation	SNP	ENST00000400331.5	37	c.2035G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	37	6.251194	0.97412	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	.	.	.	5.62	3.74	0.42951	.	0.136950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.4604	16.3064	0.82849	0.0:0.7856:0.2144:0.0	.	.	.	.	X	679	.	ENSP00000328410:E679X	E	-	1	0	MACC1	20164474	0.997000	0.39634	0.822000	0.32727	0.194000	0.23727	3.266000	0.51569	0.670000	0.31165	0.563000	0.77884	GAA		PASS	0.343	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		11	71	11	71	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30921895	30921895	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:30921895G>T	ENST00000265299.6	+	16	2148	c.2071G>T	c.(2071-2073)Gac>Tac	p.D691Y	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.D37Y|AQP1_ENST00000509504.1_Missense_Mutation_p.D154Y	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	691								p.D691Y(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCCTGCGTGACTGGAGGAC	0.612																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2071-2073)GAC>TAC		hypothetical protein LOC84182							58.0	61.0	60.0					7																	30921895		1952	4142	6094	SO:0001583	missense	84182							g.chr7:30921895G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.2071G>T	7.37:g.30921895G>T	ENSP00000265299:p.Asp691Tyr					FAM188B_uc010kwe.2_Missense_Mutation_p.D662Y|AQP1_uc011kac.1_Missense_Mutation_p.D37Y|FAM188B_uc003tbu.2_Missense_Mutation_p.D211Y	p.D691Y	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			16	2148	+			691					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.2071G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660737	0.29515	.	.	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;T;T	0.47177	0.85;0.85;0.85	5.38	3.56	0.40772	.	0.235594	0.43747	D	0.000538	T	0.64875	0.2638	M	0.76574	2.34	0.44736	D	0.997737	P;D;D	0.76494	0.912;0.999;0.996	P;D;D	0.71870	0.757;0.975;0.937	T	0.66236	-0.5974	10	0.87932	D	0	-21.8477	10.4238	0.44365	0.1627:0.0:0.8373:0.0	.	37;211;691	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	Y	691;211;37;154	ENSP00000265299:D691Y;ENSP00000395059:D37Y;ENSP00000421315:D154Y	ENSP00000265299:D691Y	D	+	1	0	RP5-877J2.1;FAM188B;AQP1	30888420	0.998000	0.40836	0.636000	0.29352	0.340000	0.28889	2.820000	0.48057	0.642000	0.30620	0.655000	0.94253	GAC		PASS	0.612	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		17	44	17	44	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31611726	31611726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:31611726C>T	ENST00000407970.3	+	6	357	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CCDC129_ENST00000451887.2_Nonsense_Mutation_p.Q133*|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.Q107*|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.Q15*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	107								p.Q107*(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCTTTGCATCAGTTTTCAGA	0.403																																						uc003tcj.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(319-321)CAG>TAG		coiled-coil domain containing 129							114.0	101.0	105.0					7																	31611726		2203	4300	6503	SO:0001587	stop_gained	223075							g.chr7:31611726C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.319C>T	7.37:g.31611726C>T	ENSP00000384416:p.Gln107*					CCDC129_uc011kad.1_Nonsense_Mutation_p.Q117*|CCDC129_uc003tci.1_Nonsense_Mutation_p.Q106*|CCDC129_uc011kae.1_Nonsense_Mutation_p.Q133*|CCDC129_uc003tck.1_Nonsense_Mutation_p.Q15*	p.Q107*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			6	1312	+			107					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	ENST00000407970.3	37	c.319C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433159	0.83776	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.54	2.53	0.30540	.	0.592591	0.15228	N	0.273564	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.9539	3.447	0.07484	0.2377:0.3962:0.2847:0.0815	.	.	.	.	X	107;107;107;107;107;133;117;15	.	ENSP00000313062:Q107X	Q	+	1	0	CCDC129	31578251	0.996000	0.38824	0.994000	0.49952	0.954000	0.61252	1.160000	0.31761	0.675000	0.31264	0.655000	0.94253	CAG		PASS	0.403	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		4	25	4	25	---	---	---	---
SSC4D	136853	broad.mit.edu	37	7	76026960	76026960	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:76026960G>A	ENST00000275560.3	-	6	1090	c.743C>T	c.(742-744)aCc>aTc	p.T248I	ZP3_ENST00000336517.4_5'UTR	NM_080744.1	NP_542782.1												p.T248I(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GATGTGTCCGGTGCCATAGCC	0.701																																						uc003ufc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(-222--218)CGGTG>CGATG		zona pellucida glycoprotein 3 isoform 2							28.0	33.0	31.0					7																	76026960		2202	4298	6500	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76026960G>A																												ENST00000275560.3:c.743C>T	7.37:g.76026960G>A	ENSP00000275560:p.Thr248Ile					SRCRB4D_uc003ufb.2_Missense_Mutation_p.T248I		NM_007155	NP_009086	P21754	ZP3_HUMAN			1	120	+									Translation_Start_Site	SNP	ENST00000275560.3	37	c.-220G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.491402	0.84962	.	.	ENSG00000146700	ENST00000275560	T	0.46063	0.88	5.26	5.26	0.73747	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.62612	0.2442	M	0.75615	2.305	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	T	0.65681	-0.6109	9	0.72032	D	0.01	.	13.6479	0.62292	0.0774:0.0:0.9225:0.0	.	248	Q8WTU2	SRB4D_HUMAN	I	248	ENSP00000275560:T248I	ENSP00000275560:T248I	T	-	2	0	SRCRB4D	75864896	0.992000	0.36948	0.996000	0.52242	0.864000	0.49448	2.057000	0.41365	2.627000	0.88993	0.550000	0.68814	ACC		PASS	0.701	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			8	12	8	12	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97822522	97822522	+	Silent	SNP	G	G	T	rs570314330		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:97822522G>T	ENST00000297293.5	+	11	3038	c.2745G>T	c.(2743-2745)ggG>ggT	p.G915G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	915					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.G915G(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGAGTGTAGGGAGTAGTCTCC	0.532																																						uc003upd.1																			2	Substitution - coding silent(2)		lung(2)	lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(2743-2745)GGG>GGT		lemur tyrosine kinase 2 precursor							81.0	77.0	78.0					7																	97822522		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822522G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2745G>T	7.37:g.97822522G>T							p.G915G	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	3038	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		915					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.2745G>T	CCDS5654.1																																																																																				PASS	0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		15	91	15	91	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99023070	99023070	+	Missense_Mutation	SNP	C	C	A	rs141837479		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:99023070C>A	ENST00000292478.4	-	6	1335	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	PTCD1_ENST00000555673.1_Missense_Mutation_p.R411L|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R411L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	362					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.R362L(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCTTGGCCGCTGCCTGCT	0.647																																						uc003uqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)CGG>CTG		pentatricopeptide repeat domain 1							61.0	60.0	60.0					7																	99023070		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99023070C>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1085G>T	7.37:g.99023070C>A	ENSP00000292478:p.Arg362Leu					PTCD1_uc011kiw.1_Missense_Mutation_p.R411L	p.R362L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1216	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		362					Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1085G>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	5.940	0.357421	0.11239	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.65549	-0.16;-0.15;-0.15	5.84	-6.75	0.01738	.	2.189110	0.01477	N	0.016527	T	0.49626	0.1568	L	0.37561	1.115	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.32428	-0.9907	10	0.27785	T	0.31	-1.1977	11.1814	0.48631	0.0876:0.2823:0.0:0.63	.	411;362	G3V325;O75127	.;PTCD1_HUMAN	L	362;144;411;411	ENSP00000292478:R362L;ENSP00000450995:R411L;ENSP00000400168:R411L	ENSP00000400168:R411L	R	-	2	0	ATP5J2-PTCD1;PTCD1	98861006	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.962000	0.01514	-1.289000	0.02375	-0.997000	0.02515	CGG		PASS	0.647	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		29	75	29	75	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99091835	99091835	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:99091835C>A	ENST00000337673.6	-	3	1206	c.1003G>T	c.(1003-1005)Gac>Tac	p.D335Y	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	335					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D335Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTCCACTGTCAGACTTGTGA	0.493																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GAC>TAC		zinc finger protein 394							126.0	113.0	117.0					7																	99091835		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091835C>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1003G>T	7.37:g.99091835C>A	ENSP00000337363:p.Asp335Tyr					ZNF394_uc003uqt.2_Missense_Mutation_p.D128Y	p.D335Y	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			3	1164	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		335					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1003G>T	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192766	0.21954	.	.	ENSG00000160908	ENST00000337673	T	0.05786	3.39	3.86	-0.296	0.12824	.	1.418690	0.04623	N	0.402371	T	0.03959	0.0111	N	0.08118	0	0.09310	N	0.999999	B	0.25719	0.132	B	0.27608	0.081	T	0.43114	-0.9411	10	0.87932	D	0	.	3.9754	0.09472	0.1511:0.4641:0.2945:0.0902	.	335	Q53GI3	ZN394_HUMAN	Y	335	ENSP00000337363:D335Y	ENSP00000337363:D335Y	D	-	1	0	ZNF394	98929771	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.314000	0.19432	-0.060000	0.13132	-0.162000	0.13425	GAC		PASS	0.493	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		39	97	39	97	---	---	---	---
NAA38	84316	broad.mit.edu	37	7	117825716	117825716	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:117825716G>C	ENST00000249299.2	+	2	232	c.40G>C	c.(40-42)Gcc>Ccc	p.A14P	NAA38_ENST00000422760.1_5'UTR|NAA38_ENST00000424702.1_Missense_Mutation_p.A14P	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	54					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)		p.A14P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGAACTGTTGCCGTTATTAC	0.343																																						uc003vjg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GCC>CCC		U6 snRNA-associated Sm-like protein LSm8							278.0	239.0	252.0					7																	117825716		2203	4300	6503	SO:0001583	missense	51691				nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	g.chr7:117825716G>C		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.40G>C	7.37:g.117825716G>C	ENSP00000249299:p.Ala14Pro						p.A14P	NM_016200	NP_057284	O95777	NAA38_HUMAN			2	232	+			14					Q8N4M0	Missense_Mutation	SNP	ENST00000249299.2	37	c.40G>C	CCDS5775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948731	0.73787	.	.	ENSG00000128534	ENST00000249299;ENST00000424702;ENST00000411938	T;T;T	0.44482	0.92;0.92;0.92	5.61	5.61	0.85477	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.121964	0.53938	D	0.000048	T	0.44582	0.1300	.	.	.	0.80722	D	1	B	0.31459	0.324	B	0.38156	0.266	T	0.22871	-1.0204	9	0.33141	T	0.24	-27.2528	19.6373	0.95740	0.0:0.0:1.0:0.0	.	14	O95777	NAA38_HUMAN	P	14;14;25	ENSP00000249299:A14P;ENSP00000395263:A14P;ENSP00000408267:A25P	ENSP00000249299:A14P	A	+	1	0	NAA38	117612952	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	8.627000	0.90974	2.648000	0.89879	0.555000	0.69702	GCC		PASS	0.343	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356		8	118	8	118	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122111574	122111574	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:122111574A>G	ENST00000449022.2	-	14	2060	c.2041T>C	c.(2041-2043)Tgt>Cgt	p.C681R	CADPS2_ENST00000313070.7_Missense_Mutation_p.C678R|CADPS2_ENST00000412584.2_Missense_Mutation_p.C678R|CADPS2_ENST00000334010.7_Missense_Mutation_p.C682R	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	681					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.C681R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TAACGGGCACAGTACTCATCT	0.418																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2041-2043)TGT>CGT		Ca2+-dependent activator protein for secretion 2							63.0	63.0	63.0					7																	122111574		1946	4158	6104	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111574A>G		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.2041T>C	7.37:g.122111574A>G	ENSP00000398481:p.Cys681Arg					CADPS2_uc011knx.1_Missense_Mutation_p.C52R|CADPS2_uc003vkg.3_Missense_Mutation_p.C378R|CADPS2_uc010lkq.2_Missense_Mutation_p.C678R	p.C681R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			13	2204	-			681					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2041T>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.025365|4.025365	0.75390|0.75390	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44|.	5.91|5.91	4.73|4.73	0.59995|0.59995	.|.	0.052586|.	0.85682|.	D|.	0.000000|.	T|T	0.74397|0.74397	0.3711|0.3711	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.76494|.	0.998;0.999;0.998;0.879|.	D;D;D;P|.	0.80764|.	0.994;0.986;0.993;0.472|.	T|T	0.75001|0.75001	-0.3471|-0.3471	10|5	0.87932|.	D|.	0|.	-9.4861|-9.4861	12.2965|12.2965	0.54849|0.54849	0.8729:0.0:0.0:0.127|0.8729:0.0:0.0:0.127	.|.	681;678;681;678|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	R|P	678;682;682;645;678;681|326	ENSP00000325581:C678R;ENSP00000333940:C682R;ENSP00000400401:C678R;ENSP00000398481:C681R|.	ENSP00000325581:C678R|.	C|L	-|-	1|2	0|0	CADPS2|CADPS2	121898810|121898810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.464000|7.464000	0.80887|0.80887	1.018000|1.018000	0.39521|0.39521	0.533000|0.533000	0.62120|0.62120	TGT|CTG		PASS	0.418	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		2	18	2	18	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128413738	128413738	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:128413738A>C	ENST00000249389.2	-	4	891	c.892T>G	c.(892-894)Tac>Gac	p.Y298D		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	298					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.Y298D(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATGGGATTGTAGATGCAAGCA	0.458																																						uc003vnt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)TAC>GAC		opsin 1 (cone pigments), short-wave-sensitive							124.0	102.0	110.0					7																	128413738		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128413738A>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.892T>G	7.37:g.128413738A>C	ENSP00000249389:p.Tyr298Asp						p.Y298D	NM_001708	NP_001699	P03999	OPSB_HUMAN			4	892	-			298			Helical; Name=7; (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.892T>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149597	0.78001	.	.	ENSG00000128617	ENST00000249389	T	0.37915	1.17	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83131	-0.0113	10	0.87932	D	0	.	13.1311	0.59382	1.0:0.0:0.0:0.0	.	298	P03999	OPSB_HUMAN	D	298	ENSP00000249389:Y298D	ENSP00000249389:Y298D	Y	-	1	0	OPN1SW	128200974	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.107000	0.94261	2.206000	0.71126	0.533000	0.62120	TAC		PASS	0.458	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		11	41	11	41	---	---	---	---
WDR91	29062	broad.mit.edu	37	7	134881005	134881005	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:134881005G>T	ENST00000354475.4	-	8	1166	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Silent_p.R379R|WDR91_ENST00000423565.1_Silent_p.R344R|AC009542.2_ENST00000412549.2_RNA	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	379								p.R379W(1)|p.R379R(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GAGGATGCCCGAGTCAGTGGC	0.622																																						uc003vsp.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(1135-1137)CGG>AGG		WD repeat domain 91							47.0	48.0	47.0					7																	134881005		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134881005G>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1135C>A	7.37:g.134881005G>T						WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	p.R379R	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			8	1197	-			379					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.1135C>A	CCDS34758.1																																																																																				PASS	0.622	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		3	40	3	40	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141727446	141727446	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:141727446C>T	ENST00000549489.2	+	10	1227	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	MGAM_ENST00000475668.2_Missense_Mutation_p.L378F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	378	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L378F(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACTGGGCGCTTGGATTTCA	0.443																																						uc003vwy.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1132-1134)CTT>TTT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						65.0	63.0	63.0					7																	141727446		1856	4094	5950	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727446C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1132C>T	7.37:g.141727446C>T	ENSP00000447378:p.Leu378Phe						p.L378F	NM_004668	NP_004659	O43451	MGA_HUMAN			10	1186	+	Melanoma(164;0.0272)		378			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1132C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932945	0.92458	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92299	-3.01	5.55	5.55	0.83447	Glycoside hydrolase, superfamily (1);	0.000000	0.49305	D	0.000147	D	0.95765	0.8622	M	0.76170	2.325	0.49299	D	0.999777	D	0.89917	1.0	D	0.97110	1.0	D	0.95308	0.8409	10	0.54805	T	0.06	.	17.0425	0.86493	0.0:1.0:0.0:0.0	.	378	O43451	MGA_HUMAN	F	378;378;255	ENSP00000447378:L378F	ENSP00000316431:L255F	L	+	1	0	MGAM	141373915	1.000000	0.71417	0.977000	0.42913	0.820000	0.46376	5.560000	0.67332	2.885000	0.99019	0.655000	0.94253	CTT		PASS	0.443	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	65	10	65	---	---	---	---
TMEM176B	28959	broad.mit.edu	37	7	150493564	150493564	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr7:150493564C>T	ENST00000447204.2	-	2	466	c.94G>A	c.(94-96)Gct>Act	p.A32T	TMEM176B_ENST00000326442.5_Missense_Mutation_p.A32T|TMEM176B_ENST00000450753.2_Missense_Mutation_p.A32T|TMEM176B_ENST00000434545.1_Missense_Mutation_p.A32T|TMEM176B_ENST00000429904.2_Missense_Mutation_p.A32T|TMEM176B_ENST00000492607.1_Missense_Mutation_p.A32T	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	32					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A32T(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTGTCAAAGCTGACTCCTGG	0.527																																						uc003wht.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)GCT>ACT		transmembrane protein 176B isoform a							100.0	91.0	94.0					7																	150493564		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493564C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.94G>A	7.37:g.150493564C>T	ENSP00000410269:p.Ala32Thr					TMEM176B_uc003whu.3_Missense_Mutation_p.A32T|TMEM176B_uc003whv.3_Missense_Mutation_p.A32T|TMEM176B_uc003whw.3_Missense_Mutation_p.A32T	p.A32T	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	260	-			32					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.94G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323471	0.24080	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.11604	2.89;2.89;2.89;2.89;2.89;2.76	4.92	2.05	0.26809	.	3.111420	0.01474	U	0.016418	T	0.17109	0.0411	M	0.69823	2.125	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.17433	0.011;0.018	T	0.31081	-0.9956	10	0.56958	D	0.05	-0.192	6.7163	0.23304	0.1438:0.6844:0.0:0.1717	.	32;32	E9PAV4;Q3YBM2	.;T176B_HUMAN	T	32	ENSP00000419258:A32T;ENSP00000318409:A32T;ENSP00000410269:A32T;ENSP00000413531:A32T;ENSP00000397810:A32T;ENSP00000404831:A32T	ENSP00000318409:A32T	A	-	1	0	TMEM176B	150124497	0.005000	0.15991	0.000000	0.03702	0.047000	0.14425	1.002000	0.29796	-0.097000	0.12307	-1.595000	0.00837	GCT		PASS	0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		26	54	26	54	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35606179	35606179	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:35606179A>T	ENST00000404895.2	+	12	2229	c.1901A>T	c.(1900-1902)cAt>cTt	p.H634L	UNC5D_ENST00000420357.1_Missense_Mutation_p.H567L|UNC5D_ENST00000416672.1_Missense_Mutation_p.H639L|UNC5D_ENST00000449677.1_Missense_Mutation_p.H210L|UNC5D_ENST00000453357.2_Missense_Mutation_p.H629L|UNC5D_ENST00000287272.2_Missense_Mutation_p.H565L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	634	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.H629L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGAATATCCATTTAAAGAAG	0.468																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1900-1902)CAT>CTT		unc-5 homolog D precursor							144.0	130.0	135.0					8																	35606179		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35606179A>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1901A>T	8.37:g.35606179A>T	ENSP00000385143:p.His634Leu					UNC5D_uc003xjs.1_Missense_Mutation_p.H629L|UNC5D_uc003xju.1_Missense_Mutation_p.H210L	p.H634L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	2229	+			634			ZU5.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1901A>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440627	0.43326	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	6.07	6.07	0.98685	ZU5 (2);	0.232836	0.52532	D	0.000074	T	0.28863	0.0716	N	0.22421	0.69	0.46823	D	0.999214	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.08848	-1.0702	10	0.42905	T	0.14	-20.0489	9.597	0.39580	0.8656:0.0:0.1344:0.0	.	210;629;634	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	634;567;565;639;629;210	ENSP00000385143:H634L;ENSP00000392739:H567L;ENSP00000287272:H565L;ENSP00000412652:H639L;ENSP00000394303:H629L;ENSP00000397211:H210L	ENSP00000287272:H565L	H	+	2	0	UNC5D	35725721	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	2.361000	0.44160	2.326000	0.78906	0.533000	0.62120	CAT		PASS	0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			13	146	13	146	---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37556171	37556171	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:37556171C>A	ENST00000331569.4	+	2	1981	c.1752C>A	c.(1750-1752)gcC>gcA	p.A584A		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	584					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A584A(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			TAGCTTCAGCCTCGGCGCTGG	0.662																																						uc003xjy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1750-1752)GCC>GCA		zinc finger protein 703							35.0	31.0	32.0					8																	37556171		2203	4300	6503	SO:0001819	synonymous_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37556171C>A	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1752C>A	8.37:g.37556171C>A							p.A584A	NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1949	+			584					Q5XG76	Silent	SNP	ENST00000331569.4	37	c.1752C>A	CCDS6094.1																																																																																				PASS	0.662	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		5	52	5	52	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834699	41834699	+	Missense_Mutation	SNP	T	T	C	rs199725455		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:41834699T>C	ENST00000396930.3	-	8	1733	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	KAT6A_ENST00000265713.2_Missense_Mutation_p.N397S|KAT6A_ENST00000485568.1_Missense_Mutation_p.N397S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N397S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	397	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N397S(1)									CAAGGAGACATTGCTATCTCT	0.453													t|||	1	0.000199681	0.0	0.0	5008	,	,		15907	0.0		0.001	False		,,,				2504	0.0					uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1189-1191)AAT>AGT		MYST histone acetyltransferase (monocytic		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	131.0	119.0	123.0		1190,1190,1190	0.5	1.0	8		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_006766.3,NM_001099413.1,NM_001099412.1	46,46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	397/2005,397/2005,397/2005	41834699	1,13005	2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834699T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1190A>G	8.37:g.41834699T>C	ENSP00000380136:p.Asn397Ser					MYST3_uc010lxc.2_Missense_Mutation_p.N397S|MYST3_uc003xon.3_Missense_Mutation_p.N397S|MYST3_uc010lxd.2_Missense_Mutation_p.N397S	p.N397S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		8	1734	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	397			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1190A>G	CCDS6124.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	t	11.13	1.547574	0.27652	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83250	0.36;0.36;0.36;-1.7	5.37	0.46	0.16684	.	0.477037	0.24003	N	0.042451	T	0.60090	0.2242	N	0.08118	0	0.25846	N	0.983991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44802	-0.9304	10	0.06757	T	0.87	-4.7832	10.1803	0.42963	0.0:0.6681:0.0:0.3318	.	397;397	A5PLL3;Q92794	.;KAT6A_HUMAN	S	397	ENSP00000265713:N397S;ENSP00000385888:N397S;ENSP00000380136:N397S;ENSP00000430606:N397S	ENSP00000265713:N397S	N	-	2	0	KAT6A	41953856	0.997000	0.39634	0.984000	0.44739	0.947000	0.59692	0.943000	0.29030	-0.221000	0.09973	-0.146000	0.13790	AAT		PASS	0.453	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		8	188	8	188	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52366245	52366245	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:52366245G>T	ENST00000356297.4	-	10	1183	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	PXDNL_ENST00000543296.1_Silent_p.I361I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	361	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I361I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGTCCAAGTGATAAGAGGGT	0.507																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1081-1083)ATC>ATA		peroxidasin homolog-like precursor							110.0	110.0	110.0					8																	52366245		2019	4179	6198	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366245G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1083C>A	8.37:g.52366245G>T							p.I361I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1184	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	361			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1083C>A	CCDS47855.1																																																																																				PASS	0.507	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		17	53	17	53	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53573547	53573547	+	Silent	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:53573547T>C	ENST00000025008.5	-	11	2089	c.1566A>G	c.(1564-1566)aaA>aaG	p.K522K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.K522K|RB1CC1_ENST00000435644.2_Silent_p.K522K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	522					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.K522K(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTTTCCATCTTTGACTAAAG	0.289																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(1564-1566)AAA>AAG		Rb1-inducible coiled coil protein 1 isoform 1							65.0	61.0	62.0					8																	53573547		2202	4298	6500	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53573547T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1566A>G	8.37:g.53573547T>C						RB1CC1_uc003xrf.3_Silent_p.K522K	p.K522K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			11	2124	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	522					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1566A>G	CCDS34892.1																																																																																				PASS	0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		17	84	17	84	---	---	---	---
LYPLA1	10434	broad.mit.edu	37	8	54967634	54967634	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:54967634C>G	ENST00000316963.3	-	6	539	c.346G>C	c.(346-348)Gga>Cga	p.G116R	LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G100R	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	116					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.G116R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GAAAACCCTCCCAAAATAATT	0.328																																						uc003xry.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(346-348)GGA>CGA		lysophospholipase 1							62.0	59.0	60.0					8																	54967634		2203	4296	6499	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54967634C>G	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.346G>C	8.37:g.54967634C>G	ENSP00000320043:p.Gly116Arg					LYPLA1_uc011ldx.1_Missense_Mutation_p.G111R|LYPLA1_uc003xrz.2_Missense_Mutation_p.G95R	p.G116R	NM_006330	NP_006321	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		6	540	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	116					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.346G>C	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814306	0.90790	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546;ENST00000521352;ENST00000519926;ENST00000521898	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.23	5.23	0.72850	Phospholipase/carboxylesterase/thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.79652	-0.1714	10	0.87932	D	0	-15.7866	18.774	0.91902	0.0:1.0:0.0:0.0	.	116;100;116	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	R	116;116;100;25;100;52;116;94	ENSP00000320043:G116R;ENSP00000344477:G100R;ENSP00000428729:G100R;ENSP00000428306:G52R;ENSP00000430791:G94R	ENSP00000320043:G116R	G	-	1	0	LYPLA1	55130187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.389000	0.79806	2.602000	0.87976	0.650000	0.86243	GGA		PASS	0.328	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			4	72	4	72	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68087623	68087623	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:68087623G>C	ENST00000262210.5	+	24	3077	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	CSPP1_ENST00000412460.1_Missense_Mutation_p.E671Q|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1051					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E1016Q(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTGCTAAGAGAGCAGCAGAA	0.418																																						uc003xxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(3151-3153)GAG>CAG		centrosome spindle pole associated protein 1							59.0	57.0	58.0					8																	68087623		1895	4118	6013	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68087623G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3046G>C	8.37:g.68087623G>C	ENSP00000262210:p.Glu1016Gln					ARFGEF1_uc003xxl.1_3'UTR|CSPP1_uc003xxj.2_Missense_Mutation_p.E1016Q|CSPP1_uc003xxk.2_Missense_Mutation_p.E671Q|CSPP1_uc010lyw.2_Missense_Mutation_p.E111Q	p.E1051Q	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		26	3182	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1051					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.3151G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013164	0.75161	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.35973	1.28;1.35;1.35	4.8	4.8	0.61643	.	0.075743	0.53938	D	0.000059	T	0.51500	0.1678	L	0.41824	1.3	0.80722	D	1	P;P;D;D	0.89917	0.93;0.942;0.998;1.0	P;P;D;D	0.87578	0.677;0.682;0.957;0.998	T	0.47032	-0.9148	10	0.39692	T	0.17	-14.4974	17.0066	0.86395	0.0:0.0:1.0:0.0	.	174;671;1016;1051	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	Q	1016;1051;671;671	ENSP00000262210:E1016Q;ENSP00000415782:E671Q;ENSP00000430092:E671Q	ENSP00000262210:E1016Q	E	+	1	0	CSPP1	68250177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.692000	0.74578	2.363000	0.80096	0.591000	0.81541	GAG		PASS	0.418	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		23	79	23	79	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480396	73480396	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:73480396C>A	ENST00000523207.1	+	2	1015	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Q143K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGATATCATCAAAAAAAAGA	0.443																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(427-429)CAA>AAA		potassium voltage-gated channel, Shab-related							106.0	112.0	110.0					8																	73480396		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480396C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.427C>A	8.37:g.73480396C>A	ENSP00000430846:p.Gln143Lys						p.Q143K	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1015	+	Breast(64;0.137)		143			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.427C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996487	0.93167	.	.	ENSG00000182674	ENST00000523207	D	0.97404	-4.37	6.07	6.07	0.98685	BTB/POZ-like (1);BTB/POZ fold (1);	0.209065	0.23517	U	0.047338	D	0.98353	0.9453	M	0.86651	2.83	0.80722	D	1	P	0.51933	0.949	P	0.55455	0.776	D	0.98794	1.0737	10	0.72032	D	0.01	.	20.2697	0.98465	0.0:1.0:0.0:0.0	.	143	Q92953	KCNB2_HUMAN	K	143	ENSP00000430846:Q143K	ENSP00000430846:Q143K	Q	+	1	0	KCNB2	73642950	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CAA		PASS	0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	130	4	130	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898313	104898313	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:104898313C>A	ENST00000436393.2	+	2	1061	c.820C>A	c.(820-822)Cca>Aca	p.P274T	RIMS2_ENST00000262231.10_Missense_Mutation_p.P304T|RIMS2_ENST00000406091.3_Missense_Mutation_p.P496T|RIMS2_ENST00000507740.1_Missense_Mutation_p.P304T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	527					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.P304T(2)|p.P496T(1)|p.P274T(1)|p.P532T(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTCCACCACCAAAGCCTCA	0.428										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(820-822)CCA>ACA		regulating synaptic membrane exocytosis 2							56.0	54.0	55.0					8																	104898313		2048	4181	6229	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898313C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.820C>A	8.37:g.104898313C>A	ENSP00000390665:p.Pro274Thr	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P496T|RIMS2_uc003ylw.2_Missense_Mutation_p.P304T|RIMS2_uc003ylq.2_Missense_Mutation_p.P304T|RIMS2_uc003ylr.2_Missense_Mutation_p.P304T	p.P274T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1061	+			527					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.820C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.127134	0.77549	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.23552	1.9;2.35;1.97;1.9;2.02;1.96;2.29	5.54	5.54	0.83059	.	.	.	.	.	T	0.49643	0.1569	L	0.55213	1.73	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.734;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.637;0.997;0.999	T	0.47368	-0.9123	9	0.87932	D	0	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	527;274;304;304;496	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	496;527;496;527;304;304;304;304;274	ENSP00000427018:P496T;ENSP00000384892:P496T;ENSP00000425205:P304T;ENSP00000262231:P304T;ENSP00000423559:P304T;ENSP00000386228:P304T;ENSP00000390665:P274T	ENSP00000262231:P304T	P	+	1	0	RIMS2	104967489	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.963000	0.70372	2.597000	0.87782	0.563000	0.77884	CCA		PASS	0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		13	51	13	51	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113314135	113314135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:113314135G>T	ENST00000297405.5	-	53	8571	c.8327C>A	c.(8326-8328)tCa>tAa	p.S2776*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2607*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2736*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2706*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2776	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2736*(1)|p.S2776*(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						TGAGCCATATGAAGTTTGAGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(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.(8326-8328)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							122.0	123.0	123.0					8																	113314135		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113314135G>T	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.8327C>A	8.37:g.113314135G>T	ENSP00000297405:p.Ser2776*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.S1978*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S2736*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S2607*	p.S2776*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			53	8486	-			2776			Extracellular (Potential).|Sushi 17.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.8327C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	50	17.172891	0.99880	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.62	5.62	0.85841	.	0.087877	0.44097	D	0.000487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	X	2736;2776;2046;2607;2706	.	ENSP00000297405:S2776X	S	-	2	0	CSMD3	113383311	1.000000	0.71417	0.872000	0.34217	0.979000	0.70002	6.545000	0.73883	2.809000	0.96659	0.655000	0.94253	TCA		PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		30	69	30	69	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118184797	118184797	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr8:118184797G>A	ENST00000456015.2	+	8	987	c.987G>A	c.(985-987)gtG>gtA	p.V329V	SLC30A8_ENST00000521243.1_Silent_p.V280V|SLC30A8_ENST00000427715.2_Silent_p.V280V|SLC30A8_ENST00000519688.1_Silent_p.V280V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	329					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.V329V(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACAGCCAAGTGGTTCGGAGAG	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(985-987)GTG>GTA		solute carrier family 30 member 8							100.0	94.0	96.0					8																	118184797		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118184797G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.987G>A	8.37:g.118184797G>A						SLC30A8_uc010mcz.2_Silent_p.V280V|SLC30A8_uc011lia.1_Silent_p.V280V|SLC30A8_uc003yog.2_Silent_p.V280V	p.V329V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		8	1217	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		329			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.987G>A	CCDS6322.1																																																																																				PASS	0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		21	107	21	107	---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22451172	22451172	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr9:22451172G>T	ENST00000325870.2	+	2	1002	c.777G>T	c.(775-777)ggG>ggT	p.G259G		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	259					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G259G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GTGTCATTGGGAAACAAAGTA	0.438																																						uc003zpp.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(775-777)GGG>GGT		DMRT-like family A1							95.0	94.0	94.0					9																	22451172		2203	4300	6503	SO:0001819	synonymous_variant	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451172G>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.777G>T	9.37:g.22451172G>T							p.G259G	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1002	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	259					A1L481|Q8N8Y9|Q9H4B9	Silent	SNP	ENST00000325870.2	37	c.777G>T	CCDS6514.1																																																																																				PASS	0.438	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			21	52	21	52	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101801014	101801014	+	Splice_Site	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr9:101801014C>T	ENST00000375001.3	+	22	2897	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	825	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P825L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGGGGCCTCCGGTTGGTATC	0.468																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2473-2475)CCG>CTG		alpha 1 type XV collagen precursor							160.0	154.0	156.0					9																	101801014		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101801014C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2475+1C>T	9.37:g.101801014C>T							p.P825L	NM_001855	NP_001846	P39059	COFA1_HUMAN			22	2680	+		Acute lymphoblastic leukemia(62;0.0562)	825			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2474C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125420	0.37533	.	.	ENSG00000204291	ENST00000375001	D	0.95980	-3.87	4.79	3.86	0.44501	.	0.330409	0.33834	N	0.004506	D	0.97102	0.9053	M	0.86805	2.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.64776	0.929	D	0.95971	0.8970	10	0.30854	T	0.27	-5.2813	10.2053	0.43109	0.1986:0.8014:0.0:0.0	.	825	P39059	COFA1_HUMAN	L	825	ENSP00000364140:P825L	ENSP00000364140:P825L	P	+	2	0	COL15A1	100840835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.796000	0.38794	1.308000	0.44962	0.655000	0.94253	CCG		PASS	0.468	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Missense_Mutation	27	114	27	114	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119858349	119858349	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr9:119858349T>A	ENST00000313400.4	-	5	1350	c.1250A>T	c.(1249-1251)cAg>cTg	p.Q417L	ASTN2_ENST00000361209.2_Missense_Mutation_p.Q366L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.Q417L|AL354981.1_ENST00000583553.1_RNA			O75129	ASTN2_HUMAN	astrotactin 2	417					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Q366L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTGCGGTACTGCTCCGTGTA	0.512																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1249-1251)CAG>CTG		astrotactin 2 isoform c							134.0	105.0	115.0					9																	119858349		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119858349T>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1250A>T	9.37:g.119858349T>A	ENSP00000314038:p.Gln417Leu					ASTN2_uc004bjr.1_Missense_Mutation_p.Q417L|ASTN2_uc004bjt.1_Missense_Mutation_p.Q366L	p.Q417L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			5	1351	-			417			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1250A>T		.	.	.	.	.	.	.	.	.	.	T	16.96	3.266870	0.59540	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.12774	2.82;2.82;2.65;2.86	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.15003	0.0362	N	0.14661	0.345	0.46028	D	0.998828	P;P;D	0.53885	0.944;0.851;0.963	P;P;P	0.55391	0.546;0.775;0.631	T	0.12502	-1.0545	9	.	.	.	-22.3088	12.4809	0.55842	0.0:0.0:0.0:1.0	.	366;417;417	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	L	417;417;144;366	ENSP00000314038:Q417L;ENSP00000363108:Q417L;ENSP00000363098:Q144L;ENSP00000354504:Q366L	.	Q	-	2	0	ASTN2	118898170	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.485000	0.60279	2.013000	0.59113	0.402000	0.26972	CAG		PASS	0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		9	47	9	47	---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27459686	27459686	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:27459686G>A	ENST00000375940.4	+	8	1855	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.E600K|MASTL_ENST00000342386.6_Missense_Mutation_p.E600K			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.E600K(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTCTTTTGAAGAATCAAA	0.373																																						uc001itm.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(1798-1800)GAA>AAA		microtubule associated serine/threonine							35.0	36.0	35.0					10																	27459686		2203	4299	6502	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459686G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1798G>A	10.37:g.27459686G>A	ENSP00000365107:p.Glu600Lys					MASTL_uc001itl.2_Missense_Mutation_p.E600K|MASTL_uc009xkw.1_Missense_Mutation_p.E600K|MASTL_uc009xkx.1_RNA	p.E600K	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	2437	+			600			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1798G>A	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764682	0.90020	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.24151	1.87;1.87;1.87	5.28	5.28	0.74379	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.163048	0.56097	D	0.000027	T	0.54078	0.1836	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.56032	-0.8046	10	0.62326	D	0.03	-23.7244	19.2823	0.94057	0.0:0.0:1.0:0.0	.	600;600;600	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	K	600	ENSP00000365113:E600K;ENSP00000343446:E600K;ENSP00000365107:E600K	ENSP00000343446:E600K	E	+	1	0	MASTL	27499692	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.493000	0.81493	2.617000	0.88574	0.591000	0.81541	GAA		PASS	0.373	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		14	29	14	29	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43285800	43285800	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:43285800G>T	ENST00000374518.5	+	5	540	c.477G>T	c.(475-477)ggG>ggT	p.G159G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	159	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G159G(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGCTTTGGGTTTGAAATGG	0.398																																						uc001jaj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(475-477)GGG>GGT		BMS1-like, ribosome assembly protein							149.0	148.0	148.0					10																	43285800		2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285800G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.477G>T	10.37:g.43285800G>T							p.G159G	NM_014753	NP_055568	Q14692	BMS1_HUMAN			5	835	+			159					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.477G>T	CCDS7199.1																																																																																				PASS	0.398	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		30	108	30	108	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582958	55582958	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:55582958C>A	ENST00000320301.6	-	33	4922	c.4528G>T	c.(4528-4530)Gca>Tca	p.A1510S	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1512S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1470S|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1487S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1441S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1507S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1510					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1510S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTTTCTTGCAGACTTCAGT	0.373										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4528-4530)GCA>TCA		protocadherin 15 isoform CD1-4 precursor							92.0	93.0	92.0					10																	55582958		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582958C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4528G>T	10.37:g.55582958C>A	ENSP00000322604:p.Ala1510Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1507S|PCDH15_uc010qhw.1_Missense_Mutation_p.A1470S|PCDH15_uc010qhx.1_Missense_Mutation_p.A1441S|PCDH15_uc010qhy.1_Missense_Mutation_p.A1517S|PCDH15_uc010qhz.1_Missense_Mutation_p.A1512S|PCDH15_uc010qia.1_Missense_Mutation_p.A1490S|PCDH15_uc010qib.1_Missense_Mutation_p.A1487S	p.A1510S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	4923	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1510			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4528G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	8.433	0.849036	0.17034	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.62498	0.36;0.33;0.37;0.35;0.35;0.02	5.91	0.607	0.17564	.	.	.	.	.	T	0.46560	0.1399	L	0.42245	1.32	0.26027	N	0.981792	B;B;B;B;B;B;B;B	0.18310	0.011;0.009;0.009;0.009;0.027;0.009;0.011;0.009	B;B;B;B;B;B;B;B	0.19391	0.025;0.016;0.016;0.016;0.016;0.016;0.025;0.016	T	0.34650	-0.9820	9	0.33141	T	0.24	.	1.6615	0.02792	0.1548:0.4219:0.2101:0.2132	.	1487;1510;1512;1517;1441;1470;1507;1510	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	S	1470;1512;1487;1510;1507;1517;1441	ENSP00000378820:A1470S;ENSP00000354950:A1512S;ENSP00000378821:A1487S;ENSP00000322604:A1510S;ENSP00000378818:A1507S;ENSP00000412628:A1441S	ENSP00000322604:A1510S	A	-	1	0	PCDH15	55252964	0.917000	0.31117	0.124000	0.21820	0.221000	0.24807	0.348000	0.20031	-0.143000	0.11334	-0.145000	0.13849	GCA		PASS	0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		79	34	79	34	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55663006	55663006	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:55663006C>A	ENST00000320301.6	-	26	3892	c.3498G>T	c.(3496-3498)gtG>gtT	p.V1166V	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.V1166V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.V1129V|PCDH15_ENST00000395433.1_Silent_p.V1144V|PCDH15_ENST00000414778.1_Silent_p.V1171V|PCDH15_ENST00000395445.1_Silent_p.V1173V|PCDH15_ENST00000437009.1_Silent_p.V1095V|PCDH15_ENST00000409834.1_Silent_p.V777V|PCDH15_ENST00000373965.2_Silent_p.V1173V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1166V|PCDH15_ENST00000395438.1_Silent_p.V1166V|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1166	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V1166V(2)|p.V1171V(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGCATACCTTCACTCTGAGTA	0.363										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3496-3498)GTG>GTT		protocadherin 15 isoform CD1-4 precursor							76.0	71.0	73.0					10																	55663006		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55663006C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3498G>T	10.37:g.55663006C>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.V1171V|PCDH15_uc010qhr.1_Silent_p.V1166V|PCDH15_uc010qhs.1_Silent_p.V1178V|PCDH15_uc010qht.1_Silent_p.V1173V|PCDH15_uc010qhu.1_Silent_p.V1166V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.V1166V|PCDH15_uc010qhw.1_Silent_p.V1129V|PCDH15_uc010qhx.1_Silent_p.V1095V|PCDH15_uc010qhy.1_Silent_p.V1171V|PCDH15_uc010qhz.1_Silent_p.V1166V|PCDH15_uc010qia.1_Silent_p.V1144V|PCDH15_uc010qib.1_Silent_p.V1144V	p.V1166V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			26	3893	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1166			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.3498G>T	CCDS7248.1																																																																																				PASS	0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		35	30	35	30	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55782681	55782681	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:55782681G>T	ENST00000320301.6	-	19	2891	c.2497C>A	c.(2497-2499)Cca>Aca	p.P833T	PCDH15_ENST00000373955.1_Missense_Mutation_p.P833T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P833T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P796T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P811T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P838T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P840T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P762T|PCDH15_ENST00000409834.1_Missense_Mutation_p.P444T|PCDH15_ENST00000373965.2_Missense_Mutation_p.P840T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P833T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P833T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	833	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P838T(2)|p.P833T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCCCAGCTGGCAAATTCTCT	0.398										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2497-2499)CCA>ACA		protocadherin 15 isoform CD1-4 precursor							158.0	143.0	148.0					10																	55782681		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782681G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2497C>A	10.37:g.55782681G>T	ENSP00000322604:p.Pro833Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P838T|PCDH15_uc010qhr.1_Missense_Mutation_p.P833T|PCDH15_uc010qhs.1_Missense_Mutation_p.P845T|PCDH15_uc010qht.1_Missense_Mutation_p.P840T|PCDH15_uc010qhu.1_Missense_Mutation_p.P833T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P833T|PCDH15_uc010qhw.1_Missense_Mutation_p.P796T|PCDH15_uc010qhx.1_Missense_Mutation_p.P762T|PCDH15_uc010qhy.1_Missense_Mutation_p.P838T|PCDH15_uc010qhz.1_Missense_Mutation_p.P833T|PCDH15_uc010qia.1_Missense_Mutation_p.P811T|PCDH15_uc010qib.1_Missense_Mutation_p.P811T|PCDH15_uc001jjw.2_Missense_Mutation_p.P833T	p.P833T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2892	-		Melanoma(3;0.117)|Lung SC(717;0.238)	833			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2497C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107176	0.56291	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.52	5.52	0.82312	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66307	0.2776	M	0.62154	1.92	0.58432	D	0.999999	D;P;D;B;D;D;P;P;P;D;P;D;B;D	0.76494	0.975;0.949;0.996;0.41;0.999;0.975;0.952;0.873;0.952;0.972;0.952;0.992;0.167;0.992	P;P;D;P;D;P;P;P;P;D;P;P;B;D	0.77557	0.876;0.842;0.968;0.475;0.99;0.908;0.792;0.752;0.842;0.909;0.752;0.904;0.196;0.943	T	0.68146	-0.5486	9	0.72032	D	0.01	.	8.741	0.34558	0.0767:0.0:0.7717:0.1516	.	811;833;833;838;762;796;833;833;840;840;833;838;833;833	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	840;838;833;833;444;840;796;833;811;833;833;838;762;833	ENSP00000363076:P840T;ENSP00000410304:P838T;ENSP00000378826:P833T;ENSP00000386693:P444T;ENSP00000378832:P840T;ENSP00000378820:P796T;ENSP00000354950:P833T;ENSP00000378821:P811T;ENSP00000322604:P833T;ENSP00000378818:P833T;ENSP00000412628:P762T;ENSP00000363066:P833T	ENSP00000322604:P833T	P	-	1	0	PCDH15	55452687	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	5.500000	0.66943	2.757000	0.94681	0.585000	0.79938	CCA		PASS	0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	153	5	153	---	---	---	---
DDIT4	54541	broad.mit.edu	37	10	74034084	74034084	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:74034084C>T	ENST00000307365.3	+	2	311	c.110C>T	c.(109-111)gCg>gTg	p.A37V	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	37					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.A37V(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGGGGGTCGGCGACCCGGGAG	0.687																																						uc001jsx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(109-111)GCG>GTG		RTP801							42.0	45.0	44.0					10																	74034084		2203	4298	6501	SO:0001583	missense	54541				apoptosis			g.chr10:74034084C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.110C>T	10.37:g.74034084C>T	ENSP00000307305:p.Ala37Val						p.A37V	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			2	312	+			37					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.110C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067581	0.55539	.	.	ENSG00000168209	ENST00000307365	T	0.43294	0.95	5.33	4.36	0.52297	.	0.281688	0.35646	N	0.003064	T	0.24547	0.0595	N	0.19112	0.55	0.29245	N	0.872382	B	0.27971	0.196	B	0.17098	0.017	T	0.09335	-1.0679	10	0.40728	T	0.16	-10.2225	9.0431	0.36329	0.1321:0.6213:0.2467:0.0	.	37	Q9NX09	DDIT4_HUMAN	V	37	ENSP00000307305:A37V	ENSP00000307305:A37V	A	+	2	0	DDIT4	73704090	0.239000	0.23836	1.000000	0.80357	0.971000	0.66376	0.099000	0.15210	2.652000	0.90054	0.655000	0.94253	GCG		PASS	0.687	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		31	24	31	24	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790711	76790711	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:76790711C>T	ENST00000287239.4	+	18	6618	c.6129C>T	c.(6127-6129)caC>caT	p.H2043H	KAT6B_ENST00000372724.1_Silent_p.H1751H|KAT6B_ENST00000372711.1_Silent_p.H1860H|KAT6B_ENST00000372714.1_Silent_p.H1751H|KAT6B_ENST00000372725.1_Silent_p.H1751H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	2043	Interaction with RUNX1 and RUNX2.|Met-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H2043H(2)									CCCCACCCCACGGTAACATGA	0.532																																						uc001jwn.1										T					CREBBP		AML		2	Substitution - coding silent(2)		lung(1)|prostate(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(6127-6129)CAC>CAT		MYST histone acetyltransferase (monocytic							85.0	80.0	81.0					10																	76790711		2203	4300	6503	SO:0001819	synonymous_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790711C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.6129C>T	10.37:g.76790711C>T						MYST4_uc001jwo.1_Silent_p.H1751H|MYST4_uc001jwp.1_Silent_p.H1860H	p.H2043H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	6622	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		2043			Interaction with RUNX1 and RUNX2.|Met-rich.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	37	c.6129C>T	CCDS7345.1																																																																																				PASS	0.532	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		15	39	15	39	---	---	---	---
LIPJ	142910	broad.mit.edu	37	10	90362337	90362337	+	Missense_Mutation	SNP	G	G	C	rs369591388		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:90362337G>C	ENST00000371939.3	+	9	1042	c.728G>C	c.(727-729)cGt>cCt	p.R243P		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	243					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.R243P(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CCTCAGAGTCGTTTGGATGTG	0.294																																						uc001kff.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)CGT>CCT		lipase, family member J							90.0	85.0	87.0					10																	90362337		2203	4300	6503	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90362337G>C	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.728G>C	10.37:g.90362337G>C	ENSP00000361007:p.Arg243Pro						p.R243P	NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	9	1042	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	243					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.728G>C	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906230	0.52333	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.71579	-0.58;-0.58	4.07	4.07	0.47477	Alpha/beta hydrolase fold-1 (1);	0.000000	0.41396	D	0.000892	D	0.86838	0.6029	M	0.93241	3.395	0.38919	D	0.957707	D	0.60575	0.988	D	0.74023	0.982	D	0.90424	0.4419	10	0.59425	D	0.04	-28.8187	13.6227	0.62146	0.0:0.0:1.0:0.0	.	243	Q5W064	LIPJ_HUMAN	P	243;58	ENSP00000361007:R243P;ENSP00000434211:R58P	ENSP00000361007:R243P	R	+	2	0	LIPJ	90352317	1.000000	0.71417	0.996000	0.52242	0.523000	0.34469	5.089000	0.64492	2.269000	0.75478	0.655000	0.94253	CGT		PASS	0.294	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		37	64	37	64	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98411397	98411397	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:98411397C>T	ENST00000339364.5	-	5	843	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.G64R	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	242	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.G242R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GAAACGTTCCCAGATGAAAGG	0.393																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(724-726)GGG>AGG		phosphoinositide-3-kinase adaptor protein 1							60.0	58.0	59.0					10																	98411397		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411397C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.724G>A	10.37:g.98411397C>T	ENSP00000339826:p.Gly242Arg					PIK3AP1_uc001kmp.2_Missense_Mutation_p.G64R	p.G242R	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	5	852	-		Colorectal(252;0.0442)	242			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.724G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967704	0.92855	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.23950	2.6;1.88	5.76	5.76	0.90799	DBB domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53308	-0.8457	10	0.59425	D	0.04	-35.3398	18.9506	0.92640	0.0:1.0:0.0:0.0	.	242	Q6ZUJ8	BCAP_HUMAN	R	242;64	ENSP00000339826:G242R;ENSP00000360151:G64R	ENSP00000339826:G242R	G	-	1	0	PIK3AP1	98401387	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.376000	0.79658	2.733000	0.93635	0.555000	0.69702	GGG		PASS	0.393	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		11	21	11	21	---	---	---	---
USMG5	84833	broad.mit.edu	37	10	105154076	105154076	+	5'UTR	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:105154076G>T	ENST00000369825.1	-	0	353				USMG5_ENST00000369815.1_Intron|USMG5_ENST00000369811.1_Intron|MIR1307_ENST00000408840.1_RNA|USMG5_ENST00000337003.4_5'UTR|PDCD11_ENST00000369797.3_5'Flank|USMG5_ENST00000309579.3_Intron			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		ACGCCACGCCGAGTCGATTGG	0.498																																						hsa-mir-1307|MI0006444																			0					0															110.0	103.0	106.0					10																	105154076		1568	3582	5150	SO:0001623	5_prime_UTR_variant	100302174							g.chr10:105154076G>T	BC007087	CCDS7548.1	10q24.33	2011-04-13	2008-06-05		ENSG00000173915	ENSG00000173915			30889	protein-coding gene	gene with protein product		615204	"""upregulated during skeletal muscle growth 5"", ""upregulated during skeletal muscle growth 5 homolog (mouse)"""			12477932	Standard	NM_032747		Approved	MGC14697, bA792D24.4, DAPIT	uc001kwx.2	Q96IX5	OTTHUMG00000018984	ENST00000369825.1:c.-130C>A	10.37:g.105154076G>T						USMG5_uc001kww.1_5'UTR|USMG5_uc001kwx.1_Intron|PDCD11_uc001kwy.1_5'Flank										-								B2R4N2|D3DR92	RNA	SNP	ENST00000369825.1	37	c.83G>T	CCDS7548.1																																																																																				PASS	0.498	USMG5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050142.1	NM_032747		3	63	3	63	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369680.4_Silent_p.C502C|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369683.1_Silent_p.C431C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						uc001kyp.1																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(1)	4						c.(1504-1506)TGC>TGT		X-prolyl aminopeptidase (aminopeptidase P) 1,							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A						XPNPEP1_uc009xxt.1_Silent_p.C521C|XPNPEP1_uc001kyq.1_Silent_p.C431C	p.C502C	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1646	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1506C>T	CCDS7560.2																																																																																				PASS	0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			4	174	4	174	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396324	118396324	+	RNA	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:118396324G>C	ENST00000298771.7	+	0	990				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.G322A(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCAGCTGAAGGATGCCCCAAA	0.408																																						uc001lcq.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(967-969)GGA>GCA		pancreatic lipase-related protein 2							99.0	89.0	92.0					10																	118396324		1841	4085	5926			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396324G>C	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396324G>C						PNLIPRP2_uc009xyv.1_RNA	p.G323A	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	12	991	+			322					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.968G>C		.	.	.	.	.	.	.	.	.	.	G	9.547	1.114970	0.20795	.	.	ENSG00000165862	ENST00000537242	D	0.90444	-2.67	5.08	5.08	0.68730	Lipase, N-terminal (1);	0.000000	0.53938	U	0.000050	D	0.87958	0.6309	.	.	.	0.33719	D	0.616736	B	0.27932	0.194	B	0.28385	0.089	D	0.88832	0.3306	9	0.39692	T	0.17	.	18.429	0.90618	0.0:0.0:1.0:0.0	.	322	P54317	LIPR2_HUMAN	A	322	ENSP00000446346:G322A	ENSP00000446346:G322A	G	+	2	0	PNLIPRP2	118386314	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.969000	0.63735	2.526000	0.85167	0.462000	0.41574	GGA		PASS	0.408	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		8	4	8	4	---	---	---	---
MCMBP	79892	broad.mit.edu	37	10	121596523	121596523	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr10:121596523G>T	ENST00000360003.3	-	13	1602	c.1433C>A	c.(1432-1434)gCc>gAc	p.A478D	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.A476D	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	478					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.A478D(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GTTGCTCAGGGCTGTCACATT	0.428																																						uc001ler.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1432-1434)GCC>GAC		chromosome 10 open reading frame 119							152.0	126.0	134.0					10																	121596523		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121596523G>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1433C>A	10.37:g.121596523G>T	ENSP00000353098:p.Ala478Asp					C10orf119_uc001leq.1_Missense_Mutation_p.A303D|C10orf119_uc001les.1_Missense_Mutation_p.A303D	p.A478D	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	13	1731	-		Lung NSC(174;0.109)|all_lung(145;0.142)	478					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1433C>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223371	0.79464	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.86293	0.1675	9	0.54805	T	0.06	-16.4957	18.9133	0.92494	0.0:0.0:1.0:0.0	.	478	Q9BTE3	MCMBP_HUMAN	D	478;476	.	ENSP00000353098:A478D	A	-	2	0	MCMBP	121586513	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.793000	0.99091	2.474000	0.83562	0.655000	0.94253	GCC		PASS	0.428	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		4	80	4	80	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808182	14808182	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:14808182G>T	ENST00000282096.4	+	3	1582	c.1229G>T	c.(1228-1230)tGt>tTt	p.C410F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	410					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.C410F(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TTTTACCCCTGTTCTGAAATA	0.378																																						uc001mln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)TGT>TTT		phosphodiesterase 3B							127.0	137.0	133.0					11																	14808182		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808182G>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1229G>T	11.37:g.14808182G>T	ENSP00000282096:p.Cys410Phe					PDE3B_uc010rcr.1_Intron	p.C410F	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			3	1582	+			410					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1229G>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	g	17.76	3.468060	0.63625	.	.	ENSG00000152270	ENST00000282096	T	0.33654	1.4	5.72	3.83	0.44106	.	2.773080	0.00868	N	0.001995	T	0.63414	0.2509	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.17289	-1.0374	10	0.87932	D	0	.	8.5272	0.33313	0.1379:0.1279:0.7342:0.0	.	410	Q13370	PDE3B_HUMAN	F	410	ENSP00000282096:C410F	ENSP00000282096:C410F	C	+	2	0	PDE3B	14764758	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.039000	0.76544	0.750000	0.32877	0.558000	0.71614	TGT		PASS	0.378	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		74	70	74	70	---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28058072	28058072	+	Silent	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:28058072A>G	ENST00000263181.6	-	14	2378	c.2088T>C	c.(2086-2088)ctT>ctC	p.L696L		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	696					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.L696L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTTCTTTGCTAAGAGAATCAT	0.378																																						uc001msc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2086-2088)CTT>CTC		kinesin family member 18A							94.0	95.0	95.0					11																	28058072		2202	4297	6499	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058072A>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2088T>C	11.37:g.28058072A>G							p.L696L	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			14	2270	-			696					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2088T>C	CCDS7867.1																																																																																				PASS	0.378	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		26	106	26	106	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47830025	47830025	+	Silent	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:47830025T>C	ENST00000378460.2	-	18	2344	c.2298A>G	c.(2296-2298)acA>acG	p.T766T	NUP160_ENST00000528071.1_Silent_p.T652T|NUP160_ENST00000530326.1_Silent_p.T652T	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	766					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.T766T(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTAGGGGAGCTGTTCGATGTA	0.418																																						uc001ngm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2296-2298)ACA>ACG		nucleoporin 160kDa							114.0	99.0	104.0					11																	47830025		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47830025T>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2298A>G	11.37:g.47830025T>C						NUP160_uc009ylw.2_RNA	p.T766T	NM_015231	NP_056046	Q12769	NU160_HUMAN			18	2383	-			766					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.2298A>G	CCDS31484.1																																																																																				PASS	0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		45	27	45	27	---	---	---	---
SLC15A3	51296	broad.mit.edu	37	11	60707042	60707042	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:60707042C>A	ENST00000227880.3	-	6	1578	c.1345G>T	c.(1345-1347)Gtc>Ttc	p.V449F		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	449					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.V449F(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TTGTACAGGACCTCCCCAATC	0.567																																						uc001nqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1345-1347)GTC>TTC		solute carrier family 15, member 3							165.0	105.0	125.0					11																	60707042		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60707042C>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1345G>T	11.37:g.60707042C>A	ENSP00000227880:p.Val449Phe					SLC15A3_uc001nqo.2_Missense_Mutation_p.R392S	p.V449F	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			6	1579	-			449					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1345G>T	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.872884|2.872884	0.51695|0.51695	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000537307|ENST00000227880	.|T	.|0.04194	.|3.68	4.62|4.62	-0.97|-0.97	0.10306|0.10306	.|Major facilitator superfamily domain, general substrate transporter (1);	.|1.084450	.|0.07012	.|N	.|0.825306	T|T	0.05181|0.05181	0.0138|0.0138	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	B|P	0.16802|0.43938	0.019|0.822	B|P	0.15484|0.45195	0.013|0.473	T|T	0.38265|0.38265	-0.9669|-0.9669	7|10	.|0.09338	.|T	.|0.73	-9.9459|-9.9459	7.9063|7.9063	0.29763|0.29763	0.1178:0.7065:0.0:0.1757|0.1178:0.7065:0.0:0.1757	.|.	392|449	F5H1C8|Q8IY34	.|S15A3_HUMAN	S|F	114|449	.|ENSP00000227880:V449F	.|ENSP00000227880:V449F	R|V	-|-	3|1	2|0	SLC15A3|SLC15A3	60463618|60463618	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.742000|0.742000	0.42306|0.42306	1.505000|1.505000	0.35736|0.35736	-0.260000|-0.260000	0.09418|0.09418	-0.310000|-0.310000	0.09108|0.09108	AGG|GTC		PASS	0.567	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		8	40	8	40	---	---	---	---
RAB6A	5870	broad.mit.edu	37	11	73389000	73389000	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:73389000G>A	ENST00000336083.3	-	8	1025	c.570C>T	c.(568-570)gaC>gaT	p.D190D	RAB6A_ENST00000536566.1_Silent_p.D157D|RAB6A_ENST00000541588.1_Silent_p.D86D|RAB6A_ENST00000310653.6_Silent_p.D190D	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	190					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)	p.D190D(2)		large_intestine(2)|lung(2)	4						CCAGTTTTATGTCAATCACTG	0.408																																						uc001oue.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(568-570)GAC>GAT		RAB6A, member RAS oncogene family isoform a							98.0	94.0	95.0					11																	73389000		2200	4293	6493	SO:0001819	synonymous_variant	5870				minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding	g.chr11:73389000G>A	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.570C>T	11.37:g.73389000G>A						RAB6A_uc001ouf.2_Silent_p.D190D|RAB6A_uc009yts.2_Silent_p.D86D	p.D190D	NM_002869	NP_002860	P20340	RAB6A_HUMAN			8	1091	-			190					A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Silent	SNP	ENST00000336083.3	37	c.570C>T	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018300	0.19355	.	.	ENSG00000175582	ENST00000541973	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	T	0.73745	0.3626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71649	-0.4529	4	.	.	.	-3.8192	16.9708	0.86298	0.0:0.0:1.0:0.0	.	.	.	.	I	183	.	.	T	-	2	0	RAB6A	73066648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.449000	0.60034	2.687000	0.91594	0.650000	0.86243	ACA		PASS	0.408	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			29	35	29	35	---	---	---	---
OMP	4975	broad.mit.edu	37	11	76814207	76814207	+	Missense_Mutation	SNP	C	C	T	rs370927367		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:76814207C>T	ENST00000529803.1	+	1	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	108					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R108C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CATCTTCTGGCGCAAGGAGGA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17512	0.0		0.001	False		,,,				2504	0.0					uc010rsk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)CGC>TGC		olfactory marker protein		C	,CYS/ARG	0,4248		0,0,2124	50.0	58.0	56.0		,322	3.3	1.0	11		56	1,8433		0,1,4216	no	intron,missense	CAPN5,OMP	NM_004055.4,NM_006189.1	,180	0,1,6340	TT,TC,CC		0.0119,0.0,0.0079	,probably-damaging	,108/164	76814207	1,12681	2124	4217	6341	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814207C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.322C>T	11.37:g.76814207C>T	ENSP00000436376:p.Arg108Cys					CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.R108C	NM_006189	NP_006180	P47874	OMP_HUMAN			1	322	+			108					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.322C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063405	0.76187	0.0	1.19E-4	ENSG00000254550	ENST00000529803	T	0.37915	1.17	5.29	3.27	0.37495	.	.	.	.	.	T	0.41811	0.1175	L	0.27053	0.805	0.58432	D	0.999992	D	0.67145	0.996	D	0.63957	0.92	T	0.38735	-0.9647	9	0.87932	D	0	.	10.7356	0.46122	0.4456:0.5544:0.0:0.0	.	108	P47874	OMP_HUMAN	C	108	ENSP00000436376:R108C	ENSP00000436376:R108C	R	+	1	0	OMP	76491855	0.394000	0.25246	1.000000	0.80357	0.993000	0.82548	0.706000	0.25690	1.455000	0.47813	0.462000	0.41574	CGC		PASS	0.612	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		9	45	9	45	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86662462	86662462	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:86662462C>G	ENST00000531380.1	-	2	1641	c.1336G>C	c.(1336-1338)Gtt>Ctt	p.V446L	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	446					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V446L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTGCAGGAACTGTGTACAGT	0.403																																						uc001pce.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1336-1338)GTT>CTT		frizzled 4 precursor							173.0	154.0	160.0					11																	86662462		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662462C>G	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1336G>C	11.37:g.86662462C>G	ENSP00000434034:p.Val446Leu					PRSS23_uc001pcc.1_RNA	p.V446L	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	1642	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	446			Helical; Name=6; (Potential).		A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1336G>C	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032432	0.75504	.	.	ENSG00000174804	ENST00000531380	D	0.84370	-1.84	5.77	5.77	0.91146	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	M	0.64170	1.965	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.89696	0.3901	9	.	.	.	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	446	Q9ULV1	FZD4_HUMAN	L	446	ENSP00000434034:V446L	.	V	-	1	0	FZD4	86340110	1.000000	0.71417	0.945000	0.38365	0.877000	0.50540	7.757000	0.85209	2.744000	0.94065	0.561000	0.74099	GTT		PASS	0.403	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		11	145	11	145	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102742661	102742661	+	RNA	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:102742661G>T	ENST00000532855.1	-	0	468							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D124E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CACGGTTCATGTCAGGTGTGT	0.388																																						uc001phk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GAC>GAA		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						65.0	63.0	64.0					11																	102742661		1911	4138	6049			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742661G>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742661G>T							p.D124E	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	3	417	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	124				Calcium 1.	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.372C>A																																																																																					PASS	0.388	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		6	39	6	39	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382994	108382994	+	Silent	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:108382994T>C	ENST00000265843.4	-	6	3350	c.3240A>G	c.(3238-3240)gaA>gaG	p.E1080E	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.E1004E|EXPH5_ENST00000443411.1_Silent_p.E892E|EXPH5_ENST00000525344.1_Silent_p.E1073E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1080					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.E1080E(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTTGGAACATTCATTCGCTG	0.428																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(3238-3240)GAA>GAG		exophilin 5 isoform a							108.0	109.0	109.0					11																	108382994		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382994T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3240A>G	11.37:g.108382994T>C						EXPH5_uc010rvy.1_Silent_p.E892E|EXPH5_uc010rvz.1_Silent_p.E924E|EXPH5_uc010rwa.1_Silent_p.E1004E	p.E1080E	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3351	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1080					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.3240A>G	CCDS8341.1																																																																																				PASS	0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		22	107	22	107	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113651059	113651059	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr11:113651059T>A	ENST00000453129.2	+	1	591	c.542T>A	c.(541-543)cTa>cAa	p.L181Q		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L181Q(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTTGGTGGGCTACTCCTCATC	0.557																																						uc009yyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CTA>CAA		claudin 25							84.0	88.0	87.0					11																	113651059		2014	4180	6194	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113651059T>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.542T>A	11.37:g.113651059T>A	ENSP00000396304:p.Leu181Gln						p.L181Q	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	542	+			181			Helical; (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.542T>A	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	T	9.259	1.042842	0.19748	.	.	ENSG00000228607	ENST00000453129	D	0.89617	-2.54	4.98	2.66	0.31614	.	.	.	.	.	D	0.91136	0.7209	M	0.74881	2.28	0.09310	N	1	D	0.54397	0.966	P	0.58331	0.837	T	0.81680	-0.0823	9	0.59425	D	0.04	.	4.5282	0.11992	0.0:0.1701:0.1681:0.6618	.	181	C9JDP6	CLD25_HUMAN	Q	181	ENSP00000396304:L181Q	ENSP00000396304:L181Q	L	+	2	0	CLDN25	113156269	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.393000	0.20817	0.381000	0.24851	0.523000	0.50628	CTA		PASS	0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		29	53	29	53	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6947151	6947151	+	5'Flank	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:6947151A>G	ENST00000229264.3	+	0	0				GNB3_ENST00000435982.2_5'Flank|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.Q619R(1)|p.Q435R(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GATGACTTCCAGGGTGGGGAC	0.627																																						uc001qra.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1858-1860)CAG>CGG		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						35.0	39.0	38.0					12																	6947151		2069	4227	6296	SO:0001631	upstream_gene_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6947151A>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6947151A>G	Exception_encountered					LEPREL2_uc001qqz.1_Missense_Mutation_p.Q427R|LEPREL2_uc001qrb.1_Missense_Mutation_p.Q427R|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank|GNB3_uc009zfe.2_5'Flank	p.Q620R	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			15	1893	+			620			Fe2OG dioxygenase.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1859A>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555187	0.45487	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	T;T	0.53857	0.6;0.6	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.439525	0.26341	N	0.024931	T	0.40839	0.1133	.	.	.	0.22511	N	0.999039	B	0.13145	0.007	B	0.15052	0.012	T	0.32561	-0.9902	9	0.48119	T	0.1	-26.9915	10.4782	0.44678	0.921:0.0:0.079:0.0	.	620	Q8IVL6	P3H3_HUMAN	R	47;619;435	ENSP00000379951:Q619R;ENSP00000290510:Q435R	ENSP00000290510:Q435R	Q	+	2	0	LEPREL2	6817412	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	3.294000	0.51787	1.971000	0.57363	0.459000	0.35465	CAG		PASS	0.627	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		7	13	7	13	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7593778	7593778	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:7593778C>T	ENST00000313599.3	-	2	153	c.96G>A	c.(94-96)ctG>ctA	p.L32L	CD163L1_ENST00000416109.2_Silent_p.L32L|CD163L1_ENST00000396630.1_Silent_p.L32L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	32						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L32L(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						AGCAGGAATTCAGGAGCAGGA	0.413																																						uc001qsy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(94-96)CTG>CTA		scavenger receptor cysteine-rich type 1							171.0	169.0	170.0					12																	7593778		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7593778C>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.96G>A	12.37:g.7593778C>T						CD163L1_uc010sge.1_Silent_p.L32L	p.L32L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			2	122	-			32					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.96G>A	CCDS8577.1																																																																																				PASS	0.413	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		74	114	74	114	---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57867924	57867924	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:57867924C>T	ENST00000356411.2	-	16	2014	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D607N|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D686N|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D607N|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D423N|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.D697N			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	626	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.D626N(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACATGAATGTCATCCCACTCA	0.552																																						uc001sod.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2089-2091)GAC>AAC		Rho GTPase activating protein 9 isoform 1							49.0	52.0	51.0					12																	57867924		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867924C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1876G>A	12.37:g.57867924C>T	ENSP00000348782:p.Asp626Asn					ARHGAP9_uc001sny.2_Intron|ARHGAP9_uc001snz.2_Missense_Mutation_p.D423N|ARHGAP9_uc001soa.2_Missense_Mutation_p.D296N|ARHGAP9_uc001sob.2_Missense_Mutation_p.D607N|ARHGAP9_uc001soc.2_Missense_Mutation_p.D607N|ARHGAP9_uc001soe.1_Missense_Mutation_p.D686N	p.D697N	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		19	2282	-			626			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2089G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.603222	0.96614	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.52526	0.66;0.66;2.49;0.66;0.66;2.49	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.997;0.998;1.0;1.0	T	0.67260	-0.5715	10	0.87932	D	0	.	17.5532	0.87882	0.0:1.0:0.0:0.0	.	686;626;607;607;423	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	N	607;626;607;697;656;423;96	ENSP00000377380:D607N;ENSP00000348782:D626N;ENSP00000394307:D607N;ENSP00000377386:D697N;ENSP00000397950:D423N;ENSP00000448423:D96N	ENSP00000344852:D656N	D	-	1	0	ARHGAP9	56154191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.855000	0.75445	2.769000	0.95229	0.655000	0.94253	GAC		PASS	0.552	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		12	47	12	47	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233474	69233474	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:69233474T>A	ENST00000350057.5	+	9	1246	c.1246T>A	c.(1246-1248)Tgt>Agt	p.C416S	MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000540827.1_Missense_Mutation_p.C246S|MDM2_ENST00000428863.2_Missense_Mutation_p.C220S|MDM2_ENST00000356290.4_Missense_Mutation_p.C271S|MDM2_ENST00000393410.1_Missense_Mutation_p.C193S|MDM2_ENST00000360430.2_Missense_Mutation_p.C246S|MDM2_ENST00000517852.1_Missense_Mutation_p.C80S|MDM2_ENST00000299252.4_Missense_Mutation_p.C271S|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393413.3_Missense_Mutation_p.C168S|MDM2_ENST00000348801.2_Missense_Mutation_p.C215S|MDM2_ENST00000462284.1_Missense_Mutation_p.C447S|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.C392S|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000258149.5_Missense_Mutation_p.C386S|MDM2_ENST00000393412.3_Missense_Mutation_p.C168S			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	441	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C447S(1)|p.C441S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTGTGTGATTTGTCAAGGTCG	0.413			A		"""sarcoma, glioma, colorectal, other"""																																	uc001sui.2				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(1339-1341)TGT>AGT		mouse double minute 2 homolog isoform MDM2							138.0	132.0	134.0					12																	69233474		1918	4136	6054	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233474T>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.1246T>A	12.37:g.69233474T>A	ENSP00000266624:p.Cys416Ser					MDM2_uc009zri.2_Missense_Mutation_p.C402S|MDM2_uc009zqx.2_Missense_Mutation_p.C392S|MDM2_uc009zqw.2_3'UTR|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Missense_Mutation_p.C266S|MDM2_uc009zqz.2_Missense_Mutation_p.C394S|MDM2_uc009zra.2_Missense_Mutation_p.C245S|MDM2_uc001sum.1_Missense_Mutation_p.C75S|MDM2_uc009zrd.2_Missense_Mutation_p.C131S|MDM2_uc009zrc.2_Missense_Mutation_p.C131S|MDM2_uc009zre.2_Missense_Mutation_p.C188S|MDM2_uc009zrf.2_Missense_Mutation_p.C131S|MDM2_uc001suo.2_Missense_Mutation_p.C241S|MDM2_uc009zrg.2_Missense_Mutation_p.C163S|MDM2_uc009zrh.2_Missense_Mutation_p.C215S	p.C447S	NM_002392	NP_002383	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1626	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		441	C->G: Fails to interact with MDM4.		Necessary for interaction with USP2.|RING-type.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.1339T>A		.	.	.	.	.	.	.	.	.	.	T	20.2	3.954581	0.73902	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	5.36	5.36	0.76844	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	H	0.97940	4.11	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.994;1.0;0.999;0.997;0.997	D	0.99533	1.0961	9	.	.	.	-20.2769	15.6671	0.77238	0.0:0.0:0.0:1.0	.	396;220;168;193;271;441;392;246;80;447	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q9H4C3;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.;.	S	447;396;386;271;246;220;168;402;392;168;416;193;271;246;80;215	ENSP00000417281:C447S;ENSP00000258149:C386S;ENSP00000348637:C271S;ENSP00000440932:C246S;ENSP00000410694:C220S;ENSP00000377064:C168S;ENSP00000258148:C392S;ENSP00000377065:C168S;ENSP00000266624:C416S;ENSP00000377062:C193S;ENSP00000299252:C271S;ENSP00000353611:C246S;ENSP00000430257:C80S;ENSP00000335096:C215S	.	C	+	1	0	MDM2	67519741	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.512000	0.81728	2.157000	0.67596	0.533000	0.62120	TGT		PASS	0.413	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		25	178	25	178	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94690982	94690982	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:94690982G>A	ENST00000258526.4	+	25	4201	c.3952G>A	c.(3952-3954)Gac>Aac	p.D1318N	PLXNC1_ENST00000545312.1_Missense_Mutation_p.D57N|PLXNC1_ENST00000547057.1_Missense_Mutation_p.D365N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1318					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.D1318N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTACTCGGATGACCACTGCCA	0.493																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3952-3954)GAC>AAC		plexin C1 precursor							200.0	173.0	182.0					12																	94690982		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94690982G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3952G>A	12.37:g.94690982G>A	ENSP00000258526:p.Asp1318Asn					PLXNC1_uc010sut.1_Missense_Mutation_p.D365N|PLXNC1_uc009zsv.2_Missense_Mutation_p.D57N	p.D1318N	NM_005761	NP_005752	O60486	PLXC1_HUMAN			25	4201	+			1318			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3952G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810670	0.16537	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11604	2.76;2.76;2.76	4.73	3.81	0.43845	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.288763	0.39210	N	0.001439	T	0.06188	0.0160	N	0.08118	0	0.27141	N	0.961659	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.24048	-1.0171	10	0.56958	D	0.05	.	12.0751	0.53638	0.0859:0.0:0.9141:0.0	.	365;1318	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1318;365;57	ENSP00000258526:D1318N;ENSP00000446720:D365N;ENSP00000439225:D57N	ENSP00000258526:D1318N	D	+	1	0	PLXNC1	93215113	0.988000	0.35896	0.918000	0.36340	0.489000	0.33432	2.947000	0.49058	2.337000	0.79520	0.462000	0.41574	GAC		PASS	0.493	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			21	143	21	143	---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124130034	124130034	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:124130034G>C	ENST00000543341.2	+	3	157	c.126G>C	c.(124-126)atG>atC	p.M42I	GTF2H3_ENST00000228955.7_Start_Codon_SNP_p.M1I	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	42					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)	p.M42I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATGCCGTGATGGTGCTGGGAA	0.363								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	uc001ufo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)ATG>ATC	NER	general transcription factor IIH, polypeptide 3,							152.0	128.0	136.0					12																	124130034		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124130034G>C	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.126G>C	12.37:g.124130034G>C	ENSP00000445162:p.Met42Ile					GTF2H3_uc010tau.1_Missense_Mutation_p.M1I	p.M42I	NM_001516	NP_001507	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	3	152	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		42					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.126G>C	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867525	0.32977	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000536375;ENST00000538533	.	.	.	5.84	5.84	0.93424	.	0.040551	0.85682	D	0.000000	T	0.37919	0.1021	N	0.05230	-0.09	0.52501	D	0.99995	B	0.20780	0.048	B	0.18871	0.023	T	0.30416	-0.9979	9	0.87932	D	0	.	13.3589	0.60644	0.0726:0.0:0.9274:0.0	.	42	Q13889	TF2H3_HUMAN	I	32;57;1;42;42;1	.	ENSP00000228955:M1I	M	+	3	0	GTF2H3	122695987	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.565000	0.73974	2.927000	0.99377	0.637000	0.83480	ATG		PASS	0.363	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		39	18	39	18	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132551372	132551372	+	Silent	SNP	A	A	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr12:132551372A>C	ENST00000333577.4	+	50	8824	c.8715A>C	c.(8713-8715)gcA>gcC	p.A2905A	EP400_ENST00000332482.4_Silent_p.A2832A|EP400_ENST00000330386.6_Silent_p.A2788A|EP400_ENST00000389561.2_Silent_p.A2869A|EP400_ENST00000389562.2_Silent_p.A2868A			Q96L91	EP400_HUMAN	E1A binding protein p400	2905					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A2868A(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGACCCAGGCACCCCAGCCAG	0.622																																						uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8605-8607)GCA>GCC		E1A binding protein p400							45.0	51.0	49.0					12																	132551372		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551372A>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8715A>C	12.37:g.132551372A>C						EP400_uc001ujl.2_Silent_p.A2868A|EP400_uc001ujm.2_Silent_p.A2788A|EP400_uc001ujp.2_Silent_p.A79A	p.A2869A	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8642	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2905					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8607A>C																																																																																					PASS	0.622	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	45	9	45	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19751624	19751624	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr13:19751624G>T	ENST00000400113.3	-	4	603	c.499C>A	c.(499-501)Cta>Ata	p.L167I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	167					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L167I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAAATTCTAGCTTGGACTTC	0.577																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(499-501)CTA>ATA		tubulin, alpha 3c							127.0	130.0	129.0					13																	19751624		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751624G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.499C>A	13.37:g.19751624G>T	ENSP00000382982:p.Leu167Ile						p.L167I	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	548	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	167					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.499C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.273	1.046227	0.19748	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.39407	U	0.001365	T	0.70193	0.3196	.	.	.	0.39123	D	0.961693	.	.	.	.	.	.	T	0.73297	-0.4027	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	I	167	ENSP00000382982:L167I	ENSP00000354037:L167I	L	-	1	2	TUBA3C	18649624	1.000000	0.71417	0.995000	0.50966	0.218000	0.24690	6.165000	0.71891	0.966000	0.38159	0.162000	0.16502	CTA		PASS	0.577	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		23	115	23	115	---	---	---	---
KCNRG	283518	broad.mit.edu	37	13	50589841	50589841	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr13:50589841T>C	ENST00000312942.1	+	1	452	c.212T>C	c.(211-213)tTa>tCa	p.L71S	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.L71S	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	71	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.L71S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CACCAGCTTTTATTACCCACT	0.383																																						uc001vdu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)TTA>TCA		potassium channel regulator isoform 1							134.0	139.0	137.0					13																	50589841		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50589841T>C		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.212T>C	13.37:g.50589841T>C	ENSP00000324191:p.Leu71Ser					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.L71S|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.L71S	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	1	452	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	71			BTB.		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.212T>C	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	T	9.604	1.129396	0.21041	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	D;D	0.82255	-1.59;-1.59	5.74	3.27	0.37495	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.398388	0.23500	N	0.047504	T	0.57286	0.2043	N	0.03930	-0.32	0.25036	N	0.991236	B;B	0.20887	0.003;0.049	B;B	0.15870	0.014;0.013	T	0.43972	-0.9358	10	0.11182	T	0.66	.	5.8266	0.18556	0.0:0.5293:0.0:0.4707	.	71;71	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	S	71	ENSP00000353661:L71S;ENSP00000324191:L71S	ENSP00000324191:L71S	L	+	2	0	KCNRG	49487842	0.984000	0.35163	0.919000	0.36401	0.994000	0.84299	3.002000	0.49496	0.462000	0.27095	0.533000	0.62120	TTA		PASS	0.383	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			15	109	15	109	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581289	77581289	+	Silent	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr13:77581289G>C	ENST00000355619.5	-	5	1602	c.1278C>G	c.(1276-1278)ccC>ccG	p.P426P	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	426					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.P426P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTTACCAAGTGGGCATCATGT	0.358																																						uc001vkd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1276-1278)CCC>CCG		F-box and leucine-rich repeat protein 3							70.0	68.0	69.0					13																	77581289		2203	4300	6503	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581289G>C	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.1278C>G	13.37:g.77581289G>C							p.P426P	NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1649	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	426					B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.1278C>G	CCDS9457.1																																																																																				PASS	0.358	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			14	66	14	66	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77714292	77714292	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr13:77714292T>G	ENST00000544440.2	-	51	7311	c.7294A>C	c.(7294-7296)Aaa>Caa	p.K2432Q	MYCBP2_ENST00000407578.2_Missense_Mutation_p.K2470Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K2432Q|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.K2432Q(2)|p.K2470Q(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)		GCCACAAATTTTCGAACCTGA	0.423																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7294-7296)AAA>CAA		MYC binding protein 2							61.0	59.0	60.0					13																	77714292		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77714292T>G	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.7294A>C	13.37:g.77714292T>G	ENSP00000444596:p.Lys2432Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.K1836Q	p.K2432Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	52	7385	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2432						Missense_Mutation	SNP	ENST00000544440.2	37	c.7294A>C		.	.	.	.	.	.	.	.	.	.	T	18.37	3.609953	0.66558	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31510	1.49;1.49;1.49	5.69	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.38838	1.175	0.46774	D	0.999195	B	0.02656	0.0	B	0.04013	0.001	T	0.04128	-1.0975	10	0.36615	T	0.2	.	12.4833	0.55856	0.0:0.0:0.1395:0.8605	.	2432	O75592	MYCB2_HUMAN	Q	2432;2470;2432	ENSP00000349892:K2432Q;ENSP00000384288:K2470Q;ENSP00000444596:K2432Q	ENSP00000349892:K2432Q	K	-	1	0	MYCBP2	76612293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.791000	0.62460	2.159000	0.67721	0.528000	0.53228	AAA		PASS	0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		11	21	11	21	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612106	20612106	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:20612106C>G	ENST00000333629.1	+	1	212	c.212C>G	c.(211-213)gCa>gGa	p.A71G	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A71G(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTACTGGATGCATCCTACTCC	0.473																																						uc010tla.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)GCA>GGA		olfactory receptor, family 4, subfamily N,							177.0	179.0	178.0					14																	20612106		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612106C>G		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.212C>G	14.37:g.20612106C>G	ENSP00000332110:p.Ala71Gly						p.A71G	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	212	+	all_cancers(95;0.00108)		71			Helical; Name=2; (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.212C>G	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685403	0.29872	.	.	ENSG00000184394	ENST00000333629	T	0.03065	4.06	3.99	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.339406	0.21247	N	0.077707	T	0.03136	0.0092	L	0.37800	1.135	0.09310	N	1	P	0.38335	0.627	B	0.37144	0.242	T	0.40175	-0.9577	10	0.62326	D	0.03	.	4.8206	0.13389	0.1752:0.6219:0.0:0.2029	.	71	Q8IXE1	OR4N5_HUMAN	G	71	ENSP00000332110:A71G	ENSP00000332110:A71G	A	+	2	0	OR4N5	19681946	0.086000	0.21541	0.991000	0.47740	0.897000	0.52465	3.114000	0.50383	0.432000	0.26286	0.650000	0.86243	GCA		PASS	0.473	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			43	223	43	223	---	---	---	---
SFTA3	253970	broad.mit.edu	37	14	36946257	36946257	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:36946257G>A	ENST00000518529.2	-	3	855	c.180C>T	c.(178-180)tgC>tgT	p.C60C	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	60								p.C60C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GACTTGGCACGCAAACAGCGA	0.517																																						uc001wtr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(178-180)TGC>TGT		surfactant associated 3							173.0	181.0	178.0					14																	36946257		2135	4231	6366	SO:0001819	synonymous_variant	253970							g.chr14:36946257G>A	AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.180C>T	14.37:g.36946257G>A						SFTA3_uc001wtq.2_RNA|SFTA3_uc001wts.2_RNA	p.C60C	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN			3	812	-			60						Silent	SNP	ENST00000518529.2	37	c.180C>T	CCDS45097.1																																																																																				PASS	0.517	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376217.2	NM_001101341		22	122	22	122	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51446263	51446263	+	Nonsense_Mutation	SNP	C	C	A	rs200195393		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:51446263C>A	ENST00000298355.3	-	9	3033	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.E719*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	638	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E719*(1)|p.E638*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATCCCTCCCTCAGTTCTGTAG	0.438																																						uc001wyx.3																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|lung(1)	3						c.(1912-1914)GAG>TAG		tripartite motif protein 9 isoform 1							156.0	173.0	167.0					14																	51446263		2203	4300	6503	SO:0001587	stop_gained	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446263C>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1912G>T	14.37:g.51446263C>A	ENSP00000298355:p.Glu638*					TRIM9_uc001wyy.2_Nonsense_Mutation_p.E719*	p.E638*	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			9	2677	-	all_epithelial(31;0.00418)|Breast(41;0.148)		638			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	ENST00000298355.3	37	c.1912G>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	48	14.683732	0.99805	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	.	.	.	5.89	5.89	0.94794	.	0.047882	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	.	.	.	X	638;719	.	ENSP00000298355:E638X	E	-	1	0	TRIM9	50516013	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	GAG		PASS	0.438	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		114	242	114	242	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68248188	68248188	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:68248188C>T	ENST00000347230.4	-	22	4569	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L	ZFYVE26_ENST00000555452.1_Silent_p.L1477L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1477					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L1477L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACTGTAGGGCCAGCCGACTTC	0.517																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(4429-4431)CTG>CTA		zinc finger, FYVE domain containing 26							114.0	111.0	112.0					14																	68248188		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68248188C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4431G>A	14.37:g.68248188C>T						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1477L	p.L1477L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	22	4570	-			1477					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.4431G>A	CCDS9788.1																																																																																				PASS	0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		11	140	11	140	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73444717	73444717	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:73444717T>C	ENST00000556143.1	-	8	2273	c.1553A>G	c.(1552-1554)tAt>tGt	p.Y518C	ZFYVE1_ENST00000394207.2_Missense_Mutation_p.Y103C|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.Y103C|ZFYVE1_ENST00000318876.5_Intron|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.Y518C|ZFYVE1_ENST00000554145.1_5'UTR	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	518					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.Y518C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCGACTACGATAGACCACGCC	0.493																																						uc001xnm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1552-1554)TAT>TGT		zinc finger, FYVE domain containing 1 isoform 1							185.0	162.0	170.0					14																	73444717		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73444717T>C	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1553A>G	14.37:g.73444717T>C	ENSP00000450742:p.Tyr518Cys					ZFYVE1_uc001xnl.2_Missense_Mutation_p.Y103C|ZFYVE1_uc010arj.2_Intron	p.Y518C	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	8	2193	-		all_lung(585;1.33e-09)	518					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1553A>G	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802133	0.90538	.	.	ENSG00000165861	ENST00000553891;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T	0.75821	-0.97;-0.95;-0.75;-0.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88527	0.3100	10	0.87932	D	0	-25.0607	16.8222	0.85835	0.0:0.0:0.0:1.0	.	518	Q9HBF4	ZFYV1_HUMAN	C	518;518;103;103	ENSP00000452442:Y518C;ENSP00000450742:Y518C;ENSP00000377757:Y103C;ENSP00000452232:Y103C	ENSP00000326921:Y518C	Y	-	2	0	ZFYVE1	72514470	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.036000	0.88901	2.371000	0.80710	0.533000	0.62120	TAT		PASS	0.493	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		23	83	23	83	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88654343	88654343	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:88654343G>A	ENST00000340700.5	-	6	1415	c.964C>T	c.(964-966)Cta>Tta	p.L322L	KCNK10_ENST00000319231.5_Silent_p.L327L|KCNK10_ENST00000312350.5_Silent_p.L327L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	322					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L327L(2)|p.L322L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGAACCCGTAGCCAATCTCCG	0.478																																						uc001xwo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(964-966)CTA>TTA		potassium channel, subfamily K, member 10							148.0	147.0	148.0					14																	88654343		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654343G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.964C>T	14.37:g.88654343G>A						KCNK10_uc001xwm.2_Silent_p.L327L|KCNK10_uc001xwn.2_Silent_p.L327L	p.L322L	NM_021161	NP_066984	P57789	KCNKA_HUMAN			6	1421	-			322			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.964C>T	CCDS9880.1																																																																																				PASS	0.478	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		28	105	28	105	---	---	---	---
MIR494	574452	broad.mit.edu	37	14	101493134	101493134	+	RNA	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:101493134G>T	ENST00000349529.2	+	0	0				MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TACCTGAAGAGAGGTTTTCTG	0.443																																						hsa-mir-329-1|MI0001725																			0					0															253.0	212.0	224.0					14																	101493134		1568	3582	5150			574408							g.chr14:101493134G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493134G>T						MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank										+									RNA	SNP	ENST00000349529.2	37	c.13G>T																																																																																					PASS	0.443	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		29	119	29	119	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102552662	102552662	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr14:102552662C>G	ENST00000216281.8	-	2	259	c.54G>C	c.(52-54)gaG>gaC	p.E18D	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E140D|HSP90AA1_ENST00000441629.2_5'UTR	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	18					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E140D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AGGCGAACGTCTCAACCTCCT	0.478																																						uc001yku.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(52-54)GAG>GAC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						101.0	101.0	101.0					14																	102552662		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552662C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.54G>C	14.37:g.102552662C>G	ENSP00000216281:p.Glu18Asp					HSP90AA1_uc001ykv.3_Missense_Mutation_p.E140D|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E7D	p.E18D	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	244	-			18					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.54G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434079	0.43224	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.79940	-1.32;-1.32;-1.32	3.79	2.87	0.33458	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.065281	0.64402	U	0.000013	D	0.89111	0.6622	M	0.86343	2.81	0.80722	D	1	P;P	0.52316	0.952;0.797	D;P	0.64687	0.928;0.79	D	0.89538	0.3790	10	0.72032	D	0.01	.	11.7849	0.52037	0.0:0.9103:0.0:0.0897	.	140;18	P07900-2;P07900	.;HS90A_HUMAN	D	18;140;18	ENSP00000216281:E18D;ENSP00000335153:E140D;ENSP00000450712:E18D	ENSP00000216281:E18D	E	-	3	2	HSP90AA1	101622415	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	3.838000	0.55828	0.681000	0.31386	0.573000	0.79308	GAG		PASS	0.478	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		12	87	12	87	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28000605	28000605	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr15:28000605T>A	ENST00000354638.3	-	24	2601	c.2446A>T	c.(2446-2448)Atg>Ttg	p.M816L	OCA2_ENST00000353809.5_Missense_Mutation_p.M792L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	816					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.M816L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACAACCATCATTGGGAAGCCC	0.438									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2446-2448)ATG>TTG		oculocutaneous albinism II							145.0	123.0	131.0					15																	28000605		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28000605T>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2446A>T	15.37:g.28000605T>A	ENSP00000346659:p.Met816Leu					OCA2_uc010ayv.2_Missense_Mutation_p.M792L	p.M816L	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	24	2556	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	816			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.2446A>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	T	6.938	0.542787	0.13250	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.80123	-1.34;-1.34	5.77	2.08	0.27032	.	0.145352	0.64402	N	0.000016	T	0.54581	0.1867	N	0.04805	-0.155	0.50632	D	0.999883	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.22836	-1.0205	10	0.27082	T	0.32	-12.0522	2.6708	0.05066	0.1458:0.0816:0.1521:0.6205	.	792;816	Q04671-2;Q04671	.;P_HUMAN	L	816;792	ENSP00000346659:M816L;ENSP00000261276:M792L	ENSP00000261276:M792L	M	-	1	0	OCA2	25674200	0.524000	0.26282	0.221000	0.23827	0.214000	0.24535	0.532000	0.23067	0.091000	0.17302	0.460000	0.39030	ATG		PASS	0.438	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		12	52	12	52	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48748893	48748893	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr15:48748893C>A	ENST00000316623.5	-	44	5818	c.5363G>T	c.(5362-5364)aGc>aTc	p.S1788I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1788	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1788I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACATCGGAAGCTGCCAACCAT	0.433																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(5362-5364)AGC>ATC		fibrillin 1 precursor							160.0	140.0	147.0					15																	48748893		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48748893C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5363G>T	15.37:g.48748893C>A	ENSP00000325527:p.Ser1788Ile					FBN1_uc010beo.1_RNA	p.S1788I	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	44	5691	-		all_lung(180;0.00279)	1788			EGF-like 29; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5363G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323480	0.95708	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.95377	-3.69	5.8	5.8	0.92144	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	H	0.97635	4.045	0.80722	D	1	P	0.50369	0.934	P	0.52909	0.713	D	0.99218	1.0878	10	0.87932	D	0	.	19.6581	0.95851	0.0:1.0:0.0:0.0	.	1788	P35555	FBN1_HUMAN	I	1788;356;678	ENSP00000325527:S1788I	ENSP00000325527:S1788I	S	-	2	0	FBN1	46536185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	AGC		PASS	0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			30	123	30	123	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53907987	53907987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr15:53907987C>A	ENST00000396328.1	-	15	2655	c.2416G>T	c.(2416-2418)Gga>Tga	p.G806*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.G816*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.G806*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.G803*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	806								p.G806*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTATCCACTCCCCATGGCAAA	0.358																																						uc002acj.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(2416-2418)GGA>TGA		WD repeat domain 72							177.0	172.0	174.0					15																	53907987		2193	4293	6486	SO:0001587	stop_gained	256764							g.chr15:53907987C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2416G>T	15.37:g.53907987C>A	ENSP00000379619:p.Gly806*					WDR72_uc010bfi.1_Nonsense_Mutation_p.G806*	p.G806*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2458	-			806					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.2416G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	37	6.527363	0.97637	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.69	4.78	0.61160	.	0.069948	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8642	0.63578	0.0:0.9267:0.0:0.0733	.	.	.	.	X	806	.	ENSP00000353699:G806X	G	-	1	0	WDR72	51695279	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.790000	0.69038	1.416000	0.47057	0.563000	0.77884	GGA		PASS	0.358	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		114	234	114	234	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71341747	71341747	+	Splice_Site	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr15:71341747G>A	ENST00000260382.5	+	16	2117		c.e16-1		LRRC49_ENST00000560369.1_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTTTTAACAGGAAATAAAGG	0.294																																						uc002asw.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e16-1		leucine rich repeat containing 49							27.0	30.0	29.0					15																	71341747		2170	4288	6458	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71341747G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1858-1G>A	15.37:g.71341747G>A						LRRC49_uc002asu.2_Splice_Site_p.E610_splice|LRRC49_uc002asx.2_Splice_Site_p.E576_splice|LRRC49_uc010ukf.1_Splice_Site_p.E625_splice|LRRC49_uc002asy.2_Splice_Site_p.E326_splice|LRRC49_uc002asz.2_Splice_Site_p.E592_splice	p.E620_splice	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			16	2105	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37	c.1858_splice	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.055948	0.55325	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6149	0.76756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC49	69128801	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.439000	0.73430	2.547000	0.85894	0.655000	0.94253	.		PASS	0.294	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Intron	9	35	9	35	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79750711	79750711	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr15:79750711G>T	ENST00000305428.3	+	2	2297	c.2222G>T	c.(2221-2223)cGt>cTt	p.R741L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	741						integral component of membrane (GO:0016021)		p.R741L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TATACCAACCGTGTGGGCCTC	0.463																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2221-2223)CGT>CTT		hypothetical protein LOC23251							65.0	66.0	65.0					15																	79750711		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750711G>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2222G>T	15.37:g.79750711G>T	ENSP00000307461:p.Arg741Leu					KIAA1024_uc010unk.1_Missense_Mutation_p.R741L	p.R741L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2297	+			741					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2222G>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199467	0.38806	.	.	ENSG00000169330	ENST00000305428	T	0.32515	1.45	5.54	3.11	0.35812	.	0.481828	0.22957	N	0.053594	T	0.21022	0.0506	L	0.44542	1.39	0.18873	N	0.999983	B	0.28055	0.199	B	0.26693	0.072	T	0.11817	-1.0572	9	.	.	.	.	4.632	0.12506	0.5798:0.0:0.4202:0.0	.	741	Q9UPX6	K1024_HUMAN	L	741	ENSP00000307461:R741L	.	R	+	2	0	KIAA1024	77537766	1.000000	0.71417	0.099000	0.21106	0.030000	0.12068	6.354000	0.73036	1.087000	0.41251	0.655000	0.94253	CGT		PASS	0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		3	79	3	79	---	---	---	---
NARFL	64428	broad.mit.edu	37	16	780537	780537	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:780537C>T	ENST00000251588.2	-	11	1327	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	NARFL_ENST00000540986.1_Silent_p.G335G|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Silent_p.G335G	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	437					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.G437G(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCTCCTGAACCCCAGGCGCGT	0.667																																						uc002cjr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)GGG>GGA		nuclear prelamin A recognition factor-like							67.0	66.0	67.0					16																	780537		2200	4297	6497	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780537C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1311G>A	16.37:g.780537C>T						NARFL_uc002cjp.2_Silent_p.G335G|NARFL_uc002cjq.2_Silent_p.G335G|NARFL_uc002cjs.2_Silent_p.G219G	p.G437G	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			11	1323	-		Hepatocellular(780;0.0218)	437					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.1311G>A	CCDS10425.1																																																																																				PASS	0.667	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		12	64	12	64	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9934909	9934909	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:9934909T>A	ENST00000396573.2	-	7	1690	c.1381A>T	c.(1381-1383)Att>Ttt	p.I461F	GRIN2A_ENST00000330684.3_Missense_Mutation_p.I461F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.I461F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.I461F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.I304F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.I461F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	461					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.I461F(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGAATATCAATGCAGAACCCC	0.418																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1381-1383)ATT>TTT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						129.0	113.0	118.0					16																	9934909		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934909T>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1381A>T	16.37:g.9934909T>A	ENSP00000379818:p.Ile461Phe					GRIN2A_uc010uym.1_Missense_Mutation_p.I461F|GRIN2A_uc010uyn.1_Missense_Mutation_p.I304F|GRIN2A_uc002czr.3_Missense_Mutation_p.I461F	p.I461F	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			6	1929	-			461			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1381A>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.925592	0.92319	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.45	5.45	0.79879	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.048925	0.85682	D	0.000000	T	0.65112	0.2660	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	T	0.71048	-0.4705	9	.	.	.	.	14.7231	0.69323	0.0:0.0:0.0:1.0	.	304;461;461	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	F	461;461;304;461;461	ENSP00000379818:I461F;ENSP00000385872:I461F;ENSP00000441572:I304F;ENSP00000332549:I461F;ENSP00000379820:I461F	.	I	-	1	0	GRIN2A	9842410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.854000	0.86942	2.064000	0.61679	0.533000	0.62120	ATT		PASS	0.418	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			34	147	34	147	---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11945310	11945310	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:11945310C>A	ENST00000571133.1	-	1	132	c.60G>T	c.(58-60)tcG>tcT	p.S20S	RP11-166B2.8_ENST00000574364.1_RNA|RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	20					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S20S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CCGCTGGAGTCGAGGTGGAGG	0.612																																						uc002dbp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)TCG>TCT		ribosomal L1 domain containing 1							81.0	74.0	76.0					16																	11945310		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11945310C>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.60G>T	16.37:g.11945310C>A						RSL1D1_uc010buv.1_Silent_p.S20S|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	p.S20S	NM_015659	NP_056474	O76021	RL1D1_HUMAN			1	133	-			20					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.60G>T	CCDS10551.1																																																																																				PASS	0.612	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		3	62	3	62	---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16284196	16284196	+	Missense_Mutation	SNP	C	C	A	rs72653768		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:16284196C>A	ENST00000205557.7	-	12	1489	c.1460G>T	c.(1459-1461)cGg>cTg	p.R487L	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	487	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R487L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GAGCCGTGCCCGTGAGTCCTT	0.572																																						uc002den.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3	GRCh37	CM062375	ABCC6	M	rs72653768	c.(1459-1461)CGG>CTG		ATP-binding cassette, sub-family C, member 6							85.0	81.0	83.0					16																	16284196		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16284196C>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1460G>T	16.37:g.16284196C>A	ENSP00000205557:p.Arg487Leu					ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R499L	p.R487L	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	12	1497	-			487			ABC transmembrane type-1 1.|Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.1460G>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380949	0.61845	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.88431	-2.38;-2.38	5.09	5.09	0.68999	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.41712	U	0.000824	D	0.96275	0.8785	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	17.2611	0.87070	0.0:1.0:0.0:0.0	.	499;487	F5GWQ0;O95255	.;MRP6_HUMAN	L	487;487;499	ENSP00000205557:R487L;ENSP00000405002:R487L	ENSP00000205557:R487L	R	-	2	0	ABCC6	16191697	1.000000	0.71417	0.082000	0.20525	0.010000	0.07245	7.114000	0.77103	2.351000	0.79841	0.655000	0.94253	CGG		PASS	0.572	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			3	55	3	55	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19718381	19718381	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:19718381C>T	ENST00000219837.7	-	5	1306	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	KNOP1_ENST00000568230.1_Missense_Mutation_p.D89N|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	410	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D410N(1)									TGCAGGCTGTCAGCCGCCTTC	0.627																																						uc002dgq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)GAC>AAC		hypothetical protein LOC400506							48.0	54.0	52.0					16																	19718381		1876	4095	5971	SO:0001583	missense	400506					nucleolus		g.chr16:19718381C>T	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1228G>A	16.37:g.19718381C>T	ENSP00000219837:p.Asp410Asn						p.D410N	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			5	1243	-			410			Interaction with ZFP106 (By similarity).		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.1228G>A	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466918	0.26335	.	.	ENSG00000103550	ENST00000219837	T	0.22743	1.94	5.4	2.42	0.29668	.	1.012530	0.07893	N	0.971504	T	0.18509	0.0444	L	0.51422	1.61	0.09310	N	1	B	0.32753	0.383	B	0.29716	0.106	T	0.27673	-1.0067	9	.	.	.	-13.5358	5.7147	0.17954	0.0:0.5273:0.2542:0.2185	.	410	Q1ED39	CP088_HUMAN	N	410	ENSP00000219837:D410N	.	D	-	1	0	C16orf88	19625882	0.001000	0.12720	0.008000	0.14137	0.094000	0.18550	0.491000	0.22419	0.264000	0.21851	-0.251000	0.11542	GAC		PASS	0.627	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		14	50	14	50	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926937	31926937	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:31926937C>G	ENST00000300870.10	+	4	1576	c.1367C>G	c.(1366-1368)aCa>aGa	p.T456R		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	456					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T456R(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CAACATCAGACAACTCATACA	0.338																																						uc002ecs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1366-1368)ACA>AGA		zinc finger protein 267							77.0	85.0	82.0					16																	31926937		2197	4299	6496	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926937C>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1367C>G	16.37:g.31926937C>G	ENSP00000300870:p.Thr456Arg						p.T456R	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	1576	+			456			C2H2-type 5.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1367C>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	0.418	-0.909636	0.02434	.	.	ENSG00000185947	ENST00000300870	T	0.12039	2.72	0.458	-0.916	0.10489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	N	0.00042	-2.475	0.58432	D	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.47182	-0.9137	9	0.02654	T	1	.	5.7812	0.18308	0.0:0.3605:0.6395:0.0	.	456	Q14586	ZN267_HUMAN	R	456	ENSP00000300870:T456R	ENSP00000300870:T456R	T	+	2	0	ZNF267	31834438	0.007000	0.16637	0.010000	0.14722	0.009000	0.06853	1.481000	0.35476	-0.494000	0.06669	-0.494000	0.04653	ACA		PASS	0.338	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		17	120	17	120	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52473846	52473846	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:52473846C>A	ENST00000219746.9	-	7	1306	c.1022G>T	c.(1021-1023)cGt>cTt	p.R341L	TOX3_ENST00000407228.3_Missense_Mutation_p.R336L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	341					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R341L(1)|p.R336L(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTGAACAGAACGGATGGTCTG	0.458																																						uc002egw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1021-1023)CGT>CTT		TOX high mobility group box family member 3							88.0	85.0	86.0					16																	52473846		1983	4165	6148	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473846C>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1022G>T	16.37:g.52473846C>A	ENSP00000219746:p.Arg341Leu					TOX3_uc010vgt.1_Missense_Mutation_p.R336L|TOX3_uc010vgu.1_Missense_Mutation_p.R341L	p.R341L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			7	1193	-			341					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.1022G>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290264	0.59976	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.11063	2.83;2.81	5.75	4.79	0.61399	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.27053	0.805	0.80722	D	1	P;P	0.36282	0.546;0.546	B;B	0.33960	0.173;0.111	T	0.21484	-1.0244	10	0.29301	T	0.29	.	16.7572	0.85503	0.0:0.8707:0.1293:0.0	.	336;341	B4DRD0;O15405	.;TOX3_HUMAN	L	341;336	ENSP00000219746:R341L;ENSP00000385705:R336L	ENSP00000219746:R341L	R	-	2	0	TOX3	51031347	1.000000	0.71417	0.644000	0.29465	0.986000	0.74619	7.487000	0.81328	1.394000	0.46624	0.655000	0.94253	CGT		PASS	0.458	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		10	51	10	51	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53338368	53338368	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:53338368C>T	ENST00000398510.3	+	30	6537	c.6450C>T	c.(6448-6450)tcC>tcT	p.S2150S	CHD9_ENST00000564845.1_Silent_p.S2150S|CHD9_ENST00000566029.1_Silent_p.S2150S|CHD9_ENST00000447540.1_Silent_p.S2150S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2150	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S2150S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATCTTCTTCCTCATCATCCT	0.428																																						uc002ehb.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6448-6450)TCC>TCT		chromodomain helicase DNA binding protein 9							123.0	119.0	121.0					16																	53338368		2102	4236	6338	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338368C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6450C>T	16.37:g.53338368C>T						CHD9_uc002egy.2_Silent_p.S2150S|CHD9_uc002ehc.2_Silent_p.S2150S|CHD9_uc002ehf.2_Silent_p.S1264S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S156S	p.S2150S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6614	+		all_cancers(37;0.0212)	2150			Ser-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.6450C>T																																																																																					PASS	0.428	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	8	3	8	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75148012	75148012	+	Silent	SNP	C	C	G	rs560454562		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:75148012C>G	ENST00000450168.2	-	6	731	c.681G>C	c.(679-681)ggG>ggC	p.G227G	LDHD_ENST00000300051.4_Silent_p.G250G	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.G250G(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GGCCCAGCGTCCCCTCGGAGC	0.662																																						uc002fdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)GGG>GGC		D-lactate dehydrogenase isoform 1 precursor							68.0	67.0	67.0					16																	75148012		2198	4300	6498	SO:0001819	synonymous_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75148012C>G	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.681G>C	16.37:g.75148012C>G						LDHD_uc002fdn.2_Silent_p.G227G	p.G250G	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			6	797	-			250			FAD-binding PCMH-type.			Silent	SNP	ENST00000450168.2	37	c.750G>C	CCDS45529.1																																																																																				PASS	0.662	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		71	52	71	52	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563556	75563556	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:75563556C>T	ENST00000336257.3	-	3	2121	c.727G>A	c.(727-729)Gac>Aac	p.D243N	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D249N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	243					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D243N(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGCCGTTGTCGCGTGCCAGT	0.726																																						uc002fei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GAC>AAC		carbohydrate (N-acetylglucosamine 6-O)							28.0	32.0	31.0					16																	75563556		2186	4270	6456	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563556C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.727G>A	16.37:g.75563556C>T	ENSP00000338783:p.Asp243Asn					CHST5_uc002fej.1_Missense_Mutation_p.D249N	p.D243N	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2122	-			243			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.727G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146508	0.57044	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96491	-4.03;-4.03	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	L	0.58669	1.825	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95611	0.8672	10	0.33141	T	0.24	.	12.6629	0.56824	0.0:1.0:0.0:0.0	.	249;243	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	243;249	ENSP00000338783:D243N;ENSP00000441220:D249N	ENSP00000338783:D243N	D	-	1	0	CHST5	74121057	1.000000	0.71417	0.896000	0.35187	0.019000	0.09904	7.308000	0.78929	1.583000	0.49898	0.313000	0.20887	GAC		PASS	0.726	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		10	17	10	17	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78056612	78056612	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:78056612G>T	ENST00000575655.1	+	1	170	c.89G>T	c.(88-90)aGg>aTg	p.R30M	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R39M|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	30					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R30M(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTAAAAGCCAGGAAGCACAGC	0.483																																						uc002ffh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)AGG>ATG		C-type lectin domain family 3 member A							111.0	86.0	95.0					16																	78056612		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78056612G>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.89G>T	16.37:g.78056612G>T	ENSP00000460682:p.Arg30Met						p.R30M	NM_005752	NP_005743	O75596	CLC3A_HUMAN			1	170	+			30					B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.89G>T		.	.	.	.	.	.	.	.	.	.	G	13.58	2.279426	0.40294	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.71	3.77	0.43336	.	0.408994	0.27219	N	0.020371	T	0.39545	0.1082	N	0.22421	0.69	0.34021	D	0.652617	D	0.61697	0.99	P	0.48901	0.594	T	0.54417	-0.8297	9	0.54805	T	0.06	-18.9069	10.2903	0.43592	0.2167:0.0:0.7833:0.0	.	30	O75596	CLC3A_HUMAN	M	30	.	ENSP00000299642:R30M	R	+	2	0	CLEC3A	76614113	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	1.327000	0.33746	0.771000	0.33359	0.655000	0.94253	AGG		PASS	0.483	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		3	51	3	51	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80638367	80638367	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:80638367A>G	ENST00000570137.2	-	7	1594	c.1439T>C	c.(1438-1440)cTc>cCc	p.L480P	CDYL2_ENST00000566173.1_Missense_Mutation_p.L481P|CDYL2_ENST00000563890.1_Missense_Mutation_p.L481P|CDYL2_ENST00000562812.1_Missense_Mutation_p.L481P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	480						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L480P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTTGAGCATGAGGCATTCCTT	0.532																																						uc002ffs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1438-1440)CTC>CCC		chromodomain protein, Y-like 2							139.0	132.0	135.0					16																	80638367		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80638367A>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1439T>C	16.37:g.80638367A>G	ENSP00000476295:p.Leu480Pro						p.L480P	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			7	1544	-			480					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1439T>C	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205285	0.39003	.	.	ENSG00000166446	ENST00000299564	T	0.66638	-0.22	5.19	4.05	0.47172	.	0.556195	0.17550	N	0.170222	T	0.47525	0.1450	N	0.08118	0	0.51767	D	0.99993	B	0.22604	0.072	B	0.32864	0.154	T	0.48990	-0.8985	10	0.52906	T	0.07	.	7.9987	0.30284	0.6829:0.0:0.0:0.3171	.	480	Q8N8U2	CDYL2_HUMAN	P	480	ENSP00000299564:L480P	ENSP00000299564:L480P	L	-	2	0	CDYL2	79195868	0.995000	0.38212	0.976000	0.42696	0.985000	0.73830	3.202000	0.51067	2.194000	0.70268	0.528000	0.53228	CTC		PASS	0.532	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		40	102	40	102	---	---	---	---
KLHL36	79786	broad.mit.edu	37	16	84691194	84691194	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr16:84691194G>A	ENST00000564996.1	+	3	922	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KLHL36_ENST00000258157.5_Missense_Mutation_p.A261T	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	261					protein ubiquitination (GO:0016567)			p.A261T(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCCCAAGGAGGCCAACTGCGA	0.672																																						uc002fig.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(781-783)GCC>ACC		kelch-like 36							35.0	30.0	32.0					16																	84691194		2196	4298	6494	SO:0001583	missense	79786							g.chr16:84691194G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.781G>A	16.37:g.84691194G>A	ENSP00000456743:p.Ala261Thr					KLHL36_uc010chl.2_Missense_Mutation_p.A260T	p.A261T	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			3	922	+			261					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.781G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262210	0.23051	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.73258	-0.73	5.51	3.49	0.39957	.	0.159052	0.56097	N	0.000029	T	0.59183	0.2175	L	0.45581	1.43	0.48236	D	0.999612	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.48525	-0.9028	10	0.13853	T	0.58	.	10.0666	0.42308	0.1696:0.0:0.8304:0.0	.	261;261	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	T	261	ENSP00000258157:A261T	ENSP00000258157:A261T	A	+	1	0	KLHL36	83248695	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	2.189000	0.42621	0.631000	0.30412	0.563000	0.77884	GCC		PASS	0.672	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			4	35	4	35	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3664340	3664340	+	Missense_Mutation	SNP	C	C	T	rs552872131		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:3664340C>T	ENST00000263087.4	-	6	663	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	189	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E189K(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		tcctcctcctccttgtcttcc	0.572																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|pancreas(1)	4						c.(565-567)GAG>AAG		integrin, alpha E precursor							103.0	105.0	104.0					17																	3664340		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664340C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.565G>A	17.37:g.3664340C>T	ENSP00000263087:p.Glu189Lys						p.E189K	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	6	664	-			189			Glu-rich (acidic).|Extracellular (Potential).|X-domain (extra domain).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.565G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	3.422	-0.118039	0.06838	.	.	ENSG00000083457	ENST00000263087	T	0.60797	0.16	1.26	1.26	0.21427	.	.	.	.	.	T	0.46908	0.1417	N	0.22421	0.69	0.09310	N	1	D	0.57571	0.98	P	0.57009	0.811	T	0.39210	-0.9625	9	0.05721	T	0.95	.	5.9026	0.18976	0.0:1.0:0.0:0.0	.	189	P38570	ITAE_HUMAN	K	189	ENSP00000263087:E189K	ENSP00000263087:E189K	E	-	1	0	ITGAE	3611089	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.481000	0.22260	1.006000	0.39211	0.407000	0.27541	GAG		PASS	0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		23	62	23	62	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)CCT>TCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	65.0					17																	7577106		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.chr17:7577106G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S	p.P278S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1026	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|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.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	11	23	11	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10212956	10212956	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:10212956C>A	ENST00000418404.3	-	33	5011	c.4848G>T	c.(4846-4848)ctG>ctT	p.L1616L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1616L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1616					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1616L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTTAGCCTCAGGGCGTCGT	0.567																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(4846-4848)CTG>CTT		myosin, heavy polypeptide 13, skeletal muscle							49.0	50.0	50.0					17																	10212956		2180	4289	6469	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212956C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4848G>T	17.37:g.10212956C>A							p.L1616L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			34	4938	-			1616			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4848G>T	CCDS45613.1																																																																																				PASS	0.567	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		3	12	3	12	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10359839	10359839	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:10359839T>C	ENST00000255381.2	-	17	2041	c.1931A>G	c.(1930-1932)aAg>aGg	p.K644R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	644	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.K644R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGAAGAACCCTTCTTTTTGCC	0.333																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1930-1932)AAG>AGG		myosin, heavy polypeptide 4, skeletal muscle							67.0	68.0	68.0					17																	10359839		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359839T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1931A>G	17.37:g.10359839T>C	ENSP00000255381:p.Lys644Arg					uc002gml.1_Intron	p.K644R	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			17	2042	-			644			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1931A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961976	0.92791	.	.	ENSG00000141048	ENST00000255381	D	0.87571	-2.27	5.11	5.11	0.69529	Myosin head, motor domain (2);	0.000000	0.39146	U	0.001450	D	0.91123	0.7205	L	0.49350	1.555	0.58432	D	0.999996	B	0.24258	0.1	P	0.50791	0.65	D	0.89687	0.3895	10	0.48119	T	0.1	.	15.2103	0.73219	0.0:0.0:0.0:1.0	.	644	Q9Y623	MYH4_HUMAN	R	644	ENSP00000255381:K644R	ENSP00000255381:K644R	K	-	2	0	MYH4	10300564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.052000	0.61016	0.528000	0.53228	AAG		PASS	0.333	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		46	34	46	34	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10543358	10543358	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:10543358C>T	ENST00000583535.1	-	22	2724	c.2637G>A	c.(2635-2637)gtG>gtA	p.V879V	MYH3_ENST00000226209.7_Silent_p.V879V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	879					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.V879V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGACCAGAGTCACCAGTTTTT	0.403																																						uc002gmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2635-2637)GTG>GTA		myosin, heavy chain 3, skeletal muscle,							126.0	114.0	118.0					17																	10543358		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543358C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2637G>A	17.37:g.10543358C>T							p.V879V	NM_002470	NP_002461	P11055	MYH3_HUMAN			21	2714	-			879			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.2637G>A	CCDS11157.1																																																																																				PASS	0.403	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		25	63	25	63	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37370535	37370535	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:37370535C>G	ENST00000333461.5	-	8	1261	c.892G>C	c.(892-894)Gtt>Ctt	p.V298L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	298	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.V298L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TAGAGTGCAACGTAGGAGTAC	0.607																																						uc002hrs.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(892-894)GTT>CTT		SH3 and cysteine rich domain 2							157.0	136.0	143.0					17																	37370535		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37370535C>G	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.892G>C	17.37:g.37370535C>G	ENSP00000327509:p.Val298Leu					STAC2_uc010cvt.2_Missense_Mutation_p.V156L	p.V298L	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			8	1111	-			298			SH3.		Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.892G>C	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	17.75	3.466304	0.63625	.	.	ENSG00000141750	ENST00000333461	D	0.88975	-2.45	4.64	4.64	0.57946	Src homology-3 domain (5);	0.000000	0.64402	D	0.000001	D	0.90390	0.6992	L	0.49126	1.545	0.80722	D	1	P	0.47484	0.896	P	0.52343	0.696	D	0.91128	0.4935	10	0.59425	D	0.04	-14.659	16.7917	0.85591	0.0:1.0:0.0:0.0	.	298	Q6ZMT1	STAC2_HUMAN	L	298	ENSP00000327509:V298L	ENSP00000327509:V298L	V	-	1	0	STAC2	34624061	1.000000	0.71417	0.072000	0.20136	0.170000	0.22686	6.484000	0.73621	2.573000	0.86826	0.655000	0.94253	GTT		PASS	0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		60	87	60	87	---	---	---	---
MIEN1	84299	broad.mit.edu	37	17	37886012	37886012	+	Missense_Mutation	SNP	C	C	A	rs551080208		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:37886012C>A	ENST00000394231.3	-	3	481	c.190G>T	c.(190-192)Gcc>Tcc	p.A64S	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000577810.1_Missense_Mutation_p.A64S|MIEN1_ENST00000474210.1_5'UTR			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	64					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)	p.A64S(1)									ATCTCAAAGGCACCTGGTAAG	0.483																																						uc002hsq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GCC>TCC		hypothetical protein LOC84299							104.0	104.0	104.0					17																	37886012		2203	4300	6503	SO:0001583	missense	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37886012C>A	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.190G>T	17.37:g.37886012C>A	ENSP00000377778:p.Ala64Ser						p.A64S	NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	230	-	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		64						Missense_Mutation	SNP	ENST00000394231.3	37	c.190G>T	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579933	0.46006	.	.	ENSG00000141741	ENST00000394231	T	0.49432	0.78	5.8	5.8	0.92144	.	0.143599	0.46145	D	0.000310	T	0.42108	0.1188	L	0.49640	1.575	0.44477	D	0.997415	B	0.20671	0.047	B	0.18561	0.022	T	0.38672	-0.9650	10	0.06236	T	0.91	-8.2383	18.8259	0.92119	0.0:1.0:0.0:0.0	.	64	Q9BRT3	MIEN1_HUMAN	S	64	ENSP00000377778:A64S	ENSP00000377778:A64S	A	-	1	0	C17orf37	35139538	0.991000	0.36638	1.000000	0.80357	0.612000	0.37316	2.590000	0.46154	2.746000	0.94184	0.591000	0.81541	GCC		PASS	0.483	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3	NM_032339		36	155	36	155	---	---	---	---
JUP	3728	broad.mit.edu	37	17	39913763	39913763	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:39913763G>A	ENST00000393931.3	-	12	2068	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	JUP_ENST00000310706.5_Silent_p.F650F|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.F650F	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	650	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.F650F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGAGATGCGGAACAGGACGG	0.622																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1948-1950)TTC>TTT		junction plakoglobin							91.0	90.0	90.0					17																	39913763		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39913763G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1950C>T	17.37:g.39913763G>A						JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.F650F|JUP_uc002hxs.2_Silent_p.F650F	p.F650F	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	12	2227	-		Breast(137;0.000162)	650					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.1950C>T	CCDS11407.1																																																																																				PASS	0.622	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			16	109	16	109	---	---	---	---
TBX21	30009	broad.mit.edu	37	17	45821586	45821586	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:45821586A>G	ENST00000177694.1	+	4	1005	c.794A>G	c.(793-795)aAg>aGg	p.K265R		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	265					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K265R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCCTCCATAAGTACCAGCCC	0.547																																						uc002ilv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)AAG>AGG		T-box 21							94.0	80.0	85.0					17																	45821586		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45821586A>G	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.794A>G	17.37:g.45821586A>G	ENSP00000177694:p.Lys265Arg						p.K265R	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			4	1005	+			265			T-box.			Missense_Mutation	SNP	ENST00000177694.1	37	c.794A>G	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	A	31	5.075476	0.94000	.	.	ENSG00000073861	ENST00000177694	D	0.89050	-2.46	4.9	4.9	0.64082	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	L	0.58925	1.835	0.58432	D	0.999999	P	0.47545	0.897	P	0.60789	0.879	D	0.91955	0.5574	10	0.49607	T	0.09	.	13.5114	0.61515	1.0:0.0:0.0:0.0	.	265	Q9UL17	TBX21_HUMAN	R	265	ENSP00000177694:K265R	ENSP00000177694:K265R	K	+	2	0	TBX21	43176585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.310000	0.96267	1.847000	0.53656	0.460000	0.39030	AAG		PASS	0.547	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		8	85	8	85	---	---	---	---
COPZ2	51226	broad.mit.edu	37	17	46105865	46105865	+	Silent	SNP	G	G	A	rs368840240		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:46105865G>A	ENST00000006101.4	-	9	551	c.552C>T	c.(550-552)ggC>ggT	p.G184G	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	186					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)		p.G184G(1)		lung(3)|upper_aerodigestive_tract(1)	4						CAGTCAAGCCGCCATCATCTG	0.592																																						uc002imy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)GGC>GGT		coatomer protein complex, subunit zeta 2		G		1,3931		0,1,1965	23.0	24.0	23.0		554	-2.1	0.0	17		23	0,8270		0,0,4135	no	coding-synonymous	COPZ2	NM_016429.2		0,1,6100	AA,AG,GG		0.0,0.0254,0.0082		186/211	46105865	1,12201	1966	4135	6101	SO:0001819	synonymous_variant	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46105865G>A	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.552C>T	17.37:g.46105865G>A							p.G186G	NM_016429	NP_057513	Q9P299	COPZ2_HUMAN			12	571	-			186						Silent	SNP	ENST00000006101.4	37	c.558C>T																																																																																					PASS	0.592	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		5	8	5	8	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48819091	48819091	+	Splice_Site	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:48819091A>T	ENST00000505658.1	+	5	614	c.425A>T	c.(424-426)cAg>cTg	p.Q142L	LUC7L3_ENST00000544170.1_Splice_Site_p.Q66L|LUC7L3_ENST00000393227.2_Splice_Site_p.Q142L|LUC7L3_ENST00000240304.1_Splice_Site_p.Q142L			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	142					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.Q142L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						CTTCTGCAACAGGTGAGAATT	0.388																																						uc002isr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)CAG>CTG		LUC7-like 3							68.0	60.0	62.0					17																	48819091		2203	4300	6503	SO:0001630	splice_region_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48819091A>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.426+1A>T	17.37:g.48819091A>T						LUC7L3_uc002isp.1_Missense_Mutation_p.Q66L|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q66L|LUC7L3_uc002isq.2_Missense_Mutation_p.Q142L|LUC7L3_uc002iss.2_Missense_Mutation_p.Q142L	p.Q142L	NM_006107	NP_006098	O95232	LC7L3_HUMAN			5	542	+			142			Potential.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.425A>T	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789285	0.90367	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.47528	1.18;1.18;1.18;0.84	5.49	5.49	0.81192	.	0.051309	0.85682	D	0.000000	T	0.66287	0.2774	M	0.67397	2.05	0.80722	D	1	P;P;P	0.49559	0.749;0.925;0.925	P;D;D	0.65140	0.472;0.932;0.932	T	0.68265	-0.5454	10	0.59425	D	0.04	-10.9834	15.882	0.79211	1.0:0.0:0.0:0.0	.	66;142;142	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	L	142;142;142;142;66	ENSP00000425092:Q142L;ENSP00000376919:Q142L;ENSP00000240304:Q142L;ENSP00000444253:Q66L	ENSP00000240304:Q142L	Q	+	2	0	LUC7L3	46174090	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.015000	0.88690	2.211000	0.71520	0.366000	0.22137	CAG		PASS	0.388	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424	Missense_Mutation	9	57	9	57	---	---	---	---
C17orf82	388407	broad.mit.edu	37	17	59489450	59489450	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:59489450C>A	ENST00000335108.2	+	1	339	c.114C>A	c.(112-114)ttC>ttA	p.F38L	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	38								p.F38L(2)		cervix(1)|lung(1)	2						CCCCCTCCTTCGCTGTCCTTG	0.682											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002izh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(112-114)TTC>TTA		hypothetical protein LOC388407							28.0	31.0	30.0					17																	59489450		2201	4300	6501	SO:0001583	missense	388407							g.chr17:59489450C>A	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.114C>A	17.37:g.59489450C>A	ENSP00000335229:p.Phe38Leu		OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1038		p.F38L	NM_203425	NP_982249	Q86X59	CQ082_HUMAN			1	339	+			38						Missense_Mutation	SNP	ENST00000335108.2	37	c.114C>A	CCDS11628.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529830	0.27387	.	.	ENSG00000187013	ENST00000335108	T	0.52526	0.66	3.58	-2.32	0.06745	.	.	.	.	.	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17684	-1.0361	9	0.87932	D	0	.	0.6814	0.00875	0.1585:0.3103:0.1934:0.3377	.	38	Q86X59	CQ082_HUMAN	L	38	ENSP00000335229:F38L	ENSP00000335229:F38L	F	+	3	2	C17orf82	56844232	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	-0.368000	0.08040	-0.355000	0.07637	TTC		PASS	0.682	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1	NM_203425		3	29	3	29	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72308155	72308155	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:72308155A>T	ENST00000311014.6	+	12	1575	c.1508A>T	c.(1507-1509)gAg>gTg	p.E503V	DNAI2_ENST00000579490.1_Missense_Mutation_p.E560V|DNAI2_ENST00000307504.5_Missense_Mutation_p.E360V|DNAI2_ENST00000582036.1_Missense_Mutation_p.E491V|DNAI2_ENST00000446837.2_Missense_Mutation_p.E503V|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	503					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.E503V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTTGAGCGTGAGACCCGGCGA	0.652									Kartagener syndrome																													uc002jkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1507-1509)GAG>GTG		dynein, axonemal, intermediate polypeptide 2							40.0	39.0	39.0					17																	72308155		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308155A>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1508A>T	17.37:g.72308155A>T	ENSP00000308312:p.Glu503Val					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	p.E503V	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			12	1607	+			503					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1508A>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688361	0.88639	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.37584	1.19;1.19;1.19	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78593	-0.2144	10	0.87932	D	0	-39.5708	14.373	0.66854	1.0:0.0:0.0:0.0	.	503	Q9GZS0	DNAI2_HUMAN	V	503;360;503	ENSP00000308312:E503V;ENSP00000302929:E360V;ENSP00000400252:E503V	ENSP00000302929:E360V	E	+	2	0	DNAI2	69819750	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	9.049000	0.93837	1.809000	0.52856	0.397000	0.26171	GAG		PASS	0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		21	37	21	37	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74163102	74163102	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:74163102C>A	ENST00000269391.6	-	5	681	c.549G>T	c.(547-549)tgG>tgT	p.W183C	RNF157_ENST00000319945.6_Missense_Mutation_p.W183C	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	183							zinc ion binding (GO:0008270)	p.W793C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTCTTCGGCCCACTCGGAGG	0.602																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)TGG>TGT		ring finger protein 157							86.0	83.0	84.0					17																	74163102		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74163102C>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.549G>T	17.37:g.74163102C>A	ENSP00000269391:p.Trp183Cys					RNF157_uc002jra.2_Missense_Mutation_p.W183C	p.W183C	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		5	618	-			183					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.549G>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235701	0.79800	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.31510	1.49;1.49	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68765	0.96;0.912	T	0.60616	-0.7228	10	0.72032	D	0.01	-16.58	18.9722	0.92719	0.0:1.0:0.0:0.0	.	183;183	Q96PX1-2;Q96PX1	.;RN157_HUMAN	C	183;183;145	ENSP00000269391:W183C;ENSP00000321837:W183C	ENSP00000269391:W183C	W	-	3	0	RNF157	71674697	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	7.793000	0.85851	2.556000	0.86216	0.655000	0.94253	TGG		PASS	0.602	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		18	149	18	149	---	---	---	---
AATK	9625	broad.mit.edu	37	17	79095253	79095253	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr17:79095253G>A	ENST00000326724.4	-	11	2507	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M	AATK_ENST00000417379.1_Missense_Mutation_p.T725M	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	828	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.T828M(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGTAGCAGGCGTGGGAGAGTC	0.672																																						uc010dia.2																			2	Substitution - Missense(2)		lung(2)	stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2482-2484)ACG>ATG		apoptosis-associated tyrosine kinase							19.0	25.0	23.0					17																	79095253		2121	4219	6340	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79095253G>A	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2483C>T	17.37:g.79095253G>A	ENSP00000324196:p.Thr828Met					AATK_uc010dhz.2_RNA	p.T828M	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	2563	-	all_neural(118;0.101)		828			Pro-rich.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2483C>T	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.480|8.480	0.859503|0.859503	0.17178|0.17178	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724;ENST00000374792	.|T;T	.|0.80304	.|-1.15;-1.36	4.36|4.36	-0.398|-0.398	0.12418|0.12418	.|.	.|0.467275	.|0.18537	.|N	.|0.138314	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.46339	.|0.513	T|T	0.63435|0.63435	-0.6638|-0.6638	5|10	.|0.52906	.|T	.|0.07	.|.	8.619|8.619	0.33849|0.33849	0.086:0.4371:0.4769:0.0|0.086:0.4371:0.4769:0.0	.|.	.|828	.|Q6ZMQ8	.|LMTK1_HUMAN	C|M	781|828;792	.|ENSP00000324196:T828M;ENSP00000363924:T792M	.|ENSP00000324196:T828M	R|T	-|-	1|2	0|0	AATK|AATK	76709848|76709848	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.000000|0.000000	0.00434|0.00434	0.070000|0.070000	0.14573|0.14573	0.007000|0.007000	0.14760|0.14760	-2.542000|-2.542000	0.00179|0.00179	CGC|ACG		PASS	0.672	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		4	6	4	6	---	---	---	---
FAM210A	125228	broad.mit.edu	37	18	13671861	13671861	+	Splice_Site	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr18:13671861C>T	ENST00000322247.3	-	4	972	c.585G>A	c.(583-585)aaG>aaA	p.K195K	FAM210A_ENST00000588475.1_Intron|FAM210A_ENST00000402563.1_Splice_Site_p.K195K	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	195	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K195K(1)									CAGTACCCACCTTAAACAAGG	0.448																																						uc010dlh.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(583-585)AAG>AAA		hypothetical protein LOC125228							119.0	100.0	107.0					18																	13671861		2203	4300	6503	SO:0001630	splice_region_variant	125228					integral to membrane		g.chr18:13671861C>T	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.585+1G>A	18.37:g.13671861C>T						C18orf19_uc010dlg.2_Intron|C18orf19_uc010dli.2_Silent_p.K195K|C18orf19_uc002ksj.3_Silent_p.K195K|C18orf19_uc010dlj.2_Intron	p.K195K	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN			4	1017	-			195			DUF1279.		D3DUJ4	Silent	SNP	ENST00000322247.3	37	c.585G>A	CCDS11866.1																																																																																				PASS	0.448	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	Silent	12	60	12	60	---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33706701	33706701	+	Silent	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr18:33706701G>T	ENST00000590986.1	-	2	559	c.270C>A	c.(268-270)atC>atA	p.I90I	SLC39A6_ENST00000269187.5_Silent_p.I90I|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	90					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I90I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ggtgTATATGGATTCTTTTAA	0.413																																						uc010dmy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(268-270)ATC>ATA		solute carrier family 39 (zinc transporter),							163.0	152.0	155.0					18																	33706701		2032	4182	6214	SO:0001819	synonymous_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706701G>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.270C>A	18.37:g.33706701G>T						SLC39A6_uc002kzj.2_Intron	p.I90I	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	560	-			90			Extracellular (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	c.270C>A	CCDS42428.1																																																																																				PASS	0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			16	60	16	60	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63430272	63430272	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr18:63430272C>G	ENST00000397968.2	+	2	620	c.194C>G	c.(193-195)cCc>cGc	p.P65R	CDH7_ENST00000581601.1_3'UTR|CDH7_ENST00000323011.3_Missense_Mutation_p.P65R|CDH7_ENST00000536984.2_Missense_Mutation_p.P65R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P65R(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGTTCAGACCCCCTCTATGTA	0.423																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(193-195)CCC>CGC		cadherin 7, type 2 preproprotein							64.0	61.0	62.0					18																	63430272		2203	4299	6502	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63430272C>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.194C>G	18.37:g.63430272C>G	ENSP00000381058:p.Pro65Arg					CDH7_uc002lka.2_Missense_Mutation_p.P65R|CDH7_uc002lkb.2_Missense_Mutation_p.P65R	p.P65R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			2	519	+		Esophageal squamous(42;0.129)	65			Extracellular (Potential).|Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.194C>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840532	0.71488	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.00753	5.74;5.74;5.74	5.45	5.45	0.79879	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.03263	0.0095	M	0.67625	2.065	0.80722	D	1	P;D	0.61697	0.903;0.99	P;P	0.56127	0.648;0.792	T	0.48885	-0.8995	10	0.87932	D	0	.	19.2996	0.94138	0.0:1.0:0.0:0.0	.	65;65	F5H5X9;Q9ULB5	.;CADH7_HUMAN	R	65	ENSP00000319166:P65R;ENSP00000443030:P65R;ENSP00000381058:P65R	ENSP00000319166:P65R	P	+	2	0	CDH7	61581252	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.145000	0.77365	2.555000	0.86185	0.655000	0.94253	CCC		PASS	0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		6	50	6	50	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74962661	74962661	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr18:74962661C>A	ENST00000299727.3	+	1	157	c.157C>A	c.(157-159)Cta>Ata	p.L53I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L53I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GGGCAACAGCCTAGTGATCAC	0.667																																						uc002lms.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(157-159)CTA>ATA		galanin receptor 1							44.0	40.0	41.0					18																	74962661		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962661C>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.157C>A	18.37:g.74962661C>A	ENSP00000299727:p.Leu53Ile						p.L53I	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	654	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	53			Helical; Name=1; (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.157C>A	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382004	0.61845	.	.	ENSG00000166573	ENST00000299727	T	0.77877	-1.13	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.143633	0.48767	D	0.000170	T	0.78578	0.4305	L	0.46614	1.455	0.53688	D	0.999975	P	0.35944	0.529	P	0.49637	0.617	T	0.79593	-0.1739	10	0.72032	D	0.01	.	8.0952	0.30824	0.0:0.8171:0.0:0.1829	.	53	P47211	GALR1_HUMAN	I	53	ENSP00000299727:L53I	ENSP00000299727:L53I	L	+	1	2	GALR1	73091649	0.133000	0.22466	1.000000	0.80357	0.981000	0.71138	0.571000	0.23669	2.038000	0.60285	0.585000	0.79938	CTA		PASS	0.667	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			12	14	12	14	---	---	---	---
ODF3L2	284451	broad.mit.edu	37	19	463979	463979	+	Silent	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:463979T>A	ENST00000315489.4	-	4	970	c.735A>T	c.(733-735)ccA>ccT	p.P245P	SHC2_ENST00000264554.6_5'Flank|ODF3L2_ENST00000382696.3_Silent_p.P209P	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	245	Pro-rich.					cytoplasmic microtubule (GO:0005881)		p.P245P(1)		large_intestine(1)|lung(2)	3						TGACCTGCTCTGGGCAGTGGG	0.716																																						uc002lor.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CCA>CCT		outer dense fiber of sperm tails 3-like 2							19.0	24.0	22.0					19																	463979		2196	4289	6485	SO:0001819	synonymous_variant	284451							g.chr19:463979T>A	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.735A>T	19.37:g.463979T>A						SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Silent_p.P209P	p.P245P	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN			4	971	-			245			DUF1309 3.|Pro-rich.		Q3SX65|Q8N1L2	Silent	SNP	ENST00000315489.4	37	c.735A>T	CCDS12027.1																																																																																				PASS	0.716	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		13	7	13	7	---	---	---	---
DAPK3	1613	broad.mit.edu	37	19	3964897	3964897	+	Missense_Mutation	SNP	C	C	A	rs199653811		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:3964897C>A	ENST00000545797.2	-	3	398	c.155G>T	c.(154-156)aGc>aTc	p.S52I	DAPK3_ENST00000301264.3_Missense_Mutation_p.S52I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.S52I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACGCCGGCTGGATGACAG	0.632																																						uc002lzc.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(154-156)AGC>ATC		death-associated protein kinase 3							73.0	77.0	76.0					19																	3964897		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964897C>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.155G>T	19.37:g.3964897C>A	ENSP00000442973:p.Ser52Ile					DAPK3_uc002lzd.1_Missense_Mutation_p.S52I	p.S52I	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	248	-		Hepatocellular(1079;0.137)	52			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.155G>T	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144275	0.94603	.	.	ENSG00000167657	ENST00000301264;ENST00000545797	T;T	0.66638	-0.22;-0.22	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77525	-0.2555	10	0.56958	D	0.05	.	18.4942	0.90858	0.0:1.0:0.0:0.0	.	52	O43293	DAPK3_HUMAN	I	52	ENSP00000301264:S52I;ENSP00000442973:S52I	ENSP00000301264:S52I	S	-	2	0	DAPK3	3915897	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.618000	0.83043	2.604000	0.88044	0.561000	0.74099	AGC		PASS	0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		15	46	15	46	---	---	---	---
FUT6	2528	broad.mit.edu	37	19	5831879	5831879	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:5831879T>A	ENST00000318336.4	-	3	1894	c.700A>T	c.(700-702)Atg>Ttg	p.M234L	FUT6_ENST00000527106.1_Missense_Mutation_p.M234L|FUT6_ENST00000286955.5_Missense_Mutation_p.M234L|FUT6_ENST00000524754.1_Missense_Mutation_p.M234L|FUT6_ENST00000592563.1_Missense_Mutation_p.M234L	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	234					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.M234L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCGTCTCCATCATGGTTCCC	0.617																																						uc002mdf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)ATG>TTG		fucosyltransferase 6							129.0	124.0	125.0					19																	5831879		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831879T>A		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.700A>T	19.37:g.5831879T>A	ENSP00000313398:p.Met234Leu					FUT6_uc002mdg.1_Missense_Mutation_p.M234L|FUT6_uc002mdh.1_Missense_Mutation_p.M234L|FUT6_uc010dul.1_Missense_Mutation_p.M234L	p.M234L	NM_001040701	NP_001035791	P51993	FUT6_HUMAN			4	1226	-			234			Lumenal (Potential).		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.700A>T	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	T	3.220	-0.159783	0.06502	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	3.07	-2.86	0.05717	.	0.655431	0.14035	N	0.345850	T	0.04092	0.0114	N	0.01729	-0.75	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33574	-0.9863	10	0.02654	T	1	.	0.8953	0.01263	0.1653:0.2417:0.335:0.258	.	234;234	C9J8A2;P51993	.;FUT6_HUMAN	L	234	ENSP00000431708:M234L;ENSP00000432954:M234L;ENSP00000313398:M234L;ENSP00000286955:M234L	ENSP00000286955:M234L	M	-	1	0	FUT6	5782879	0.000000	0.05858	0.080000	0.20451	0.025000	0.11179	-0.143000	0.10296	-0.384000	0.07845	0.352000	0.21897	ATG		PASS	0.617	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		31	88	31	88	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9869345	9869345	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:9869345G>A	ENST00000397902.2	-	6	821	c.408C>T	c.(406-408)caC>caT	p.H136H	ZNF846_ENST00000588267.1_Silent_p.H7H|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Silent_p.H7H	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	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.H136H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCTCCAATGTGAGTTATCA	0.378																																						uc002mmb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(406-408)CAC>CAT		zinc finger protein 846							129.0	119.0	122.0					19																	9869345		1820	4091	5911	SO:0001819	synonymous_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869345G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.408C>T	19.37:g.9869345G>A						ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Silent_p.H7H|ZNF846_uc002mmc.1_Silent_p.H7H	p.H136H	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	939	-			136			C2H2-type 1; degenerate.		A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	c.408C>T	CCDS42496.1																																																																																				PASS	0.378	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		44	100	44	100	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15989680	15989680	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:15989680G>A	ENST00000221700.6	-	13	1559	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R488R(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						GGACGCGGAAGCGCAGCAGCG	0.682																																						uc002nbs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1462-1464)CGC>CGT		cytochrome P450, family 4, subfamily F,							43.0	41.0	41.0					19																	15989680		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.chr19:15989680G>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.1464C>T	19.37:g.15989680G>A						CYP4F2_uc010xot.1_Silent_p.R339R	p.R488R	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1514	-			488						Silent	SNP	ENST00000221700.6	37	c.1464C>T	CCDS12336.1																																																																																				PASS	0.682	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		18	16	18	16	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16317171	16317171	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:16317171G>A	ENST00000291439.3	+	3	668	c.219G>A	c.(217-219)aaG>aaA	p.K73K	AP1M1_ENST00000429941.2_Silent_p.K73K|AP1M1_ENST00000444449.2_Silent_p.K73K|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.K73K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CATCCAAGAAGAACGCGTGCG	0.587																																						uc002ndu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(217-219)AAG>AAA		adaptor-related protein complex 1, mu 1 subunit							244.0	215.0	225.0					19																	16317171		2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16317171G>A		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.219G>A	19.37:g.16317171G>A						AP1M1_uc002ndv.2_Silent_p.K73K|AP1M1_uc010xpd.1_Silent_p.K73K	p.K73K	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			3	392	+			73					Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.219G>A	CCDS12342.1																																																																																				PASS	0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		45	138	45	138	---	---	---	---
ZNF506	440515	broad.mit.edu	37	19	19905475	19905475	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:19905475G>C	ENST00000540806.2	-	4	1309	c.1221C>G	c.(1219-1221)aaC>aaG	p.N407K	ZNF506_ENST00000443905.2_Missense_Mutation_p.N407K|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.N375K|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N407K(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CTGAGGACCAGTTAAAAGCTT	0.358																																						uc010eci.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)AAC>AAG		zinc finger protein 506 isoform 1							64.0	69.0	67.0					19																	19905475		2105	4247	6352	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905475G>C	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1221C>G	19.37:g.19905475G>C	ENSP00000440625:p.Asn407Lys					ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.N375K	p.N407K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			4	1369	-			407			C2H2-type 8.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1221C>G	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	0.129	-1.115621	0.01799	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.07327	3.2;3.2;3.2	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04137	0.0115	N	0.11651	0.15	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.002	T	0.46693	-0.9173	9	0.19147	T	0.46	.	7.4069	0.26995	0.0:0.0:1.0:0.0	.	407;375	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	K	407;407;375	ENSP00000393835:N407K;ENSP00000440625:N407K;ENSP00000408892:N375K	ENSP00000393835:N407K	N	-	3	2	ZNF506	19766475	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-3.429000	0.00474	0.430000	0.26230	0.430000	0.28490	AAC		PASS	0.358	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		9	57	9	57	---	---	---	---
POP4	10775	broad.mit.edu	37	19	30104871	30104871	+	Missense_Mutation	SNP	G	G	A	rs61731483	byFrequency	TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:30104871G>A	ENST00000585603.1	+	6	2820	c.518G>A	c.(517-519)cGc>cAc	p.R173H	POP4_ENST00000221770.3_Missense_Mutation_p.R49H|POP4_ENST00000392279.3_Missense_Mutation_p.R92H|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	173					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)	p.R173H(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AAAGAAGACCGCCTGAAAGGT	0.448																																					Melanoma(89;1165 1449 14085 34436 43672)	uc002nsf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)CGC>CAC		processing of precursor 4							79.0	73.0	75.0					19																	30104871		2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30104871G>A	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.518G>A	19.37:g.30104871G>A	ENSP00000465213:p.Arg173His					POP4_uc002nsg.2_Missense_Mutation_p.R92H	p.R173H	NM_006627	NP_006618	O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		6	574	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		173					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.518G>A	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377015	0.24857	.	.	ENSG00000105171	ENST00000221770;ENST00000392279	.	.	.	5.62	1.48	0.22813	Rof/RNase P-like (1);Ribonuclease P/MRP, subunit p29 (3);	0.394694	0.28214	N	0.016165	T	0.37210	0.0995	L	0.37630	1.12	0.33994	D	0.649496	B;B	0.17465	0.022;0.013	B;B	0.16722	0.005;0.016	T	0.35500	-0.9786	9	0.44086	T	0.13	-5.9765	6.2705	0.20951	0.6485:0.0:0.3515:0.0	.	92;173	A8MYC1;O95707	.;RPP29_HUMAN	H	173;92	.	ENSP00000221770:R173H	R	+	2	0	POP4	34796711	0.980000	0.34600	0.996000	0.52242	0.463000	0.32649	1.323000	0.33701	0.472000	0.27344	0.591000	0.81541	CGC		PASS	0.448	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		14	39	14	39	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30498384	30498384	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:30498384C>G	ENST00000542441.2	+	7	822	c.525C>G	c.(523-525)caC>caG	p.H175Q	URI1_ENST00000312051.6_Missense_Mutation_p.H135Q|URI1_ENST00000360605.4_Missense_Mutation_p.H157Q|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000392271.1_Missense_Mutation_p.H99Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	175					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.H175Q(1)									TAGCAAAACACCGAATTGCTC	0.368																																						uc002nsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(523-525)CAC>CAG		RPB5-mediating protein isoform a							48.0	46.0	46.0					19																	30498384		2203	4299	6502	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30498384C>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.525C>G	19.37:g.30498384C>G	ENSP00000442436:p.His175Gln					C19orf2_uc002nsq.2_Missense_Mutation_p.H157Q|C19orf2_uc002nss.2_Missense_Mutation_p.H135Q|C19orf2_uc002nst.2_Missense_Mutation_p.H99Q	p.H175Q	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	7	555	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	175					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.525C>G	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684991	0.29872	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.07444	3.19;3.19;3.19	5.6	2.19	0.27852	.	0.368488	0.33477	N	0.004879	T	0.05181	0.0138	N	0.21097	0.63	0.43885	D	0.996503	B;B;B	0.21821	0.061;0.036;0.028	B;B;B	0.16289	0.015;0.007;0.01	T	0.44360	-0.9333	10	0.27082	T	0.32	-1.9171	7.721	0.28731	0.3415:0.5759:0.0:0.0826	.	135;175;173	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Q	173;99;175;135	ENSP00000376097:H99Q;ENSP00000442436:H175Q;ENSP00000312530:H135Q	ENSP00000312530:H135Q	H	+	3	2	C19orf2	35190224	0.738000	0.28186	1.000000	0.80357	0.958000	0.62258	-0.126000	0.10563	0.190000	0.20209	0.655000	0.94253	CAC		PASS	0.368	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		6	39	6	39	---	---	---	---
CA11	770	broad.mit.edu	37	19	49143530	49143530	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:49143530C>T	ENST00000084798.4	-	4	972	c.293G>A	c.(292-294)gGa>gAa	p.G98E	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	98						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.G98E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GTACAAGGTTCCCCGGAGCTG	0.557																																						uc002pjz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GGA>GAA		carbonic anhydrase XI precursor							50.0	49.0	50.0					19																	49143530		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143530C>T	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.293G>A	19.37:g.49143530C>T	ENSP00000084798:p.Gly98Glu					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	p.G98E	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	855	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	98					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.293G>A	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488630	0.84854	.	.	ENSG00000063180	ENST00000084798	T	0.71698	-0.59	3.56	3.56	0.40772	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.209202	0.40385	N	0.001102	T	0.80491	0.4633	M	0.66506	2.035	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.81837	-0.0749	10	0.66056	D	0.02	.	10.8681	0.46866	0.0:1.0:0.0:0.0	.	98	O75493	CAH11_HUMAN	E	98	ENSP00000084798:G98E	ENSP00000084798:G98E	G	-	2	0	CA11	53835342	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	6.109000	0.71528	2.019000	0.59389	0.462000	0.41574	GGA		PASS	0.557	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		31	65	31	65	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49422337	49422337	+	Missense_Mutation	SNP	G	G	T	rs569947634		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:49422337G>T	ENST00000405315.4	+	9	1201	c.867G>T	c.(865-867)atG>atT	p.M289I	NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289I|NUCB1_ENST00000407032.1_Missense_Mutation_p.M289I|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	289	Binds to GNAI2 and GNAI3. {ECO:0000250}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.M289I(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGCGGGAGATGGAGGAGGAGC	0.612																																						uc002plb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)ATG>ATT		nucleobindin 1 precursor							57.0	59.0	58.0					19																	49422337		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422337G>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.867G>T	19.37:g.49422337G>T	ENSP00000385923:p.Met289Ile					NUCB1_uc002pla.2_Missense_Mutation_p.M289I|NUCB1_uc002plc.2_Missense_Mutation_p.M289I|NUCB1_uc002pld.2_5'UTR	p.M289I	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	9	939	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	289			Binds to GNAI2 and GNAI3 (By similarity).		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.867G>T	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.350020|5.350020	0.95830|0.95830	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273|ENST00000424608	D;D;D|.	0.83335|.	-1.71;-1.71;-1.71|.	5.01|5.01	5.01|5.01	0.66863|0.66863	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70343|0.70343	0.3213|0.3213	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D|.	0.60575|.	0.988;0.988|.	D;D|.	0.75020|.	0.985;0.985|.	T|T	0.68454|0.68454	-0.5404|-0.5404	10|5	0.37606|.	T|.	0.19|.	.|.	16.1855|16.1855	0.81948|0.81948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	289;289|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	I|L	289|259	ENSP00000385923:M289I;ENSP00000385211:M289I;ENSP00000263273:M289I|.	ENSP00000263273:M289I|.	M|W	+|+	3|2	0|0	NUCB1|NUCB1	54114149|54114149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.148000|9.148000	0.94652|0.94652	2.514000|2.514000	0.84764|0.84764	0.591000|0.591000	0.81541|0.81541	ATG|TGG		PASS	0.612	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		9	35	9	35	---	---	---	---
PTOV1	53635	broad.mit.edu	37	19	50358105	50358105	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:50358105C>T	ENST00000601675.1	+	4	514	c.410C>T	c.(409-411)cCg>cTg	p.P137L	PTOV1_ENST00000601638.1_Missense_Mutation_p.P105L|PTOV1_ENST00000599732.1_Missense_Mutation_p.P137L|AC018766.5_ENST00000593654.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.P105L|PTOV1_ENST00000391842.1_Missense_Mutation_p.P137L|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Missense_Mutation_p.P105L|MIR4749_ENST00000578197.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P137L(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GACCAGTGGCCGCAGAAGCTG	0.672																																						uc002pqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)CCG>CTG		prostate tumor overexpressed 1							43.0	45.0	44.0					19																	50358105		2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50358105C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.410C>T	19.37:g.50358105C>T	ENSP00000472816:p.Pro137Leu					PTOV1_uc010ybf.1_Missense_Mutation_p.P105L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.P105L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.P137L	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	4	580	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	137					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.410C>T	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491617	0.84962	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.64	3.64	0.41730	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.345964	0.25561	N	0.029840	T	0.77287	0.4108	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.91635	0.999;0.59;0.995	T	0.80596	-0.1312	9	0.87932	D	0	-31.8834	13.6288	0.62183	0.0:1.0:0.0:0.0	.	105;137;105	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	L	105;137	.	ENSP00000221557:P105L	P	+	2	0	PTOV1	55049917	0.998000	0.40836	0.958000	0.39756	0.982000	0.71751	4.412000	0.59787	2.331000	0.79229	0.563000	0.77884	CCG		PASS	0.672	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		9	37	9	37	---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329905	51329905	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:51329905G>A	ENST00000598239.1	-	4	620	c.590C>T	c.(589-591)gCg>gTg	p.A197V	KLK15_ENST00000301421.2_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.A196V|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000416184.1_Intron|KLK1_ENST00000448701.2_5'Flank|KLK1_ENST00000301420.2_5'Flank	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	197	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A197V(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCTGCCCTCCGCGCCTGCACA	0.587																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(589-591)GCG>GTG		kallikrein-related peptidase 15 isoform 4							78.0	80.0	79.0					19																	51329905		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329905G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.590C>T	19.37:g.51329905G>A	ENSP00000469315:p.Ala197Val					KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.A196V|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	p.A197V	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	621	-		all_neural(266;0.057)	197			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.590C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.358675	0.01245	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.37	0.802	0.18686	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.376195	0.19154	N	0.121377	T	0.12475	0.0303	N	0.02357	-0.585	0.21473	N	0.999673	B;B	0.11235	0.002;0.004	B;B	0.11329	0.006;0.003	T	0.30475	-0.9977	9	0.17832	T	0.49	.	7.3158	0.26499	0.6703:0.0:0.3297:0.0	.	196;197	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	V	197	.	ENSP00000314783:A197V	A	-	2	0	KLK15	56021717	0.000000	0.05858	0.072000	0.20136	0.330000	0.28571	0.022000	0.13511	-0.024000	0.13941	0.455000	0.32223	GCG		PASS	0.587	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		33	82	33	82	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961567	51961567	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:51961567A>T	ENST00000321424.3	-	1	141	c.75T>A	c.(73-75)gaT>gaA	p.D25E	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D25E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D25E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	25					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.D25E(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAAGTAACCATCCCCATATT	0.617																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(73-75)GAT>GAA		sialic acid binding Ig-like lectin 8 precursor							110.0	103.0	105.0					19																	51961567		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961567A>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.75T>A	19.37:g.51961567A>T	ENSP00000321077:p.Asp25Glu					SIGLEC8_uc010yda.1_Missense_Mutation_p.D25E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.D25E	p.D25E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	142	-		all_neural(266;0.0199)	25			Extracellular (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.75T>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.137652	0.00335	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.60299	1.55;0.2;1.32	1.27	-2.53	0.06326	.	4.748220	0.00980	N	0.003361	T	0.24699	0.0599	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.25441	0.023;0.126;0.001	B;B;B	0.17433	0.004;0.018;0.002	T	0.08597	-1.0714	10	0.09338	T	0.73	.	0.2016	0.00146	0.2857:0.2788:0.2196:0.2159	.	25;25;25	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	25	ENSP00000389142:D25E;ENSP00000321077:D25E;ENSP00000339448:D25E	ENSP00000321077:D25E	D	-	3	2	SIGLEC8	56653379	0.127000	0.22367	0.000000	0.03702	0.007000	0.05969	0.610000	0.24253	-1.259000	0.02468	-0.680000	0.03767	GAT		PASS	0.617	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		24	105	24	105	---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					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.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					uc002pzu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1012-1014)ATC>ATT		zinc finger protein 83 isoform a							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_uc002pzv.3_Silent_p.I338I|ZNF83_uc010eps.2_Silent_p.I310I|ZNF83_uc010ept.2_Silent_p.I338I|ZNF83_uc010epu.2_Silent_p.I338I|ZNF83_uc010epv.2_Silent_p.I338I|ZNF83_uc010epw.2_Silent_p.I338I|ZNF83_uc010epx.2_Silent_p.I310I|ZNF83_uc010epy.2_Silent_p.I338I|ZNF83_uc010epz.2_Silent_p.I310I	p.I338I	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2258	-			338			C2H2-type 9.		A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				PASS	0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		5	201	5	201	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152335	58152335	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr19:58152335G>A	ENST00000347302.3	+	3	660	c.481G>A	c.(481-483)Gca>Aca	p.A161T	ZNF211_ENST00000544273.1_Missense_Mutation_p.A173T|ZNF211_ENST00000541801.1_Missense_Mutation_p.A152T|ZNF211_ENST00000391703.3_Missense_Mutation_p.A100T|ZNF211_ENST00000240731.4_Missense_Mutation_p.A174T|ZNF211_ENST00000299871.5_Missense_Mutation_p.A226T|ZNF211_ENST00000254182.7_Missense_Mutation_p.A152T|ZNF211_ENST00000420680.1_Missense_Mutation_p.A165T	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	161					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.A174T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTACAGAGGCACCTTTCAG	0.463																																						uc002qpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)GCA>ACA		zinc finger protein 211 isoform 2							105.0	92.0	97.0					19																	58152335		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152335G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.481G>A	19.37:g.58152335G>A	ENSP00000339562:p.Ala161Thr					ZNF211_uc010yhb.1_Missense_Mutation_p.A165T|ZNF211_uc002qpp.2_Missense_Mutation_p.A174T|ZNF211_uc002qpr.2_Missense_Mutation_p.A225T|ZNF211_uc002qps.2_Missense_Mutation_p.A226T|ZNF211_uc002qpt.2_Missense_Mutation_p.A173T|ZNF211_uc010yhc.1_Missense_Mutation_p.A173T|ZNF211_uc010yhd.1_Missense_Mutation_p.A100T|ZNF211_uc010yhe.1_Missense_Mutation_p.A152T	p.A161T	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	661	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	161					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.481G>A	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.829632|1.829632	0.32329|0.32329	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.14893|.	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47|.	2.97|2.97	-4.95|-4.95	0.03048|0.03048	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;P;P;B;B|.	0.46220|.	0.119;0.119;0.763;0.874;0.072;0.072|.	B;B;B;B;B;B|.	0.40477|.	0.035;0.025;0.229;0.33;0.015;0.015|.	T|T	0.29941|0.29941	-0.9995|-0.9995	9|5	0.72032|.	D|.	0.01|.	.|.	6.3299|6.3299	0.21264|0.21264	0.5906:0.1248:0.2846:0.0|0.5906:0.1248:0.2846:0.0	.|.	165;173;226;152;161;174|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	T|D	165;161;152;100;152;226;173;174|164	ENSP00000399193:A165T;ENSP00000339562:A161T;ENSP00000254182:A152T;ENSP00000375584:A100T;ENSP00000442601:A152T;ENSP00000299871:A226T;ENSP00000441386:A173T;ENSP00000240731:A174T|.	ENSP00000240731:A174T|.	A|G	+|+	1|2	0|0	ZNF211|ZNF211	62844147|62844147	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	0.287000|0.287000	0.18920|0.18920	-1.236000|-1.236000	0.02542|0.02542	-0.191000|-0.191000	0.12829|0.12829	GCA|GGC		PASS	0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			25	87	25	87	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016254	23016254	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:23016254C>T	ENST00000255008.3	+	1	198	c.134C>T	c.(133-135)gCg>gTg	p.A45V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	45					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.A45V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					gcgcgggcggcgggcATGGTC	0.706																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)GCG>GTG		somatostatin receptor 4							35.0	45.0	42.0					20																	23016254		2161	4263	6424	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016254C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.134C>T	20.37:g.23016254C>T	ENSP00000255008:p.Ala45Val						p.A45V	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	198	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		45			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.134C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747422	0.49257	.	.	ENSG00000132671	ENST00000255008	T	0.18338	2.22	3.57	0.435	0.16544	.	0.492039	0.15989	N	0.234938	T	0.09291	0.0229	L	0.27053	0.805	0.34542	D	0.710356	B	0.17038	0.02	B	0.08055	0.003	T	0.34625	-0.9821	10	0.15952	T	0.53	.	6.7277	0.23365	0.0:0.682:0.0:0.318	.	45	P31391	SSR4_HUMAN	V	45	ENSP00000255008:A45V	ENSP00000255008:A45V	A	+	2	0	SSTR4	22964254	0.000000	0.05858	0.008000	0.14137	0.339000	0.28857	0.281000	0.18810	-0.080000	0.12685	-0.266000	0.10368	GCG		PASS	0.706	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			7	21	7	21	---	---	---	---
BPIFB1	92747	broad.mit.edu	37	20	31876669	31876669	+	Missense_Mutation	SNP	G	G	A	rs374640604		TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:31876669G>A	ENST00000253354.1	+	3	399	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	80					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.V80I(1)									GGTGAACACCGTCCTGAAGCA	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19301	0.0		0.0	False		,,,				2504	0.0					uc002wyw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(238-240)GTC>ATC		LPLUNC1 protein precursor		G	ILE/VAL	0,4406		0,0,2203	67.0	50.0	56.0		238	-7.5	0.0	20		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB1	NM_033197.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	80/485	31876669	1,13005	2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31876669G>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.238G>A	20.37:g.31876669G>A	ENSP00000253354:p.Val80Ile					C20orf114_uc010gej.1_Missense_Mutation_p.V80I	p.V80I	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			3	399	+			80					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.238G>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.941976	0.02322	0.0	1.16E-4	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06933	3.24;3.24	5.34	-7.51	0.01346	.	0.808315	0.11241	N	0.584655	T	0.01222	0.0040	N	0.00621	-1.32	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.35943	-0.9768	10	0.02654	T	1	-14.9604	1.6018	0.02675	0.4447:0.1029:0.2463:0.2061	.	80;80	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	I	80	ENSP00000390471:V80I;ENSP00000253354:V80I	ENSP00000253354:V80I	V	+	1	0	BPIFB1	31340330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-1.112000	0.02984	-1.731000	0.00696	GTC		PASS	0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		11	32	11	32	---	---	---	---
BPIFB1	92747	broad.mit.edu	37	20	31894731	31894731	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:31894731G>T	ENST00000253354.1	+	15	1494	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	445					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.G445W(1)									ATTAAGATCTGGGGTCCCAGT	0.572																																						uc002wyw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(1333-1335)GGG>TGG		LPLUNC1 protein precursor							153.0	135.0	141.0					20																	31894731		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31894731G>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.1333G>T	20.37:g.31894731G>T	ENSP00000253354:p.Gly445Trp					C20orf114_uc002wyx.1_RNA	p.G445W	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			15	1494	+			445					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1333G>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703931	0.48412	.	.	ENSG00000125999	ENST00000253354	T	0.58060	0.36	4.63	3.68	0.42216	.	0.000000	0.52532	D	0.000067	T	0.65616	0.2708	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55661	-0.8106	10	0.87932	D	0	-25.6187	8.3776	0.32453	0.1065:0.0:0.8935:0.0	.	445	Q8TDL5	BPIB1_HUMAN	W	445	ENSP00000253354:G445W	ENSP00000253354:G445W	G	+	1	0	BPIFB1	31358392	0.965000	0.33210	0.043000	0.18650	0.238000	0.25445	4.009000	0.57110	1.310000	0.45006	0.561000	0.74099	GGG		PASS	0.572	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		18	115	18	115	---	---	---	---
DSN1	79980	broad.mit.edu	37	20	35381248	35381248	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:35381248C>A	ENST00000426836.1	-	11	1386	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	DSN1_ENST00000373740.3_Missense_Mutation_p.K266N|DSN1_ENST00000448110.2_Missense_Mutation_p.K322N|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.K338N|DSN1_ENST00000373734.4_Missense_Mutation_p.K231N|DSN1_ENST00000373745.3_Missense_Mutation_p.K338N	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	338					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.K338N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GTAGCTGAAGCTTCAACAGTT	0.428																																						uc010gfr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1012-1014)AAG>AAT		DSN1, MIND kinetochore complex component,							201.0	168.0	179.0					20																	35381248		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35381248C>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.1014G>T	20.37:g.35381248C>A	ENSP00000389810:p.Lys338Asn					DSN1_uc002xfz.2_Missense_Mutation_p.K338N|DSN1_uc002xfy.3_Missense_Mutation_p.K128N|DSN1_uc002xga.2_Missense_Mutation_p.K338N|DSN1_uc010zvs.1_Missense_Mutation_p.K231N|DSN1_uc002xgc.2_Missense_Mutation_p.K322N|DSN1_uc002xgb.2_Missense_Mutation_p.K322N	p.K338N	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			11	1387	-		Myeloproliferative disorder(115;0.00874)	338					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.1014G>T	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727508	0.30593	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734	.	.	.	5.86	-3.3	0.05003	.	0.363928	0.29133	N	0.013053	T	0.23249	0.0562	N	0.17082	0.46	0.31747	N	0.635104	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.02588	-1.1137	9	0.49607	T	0.09	-8.1363	4.8169	0.13371	0.2286:0.408:0.0:0.3634	.	231;338	Q5JW55;Q9H410	.;DSN1_HUMAN	N	338;338;322;271;338;266;231	.	ENSP00000362838:K271N	K	-	3	2	DSN1	34814662	0.947000	0.32204	0.967000	0.41034	0.352000	0.29268	-0.012000	0.12699	-0.228000	0.09869	0.655000	0.94253	AAG		PASS	0.428	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		20	87	20	87	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37634944	37634944	+	Silent	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:37634944G>A	ENST00000252011.3	+	12	1200	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q	DHX35_ENST00000373325.2_Silent_p.Q389Q|DHX35_ENST00000373323.4_Silent_p.Q358Q	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	389	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Q389Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CAGCTAATCAGCGAGCAGGAC	0.493																																						uc002xjh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(1165-1167)CAG>CAA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							207.0	199.0	202.0					20																	37634944		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634944G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1167G>A	20.37:g.37634944G>A						DHX35_uc010zwa.1_Silent_p.Q234Q|DHX35_uc010zwb.1_Silent_p.Q234Q|DHX35_uc010zwc.1_Silent_p.Q358Q	p.Q389Q	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			12	1178	+		Myeloproliferative disorder(115;0.00878)	389			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1167G>A	CCDS13310.1																																																																																				PASS	0.493	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		146	84	146	84	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47682981	47682981	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:47682981G>A	ENST00000262982.2	+	5	533	c.410G>A	c.(409-411)cGc>cAc	p.R137H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R137H|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	137					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.R137H(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGGTGAATCGCTTTCAGAGT	0.353																																						uc002xty.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(409-411)CGC>CAC		CSE1 chromosome segregation 1-like protein							123.0	118.0	120.0					20																	47682981		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47682981G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.410G>A	20.37:g.47682981G>A	ENSP00000262982:p.Arg137His					CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.R137H	p.R137H	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		5	544	+			137					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.410G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694624	0.68386	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.67171	-0.25;-0.25	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.35542	1.07	0.80722	D	1	B;B	0.19817	0.039;0.01	B;B	0.18263	0.021;0.007	T	0.52290	-0.8595	10	0.16896	T	0.51	-6.9163	19.5362	0.95254	0.0:0.0:1.0:0.0	.	137;137	F8W904;P55060	.;XPO2_HUMAN	H	137	ENSP00000262982:R137H;ENSP00000379495:R137H	ENSP00000262982:R137H	R	+	2	0	CSE1L	47116388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.607000	0.88179	0.557000	0.71058	CGC		PASS	0.353	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		91	43	91	43	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60969244	60969244	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr20:60969244A>G	ENST00000279101.5	-	5	691	c.683T>C	c.(682-684)cTa>cCa	p.L228P		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	228					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.L228P(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CACACCTTCTAGCTCAAAGAC	0.632																																						uc002ycv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(682-684)CTA>CCA		Cdk5 and Abl enzyme substrate 2							102.0	93.0	96.0					20																	60969244		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60969244A>G	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.683T>C	20.37:g.60969244A>G	ENSP00000279101:p.Leu228Pro						p.L228P	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	690	-	Breast(26;2.05e-08)		228					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.683T>C	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620842	0.66787	.	.	ENSG00000149679	ENST00000279101	T	0.59364	0.27	5.33	5.33	0.75918	.	0.123638	0.53938	D	0.000050	T	0.72875	0.3515	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.75725	-0.3217	10	0.66056	D	0.02	-22.1337	15.5859	0.76482	1.0:0.0:0.0:0.0	.	228	Q9BTV7	CABL2_HUMAN	P	228	ENSP00000279101:L228P	ENSP00000279101:L228P	L	-	2	0	CABLES2	60402639	1.000000	0.71417	0.970000	0.41538	0.413000	0.31143	8.776000	0.91776	2.144000	0.66660	0.454000	0.30748	CTA		PASS	0.632	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		15	123	15	123	---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28213384	28213384	+	Silent	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr21:28213384C>A	ENST00000284984.3	-	4	1765	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	437	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L437L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGCTGTGGTCCAGGTTGGAAA	0.483																																						uc002ymf.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1309-1311)CTG>CTT		ADAM metallopeptidase with thrombospondin type 1							216.0	163.0	181.0					21																	28213384		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28213384C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1311G>T	21.37:g.28213384C>A							p.L437L	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	4	1766	-		Breast(209;0.000962)	437			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.1311G>T	CCDS33524.1																																																																																				PASS	0.483	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			4	113	4	113	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40582738	40582738	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr21:40582738G>T	ENST00000333229.2	-	35	4345	c.4018C>A	c.(4018-4020)Caa>Aaa	p.Q1340K	BRWD1_ENST00000380800.3_Missense_Mutation_p.Q1340K|BRWD1_ENST00000342449.3_Missense_Mutation_p.Q1340K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1340	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q1340K(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCAACAGGTTGTCTAAATGGT	0.363																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(4018-4020)CAA>AAA		bromodomain and WD repeat domain containing 1							119.0	110.0	113.0					21																	40582738		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582738G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4018C>A	21.37:g.40582738G>T	ENSP00000330753:p.Gln1340Lys					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.Q1340K|BRWD1_uc010god.1_Intron	p.Q1340K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			35	4157	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1340			Bromo 2.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4018C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067601	0.55539	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.28454	1.61;1.61;1.61	5.34	5.34	0.76211	Bromodomain (6);Bromodomain, conserved site (1);	0.193210	0.35646	N	0.003064	T	0.20780	0.0500	N	0.20685	0.6	0.80722	D	1	P;P	0.38642	0.504;0.641	B;B	0.33295	0.161;0.15	T	0.05566	-1.0877	10	0.66056	D	0.02	-6.3618	14.9586	0.71138	0.0:0.1424:0.8576:0.0	.	1340;1340	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1340	ENSP00000330753:Q1340K;ENSP00000344333:Q1340K;ENSP00000370178:Q1340K	ENSP00000330753:Q1340K	Q	-	1	0	BRWD1	39504608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.714000	0.61902	2.652000	0.90054	0.573000	0.79308	CAA		PASS	0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		3	48	3	48	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47965852	47965852	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr21:47965852G>T	ENST00000417564.2	+	20	2393	c.2372G>T	c.(2371-2373)gGc>gTc	p.G791V	DIP2A_ENST00000457905.3_Missense_Mutation_p.G791V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G787V|DIP2A_ENST00000427143.2_Missense_Mutation_p.G727V|DIP2A_ENST00000435722.3_Missense_Mutation_p.G791V|DIP2A_ENST00000466639.1_Missense_Mutation_p.G748V|DIP2A_ENST00000318711.7_Missense_Mutation_p.G792V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	791					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G792V(1)|p.G727V(1)|p.G791V(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCAGGACAGGCCTGCTGGGC	0.602																																						uc002zjo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2371-2373)GGC>GTC		disco-interacting protein 2A isoform a							94.0	102.0	99.0					21																	47965852		2101	4217	6318	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47965852G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2372G>T	21.37:g.47965852G>T	ENSP00000392066:p.Gly791Val					DIP2A_uc011afy.1_Missense_Mutation_p.G727V|DIP2A_uc011afz.1_Missense_Mutation_p.G787V|DIP2A_uc002zjl.2_Missense_Mutation_p.G791V|DIP2A_uc002zjm.2_Missense_Mutation_p.G791V|DIP2A_uc010gql.2_Missense_Mutation_p.G748V|DIP2A_uc002zjn.2_Missense_Mutation_p.G791V|DIP2A_uc002zjq.2_Missense_Mutation_p.G183V	p.G791V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	20	2555	+	Breast(49;0.0933)		791					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2372G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148956	0.57151	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	4.84	4.84	0.62591	AMP-dependent synthetase/ligase (1);	0.156720	0.45867	D	0.000337	T	0.68384	0.2995	M	0.92507	3.315	0.39214	D	0.963377	D;D;D;D;D;D;D	0.89917	0.997;0.998;0.997;0.997;0.994;0.999;1.0	D;D;D;D;D;D;D	0.81914	0.981;0.977;0.929;0.994;0.994;0.99;0.995	T	0.79298	-0.1861	10	0.87932	D	0	-24.5626	15.4515	0.75277	0.0:0.0:1.0:0.0	.	792;727;748;727;791;791;791	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	V	787;727;792;748;791;748;791;791	ENSP00000383133:G787V;ENSP00000400528:G727V;ENSP00000323633:G792V;ENSP00000393434:G791V;ENSP00000430249:G748V;ENSP00000415089:G791V;ENSP00000392066:G791V	ENSP00000323633:G792V	G	+	2	0	DIP2A	46790280	0.983000	0.35010	0.743000	0.31040	0.756000	0.42949	2.983000	0.49345	2.219000	0.72066	0.591000	0.81541	GGC		PASS	0.602	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	79	4	79	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47970521	47970521	+	Silent	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr21:47970521C>T	ENST00000417564.2	+	23	2724	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P	DIP2A_ENST00000400274.1_Silent_p.P897P|DIP2A_ENST00000427143.2_Silent_p.P837P|DIP2A_ENST00000318711.7_Silent_p.P902P			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	901					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P902P(1)|p.P837P(1)|p.P901P(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACACCTTGCCCAAGGCTCCTC	0.577																																						uc002zjo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2701-2703)CCC>CCT		disco-interacting protein 2A isoform a							68.0	69.0	69.0					21																	47970521		2020	4183	6203	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47970521C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2703C>T	21.37:g.47970521C>T						DIP2A_uc011afy.1_Silent_p.P837P|DIP2A_uc011afz.1_Silent_p.P897P	p.P901P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	23	2886	+	Breast(49;0.0933)		901					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2703C>T	CCDS46655.1																																																																																				PASS	0.577	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		8	15	8	15	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36710337	36710337	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr22:36710337G>C	ENST00000216181.5	-	13	1637	c.1407C>G	c.(1405-1407)atC>atG	p.I469M	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	469	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.I469M(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGTGTAATTGATGCACAGCT	0.527			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1405-1407)ATC>ATG		myosin, heavy polypeptide 9, non-muscle							156.0	123.0	134.0					22																	36710337		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36710337G>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1407C>G	22.37:g.36710337G>C	ENSP00000216181:p.Ile469Met					MYH9_uc003aph.1_Missense_Mutation_p.I333M	p.I469M	NM_002473	NP_002464	P35579	MYH9_HUMAN			13	1638	-			469			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1407C>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379019	0.82682	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.91996	-2.95	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.159139	0.53938	D	0.000044	D	0.96460	0.8845	H	0.98849	4.35	0.80722	D	1	P	0.46578	0.88	P	0.49047	0.599	D	0.97437	1.0019	10	0.87932	D	0	.	12.8944	0.58091	0.0796:0.0:0.9204:0.0	.	469	P35579	MYH9_HUMAN	M	333;469	ENSP00000216181:I469M	ENSP00000216181:I469M	I	-	3	3	MYH9	35040283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.287000	0.51732	2.524000	0.85096	0.558000	0.71614	ATC		PASS	0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		13	26	13	26	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121714	38121714	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr22:38121714C>T	ENST00000406386.3	+	7	3406	c.3151C>T	c.(3151-3153)Ccg>Tcg	p.P1051S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1051					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.P1051S(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)					TGAGAGTGAACCGCCCCACCA	0.667																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3151-3153)CCG>TCG		TRIO and F-actin binding protein isoform 6							57.0	67.0	64.0					22																	38121714		1901	4095	5996	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.chr22:38121714C>T	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.3151C>T	22.37:g.38121714C>T	ENSP00000384312:p.Pro1051Ser					TRIOBP_uc003atu.2_Missense_Mutation_p.P879S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1051S|TRIOBP_uc003ats.1_Missense_Mutation_p.P879S	p.P1051S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3422	+	Melanoma(58;0.0574)		1051					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3151C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.271031	0.01421	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.15952	2.38	4.85	0.285	0.15705	.	.	.	.	.	T	0.04227	0.0117	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43130	-0.9410	9	0.06757	T	0.87	.	7.4429	0.27194	0.0:0.4282:0.0:0.5718	.	1051	Q9H2D6	TARA_HUMAN	S	1051	ENSP00000384312:P1051S	ENSP00000384312:P1051S	P	+	1	0	TRIOBP	36451660	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.561000	0.05957	-0.175000	0.10725	-0.641000	0.03968	CCG		PASS	0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			19	120	19	120	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45802340	45802340	+	Splice_Site	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chr22:45802340C>A	ENST00000357450.4	-	4	615		c.e4+1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.?(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGACATCTTACCTCTTCCTTC	0.343																																						uc003bgc.2																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e4+1		SMC1 structural maintenance of chromosomes							77.0	72.0	74.0					22																	45802340		1831	4085	5916	SO:0001630	splice_region_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802340C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.615+1G>T	22.37:g.45802340C>A						SMC1B_uc003bgd.2_Splice_Site_p.E205_splice|SMC1B_uc003bge.1_Splice_Site	p.E205_splice	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	4	667	-		Ovarian(80;0.00965)|all_neural(38;0.0416)						A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Splice_Site	SNP	ENST00000357450.4	37	c.615_splice	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385735	0.82792	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMC1B	44181004	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.369000	0.79578	2.716000	0.92895	0.561000	0.74099	.		PASS	0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	Intron	5	44	5	44	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821715	5821715	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:5821715G>A	ENST00000381095.3	-	5	1631	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	NLGN4X_ENST00000381093.2_Missense_Mutation_p.T355I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T335I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T335I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T335I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	335					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.T335I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TATGTGGTAGGTGGCCGGGGT	0.582																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1003-1005)ACC>ATC		X-linked neuroligin 4 precursor							185.0	127.0	147.0					X																	5821715		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821715G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1004C>T	X.37:g.5821715G>A	ENSP00000370485:p.Thr335Ile					NLGN4X_uc004crp.2_Missense_Mutation_p.T355I|NLGN4X_uc004crq.2_Missense_Mutation_p.T335I|NLGN4X_uc010ndi.2_Missense_Mutation_p.T372I|NLGN4X_uc004crr.2_Missense_Mutation_p.T335I|NLGN4X_uc010ndj.2_Missense_Mutation_p.T335I	p.T335I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1505	-			335			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1004C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	5.875	0.345604	0.11126	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.53786	0.1818	N	0.13327	0.33	0.34690	D	0.725669	P;B;B	0.42039	0.769;0.431;0.005	P;B;B	0.44422	0.449;0.227;0.012	T	0.62402	-0.6862	8	.	.	.	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	392;335;355	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	I	335;355;335;335;335	ENSP00000370485:T335I;ENSP00000370483:T355I;ENSP00000275857:T335I;ENSP00000370482:T335I;ENSP00000439203:T335I	.	T	-	2	0	NLGN4X	5831715	0.988000	0.35896	0.693000	0.30195	0.244000	0.25665	2.039000	0.41193	1.579000	0.49836	0.600000	0.82982	ACC		PASS	0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		20	59	20	59	---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17819468	17819468	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:17819468C>A	ENST00000545871.1	-	3	1123	c.663G>T	c.(661-663)ttG>ttT	p.L221F	RAI2_ENST00000360011.1_Missense_Mutation_p.L221F|RAI2_ENST00000331511.1_Missense_Mutation_p.L221F|RAI2_ENST00000415486.3_Missense_Mutation_p.L171F|RAI2_ENST00000451717.1_Missense_Mutation_p.L221F	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	221	Pro-rich.				embryo development (GO:0009790)			p.L221F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGGGGGGACAAGGGGGAGC	0.627																																						uc004cyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(661-663)TTG>TTT		retinoic acid induced 2							27.0	28.0	28.0					X																	17819468		2202	4297	6499	SO:0001583	missense	10742				embryo development			g.chrX:17819468C>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.663G>T	X.37:g.17819468C>A	ENSP00000444210:p.Leu221Phe					RAI2_uc004cyg.2_Missense_Mutation_p.L221F|RAI2_uc010nfa.2_Missense_Mutation_p.L221F|RAI2_uc004cyh.3_Missense_Mutation_p.L221F|RAI2_uc011miy.1_Missense_Mutation_p.L171F	p.L221F	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1233	-	Hepatocellular(33;0.183)		221			Pro-rich.		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.663G>T	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	c	8.003	0.755798	0.15846	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.73	5.34	4.46	0.54185	.	0.000000	0.64402	D	0.000018	T	0.63686	0.2532	L	0.59436	1.845	0.49582	D	0.999806	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64685	-0.6349	10	0.56958	D	0.05	-12.9651	6.6113	0.22753	0.0:0.6857:0.1502:0.164	.	171;221	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	F	221;221;221;221;171	ENSP00000333456:L221F;ENSP00000353106:L221F;ENSP00000444210:L221F;ENSP00000401323:L221F;ENSP00000392578:L171F	ENSP00000333456:L221F	L	-	3	2	RAI2	17729389	0.981000	0.34729	0.793000	0.32043	0.372000	0.29890	0.217000	0.17603	2.468000	0.83385	0.597000	0.82753	TTG		PASS	0.627	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		8	21	8	21	---	---	---	---
GK	2710	broad.mit.edu	37	X	30695509	30695509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:30695509C>T	ENST00000378941.3	+	4	277	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	GK_ENST00000378946.3_Nonsense_Mutation_p.Q93*|GK_ENST00000378943.3_Nonsense_Mutation_p.Q93*|GK_ENST00000378945.3_Nonsense_Mutation_p.Q93*|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	93					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.Q93*(1)		central_nervous_system(1)|large_intestine(3)	4						TGTCAGCAACCAGAGGGAAAC	0.413																																						uc004dch.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(277-279)CAG>TAG		glycerol kinase isoform a							128.0	102.0	110.0					X																	30695509		2202	4300	6502	SO:0001587	stop_gained	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30695509C>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.277C>T	X.37:g.30695509C>T	ENSP00000368224:p.Gln93*					GK_uc010ngj.2_Nonsense_Mutation_p.Q93*|GK_uc004dci.3_Nonsense_Mutation_p.Q93*|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR	p.Q93*	NM_203391	NP_976325	P32189	GLPK_HUMAN			4	456	+			93					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonsense_Mutation	SNP	ENST00000378941.3	37	c.277C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.670747	0.96754	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8497	0.88742	0.0:1.0:0.0:0.0	.	.	.	.	X	93	.	ENSP00000368224:Q93X	Q	+	1	0	GK	30605430	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.919000	0.75793	2.489000	0.83994	0.594000	0.82650	CAG		PASS	0.413	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167		52	20	52	20	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50052552	50052552	+	Silent	SNP	A	A	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:50052552A>T	ENST00000376042.1	+	6	1681	c.1383A>T	c.(1381-1383)ccA>ccT	p.P461P	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.P461P			Q8WWL7	CCNB3_HUMAN	cyclin B3	461					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.P461P(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAAAGTCTCCAACTGAGGAGT	0.473																																						uc004dox.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(1381-1383)CCA>CCT		cyclin B3 isoform 3							47.0	45.0	45.0					X																	50052552		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052552A>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1383A>T	X.37:g.50052552A>T						CCNB3_uc004doy.2_Silent_p.P461P|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.P461P	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1681	+	Ovarian(276;0.236)		461					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.1383A>T	CCDS14331.1																																																																																				PASS	0.473	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			11	41	11	41	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73812015	73812015	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:73812015C>A	ENST00000332687.6	-	4	1353	c.1135G>T	c.(1135-1137)Gtc>Ttc	p.V379F	RLIM_ENST00000349225.2_Missense_Mutation_p.V379F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	379					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.V379F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTACTGACATAGGTTCTC	0.428																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GTC>TTC		ring finger protein, LIM domain interacting							116.0	104.0	108.0					X																	73812015		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:73812015C>A	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.1135G>T	X.37:g.73812015C>A	ENSP00000328059:p.Val379Phe					RLIM_uc004ebw.2_Missense_Mutation_p.V379F	p.V379F	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1425	-			379					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1135G>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387476	0.42308	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.13089	2.62;2.62	5.73	5.73	0.89815	.	0.058441	0.64402	D	0.000002	T	0.40067	0.1102	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.27971	-1.0058	10	0.87932	D	0	-0.6124	18.882	0.92358	0.0:1.0:0.0:0.0	.	379	Q9NVW2	RNF12_HUMAN	F	379	ENSP00000328059:V379F;ENSP00000253571:V379F	ENSP00000328059:V379F	V	-	1	0	RLIM	73728740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	2.406000	0.81754	0.600000	0.82982	GTC		PASS	0.428	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		14	22	14	22	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685917	125685917	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4582-01A-01D-1441-08	TCGA-33-4582-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4cb06585-62f9-4aae-969a-2085b4d514c3	3f6485cb-b18f-452c-8516-da639240544c	g.chrX:125685917G>T	ENST00000371126.1	-	1	917	c.675C>A	c.(673-675)gaC>gaA	p.D225E		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	225								p.D225E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATCGAACTTGTCCGGGTCCA	0.642																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(673-675)GAC>GAA		DDB1 and CUL4 associated factor 12-like 1							35.0	36.0	36.0					X																	125685917		2202	4297	6499	SO:0001583	missense	139170							g.chrX:125685917G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.675C>A	X.37:g.125685917G>T	ENSP00000360167:p.Asp225Glu						p.D225E	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	926	-			225			WD 2.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.675C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653346	0.29425	.	.	ENSG00000198889	ENST00000371126	T	0.63255	-0.03	4.13	-0.835	0.10775	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38217	N	0.001769	T	0.51991	0.1707	L	0.49640	1.575	0.09310	N	1	D	0.56521	0.976	P	0.51833	0.681	T	0.48080	-0.9066	10	0.17369	T	0.5	.	1.0158	0.01507	0.3953:0.152:0.2957:0.157	.	225	Q5VU92	DC121_HUMAN	E	225	ENSP00000360167:D225E	ENSP00000360167:D225E	D	-	3	2	DCAF12L1	125513598	0.915000	0.31059	0.000000	0.03702	0.183000	0.23260	-0.098000	0.11024	-0.333000	0.08476	0.429000	0.28392	GAC		PASS	0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		13	9	13	9	---	---	---	---
